PLEKHA1 pleckstrin homology domain containing A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLEKHA1provided by HGNC
Official Full Name: pleckstrin homology domain containing A1provided by HGNC
Primary source: HGNC:HGNC:14335
See related: Ensembl:ENSG00000107679 MIM:607772; AllianceGenome:HGNC:14335
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TAPP1
Summary: This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
Expression: Ubiquitous expression in skin (RPKM 23.3), lung (RPKM 17.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.13

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (122374708..122442600)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (123270978..123338841)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (124134224..124202116)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

investigated the association of PLEKHA1 958A/G, polymorphisms with Age-Related Macular Degeneration (AMD) risk. PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019; allele model: aOR=0.883, 95% CI=0.736-0.992, P=0.014)
Title: Polymorphisms in Selected Genes and Their Association with Age-Related Macular Degeneration in a Chinese Population.
Studies indicate that the high-risk allele of the 10q26 locus encompasses three genes, PLEKHA1, ARMS2, and HTRA1 with high linkage disequilibrium.
Title: Gene Structure of the 10q26 Locus: A Clue to Cracking the ARMS2/HTRA1 Riddle?
CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with age-related macular degeneration in an Indian population.
Title: Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF genes as risk factors for age-related macular degeneration in Indian patients.
This study provides evidence of the joint contribution of genetic variants in PLEKHA1/ARMS2/HTRA1 to age-related macular degeneration risk.
Title: Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis.
Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
Title: Integrative predictive model of coronary artery calcification in atherosclerosis.
Independent of CFH genotype or smoking history, an individual's risk of AMD (age-related macular degeneration) could be increased or decreased, depending on their genotype or haplotype in the 10q26 region.
Title: Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
Title: Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.
Observational study of gene-disease association. (HuGE Navigator)
Title: A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-R62957 (e-PCR)
- UniSTS:26880

GDB:434012 (e-PCR)
- UniSTS:157204

D10S275 (e-PCR)
- UniSTS:147992

U75684 (e-PCR)
- UniSTS:51504

RH66233 (e-PCR)
- UniSTS:27195

WI-17828 (e-PCR)
- UniSTS:35714

SHGC-142449 (e-PCR)
- UniSTS:171462

RH79571 (e-PCR)
- UniSTS:87244

RH44535 (e-PCR)
- UniSTS:13819

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables PDZ domain binding	IBA Inferred from Biological aspect of Ancestor more info
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in Leydig cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in androgen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in face morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in luteinization	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet-derived growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in roof of mouth development	IEA Inferred from Electronic Annotation more info
involved_in ruffle organization	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pleckstrin homology domain-containing family A member 1

Names: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1; tandem PH domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027823.2 RefSeqGene

Range

5002..62639

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001001974.4 → NP_001001974.1 pleckstrin homology domain-containing family A member 1 isoform 1

See identical proteins and their annotated locations for NP_001001974.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 5-9 all encode the same isoform (1).

Source sequence(s)

AL133603, BC001136, BC042458

Consensus CDS

CCDS7629.1

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21

UniProtKB/TrEMBL

B2RBH1

Related

ENSP00000357986.3, ENST00000368990.8

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001195608.2 → NP_001182537.1 pleckstrin homology domain-containing family A member 1 isoform 2

See identical proteins and their annotated locations for NP_001182537.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) is shorter at the 5' UTR and includes an alternate exon, which results in a frameshift, compared to variant 1. The resulting isoform (2) has a distinct C-terminus, compared to isoform 1. Variants 3, 10, and 11 all encode the same isoform (2).

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS55730.1

UniProtKB/Swiss-Prot

Q9HB21

UniProtKB/TrEMBL

B3KQL5

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001330178.2 → NP_001317107.1 pleckstrin homology domain-containing family A member 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate exon in the 3' coding region, which results in a frameshift compared to variant 1. The resulting isoform (3) is shorter than and has a distinct C-terminus compared to isoform 1. Variants 4 and 12-16 all encode the same isoform (3).

Source sequence(s)

AK075159, BC042458, BG248876, BX842242, CN310745, CN310748, DN989473, R26739

Consensus CDS

CCDS81517.1

UniProtKB/TrEMBL

Q5RGS4

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377230.1 → NP_001364159.1 pleckstrin homology domain-containing family A member 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variants 1, 2, and 6-9, encodes isoform 1.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS7629.1

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377231.1 → NP_001364160.1 pleckstrin homology domain-containing family A member 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variants 1, 2, 5, and 7-9, encodes isoform 1.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS7629.1

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377232.1 → NP_001364161.1 pleckstrin homology domain-containing family A member 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variants 1, 2, 5, 6, 8, and 9, encodes isoform 1.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS7629.1

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377234.1 → NP_001364163.1 pleckstrin homology domain-containing family A member 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (8), as well as variants 1, 2, 5-7, and 9, encodes isoform 1.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS7629.1

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377235.1 → NP_001364164.1 pleckstrin homology domain-containing family A member 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (9), as well as variants 1, 2, and 5-8, encodes isoform 1.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS7629.1

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377237.1 → NP_001364166.1 pleckstrin homology domain-containing family A member 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variants 3 and 11, encodes isoform 2.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS55730.1

Related

ENSP00000357984.2, ENST00000368988.5

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377238.1 → NP_001364167.1 pleckstrin homology domain-containing family A member 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (11), as well as variants 3 and 10, encodes isoform 2.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS55730.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377240.1 → NP_001364169.1 pleckstrin homology domain-containing family A member 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (12), as well as variants 4 and 13-16, encodes isoform 3.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS81517.1

UniProtKB/TrEMBL

Q5RGS4

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377241.1 → NP_001364170.1 pleckstrin homology domain-containing family A member 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (13), as well as variants 4, 12, and 14-16, encodes isoform 3.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS81517.1

UniProtKB/TrEMBL

Q5RGS4

Related

ENSP00000357985.1, ENST00000368989.6

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377242.1 → NP_001364171.1 pleckstrin homology domain-containing family A member 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (14), as well as variants 4, 12, 13, 15, and 16, encodes isoform 3.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS81517.1

UniProtKB/TrEMBL

Q5RGS4

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377243.1 → NP_001364172.1 pleckstrin homology domain-containing family A member 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (15), as well as variants 4, 12-14, and 16, encodes isoform 3.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS81517.1

UniProtKB/TrEMBL

Q5RGS4

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377244.1 → NP_001364173.1 pleckstrin homology domain-containing family A member 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (16), as well as variants 4 and 12-15, encodes isoform 3.

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS81517.1

UniProtKB/TrEMBL

Q5RGS4

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377245.1 → NP_001364174.1 pleckstrin homology domain-containing family A member 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (17), as well as variant 18, encodes isoform 4.

Source sequence(s)

BX664700, BX842242

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377246.1 → NP_001364175.1 pleckstrin homology domain-containing family A member 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (18), as well as variant 17, encodes isoform 4.

Source sequence(s)

BX664700, BX842242

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377247.1 → NP_001364176.1 pleckstrin homology domain-containing family A member 1 isoform 5

Status: REVIEWED

Source sequence(s)

BX664700, BX842242

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13271
Location:174 → 287

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 110

PH-like; Pleckstrin homology-like domain
NM_001377248.1 → NP_001364177.1 pleckstrin homology domain-containing family A member 1 isoform 6

Status: REVIEWED

Source sequence(s)

BX664700, BX842242

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
NM_001377249.1 → NP_001364178.1 pleckstrin homology domain-containing family A member 1 isoform 7

Status: REVIEWED

Source sequence(s)

BX664700, BX842242

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13271
Location:165 → 278

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:48 → 97

PH-like; Pleckstrin homology-like domain
NM_001377250.1 → NP_001364179.1 pleckstrin homology domain-containing family A member 1 isoform 8

Status: REVIEWED

Source sequence(s)

BX664700, BX842242

Conserved Domains (2) summary

cd13271
Location:182 → 295

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 114

PH-like; Pleckstrin homology-like domain
NM_001377251.1 → NP_001364180.1 pleckstrin homology domain-containing family A member 1 isoform 9

Status: REVIEWED

Source sequence(s)

BX664700, BX842242

Conserved Domains (2) summary

cd13271
Location:174 → 287

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 110

PH-like; Pleckstrin homology-like domain
NM_001377252.1 → NP_001364181.1 pleckstrin homology domain-containing family A member 1 isoform 10

Status: REVIEWED

Description

Transcript Variant: This variant (24), as well as variants 25 and 26, encodes isoform 10.

Source sequence(s)

BX664700, BX842242

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13271
Location:137 → 250

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
NM_001377253.1 → NP_001364182.1 pleckstrin homology domain-containing family A member 1 isoform 10

Status: REVIEWED

Description

Transcript Variant: This variant (25), as well as variants 24 and 26, encodes isoform 10.

Source sequence(s)

BX664700, BX842242

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13271
Location:137 → 250

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
NM_001377254.1 → NP_001364183.1 pleckstrin homology domain-containing family A member 1 isoform 10

Status: REVIEWED

Description

Transcript Variant: This variant (26), as well as variants 24 and 25, encodes isoform 10.

Source sequence(s)

BX664700, BX842242

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13271
Location:137 → 250

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
NM_001377255.1 → NP_001364184.1 pleckstrin homology domain-containing family A member 1 isoform 11

Status: REVIEWED

Source sequence(s)

BX664700, BX842242

Conserved Domains (2) summary

cd13271
Location:137 → 250

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
NM_001377256.1 → NP_001364185.1 pleckstrin homology domain-containing family A member 1 isoform 12

Status: REVIEWED

Source sequence(s)

BX664700, BX842242

Conserved Domains (2) summary

cd13271
Location:143 → 256

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
NM_001377257.1 → NP_001364186.1 pleckstrin homology domain-containing family A member 1 isoform 13

Status: REVIEWED

Source sequence(s)

BX664700, BX842242

Conserved Domains (2) summary

cd13271
Location:137 → 250

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

cl17171
Location:1 → 75

PH-like; Pleckstrin homology-like domain
NM_001377258.1 → NP_001364187.1 pleckstrin homology domain-containing family A member 1 isoform 14

Status: REVIEWED

Source sequence(s)

BX664700, BX842242

Conserved Domains (1) summary

cl17171
Location:1 → 117

PH-like; Pleckstrin homology-like domain
NM_021622.5 → NP_067635.2 pleckstrin homology domain-containing family A member 1 isoform 1

See identical proteins and their annotated locations for NP_067635.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 2, and 5-9 all encode the same isoform (1).

Source sequence(s)

BX664700, BX842242

Consensus CDS

CCDS7629.1

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

RNA

NR_165160.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

BX664700, BX842242
NR_165161.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

BX664700, BX842242
NR_165162.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

BX664700, BX842242
NR_165164.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

BX664700, BX842242
NR_165165.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

BX664700, BX842242

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

122374708..122442600

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024448108.2 → XP_024303876.1 pleckstrin homology domain-containing family A member 1 isoform X1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_047425608.1 → XP_047281564.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_024448114.2 → XP_024303882.1 pleckstrin homology domain-containing family A member 1 isoform X3

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_017016478.3 → XP_016871967.1 pleckstrin homology domain-containing family A member 1 isoform X1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_017016479.3 → XP_016871968.1 pleckstrin homology domain-containing family A member 1 isoform X2
XM_024448109.2 → XP_024303877.1 pleckstrin homology domain-containing family A member 1 isoform X1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_047425609.1 → XP_047281565.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_011540021.2 → XP_011538323.1 pleckstrin homology domain-containing family A member 1 isoform X1

See identical proteins and their annotated locations for XP_011538323.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_011540018.2 → XP_011538320.1 pleckstrin homology domain-containing family A member 1 isoform X1

See identical proteins and their annotated locations for XP_011538320.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_017016483.2 → XP_016871972.1 pleckstrin homology domain-containing family A member 1 isoform X4

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_017016487.2 → XP_016871976.1 pleckstrin homology domain-containing family A member 1 isoform X5

UniProtKB/TrEMBL

Q5RGS4

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_024448110.2 → XP_024303878.1 pleckstrin homology domain-containing family A member 1 isoform X1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_047425612.1 → XP_047281568.1 pleckstrin homology domain-containing family A member 1 isoform X5

UniProtKB/TrEMBL

Q5RGS4
XM_047425599.1 → XP_047281555.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_047425611.1 → XP_047281567.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_047425613.1 → XP_047281569.1 pleckstrin homology domain-containing family A member 1 isoform X5

UniProtKB/TrEMBL

Q5RGS4
XM_047425606.1 → XP_047281562.1 pleckstrin homology domain-containing family A member 1 isoform X3

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21
XM_011540017.2 → XP_011538319.1 pleckstrin homology domain-containing family A member 1 isoform X1

See identical proteins and their annotated locations for XP_011538319.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_017016484.2 → XP_016871973.1 pleckstrin homology domain-containing family A member 1 isoform X4

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_011540022.2 → XP_011538324.1 pleckstrin homology domain-containing family A member 1 isoform X1

See identical proteins and their annotated locations for XP_011538324.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_047425610.1 → XP_047281566.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_017016482.2 → XP_016871971.1 pleckstrin homology domain-containing family A member 1 isoform X3

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21

UniProtKB/TrEMBL

B2RBH1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_047425598.1 → XP_047281554.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_047425605.1 → XP_047281561.1 pleckstrin homology domain-containing family A member 1 isoform X3

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21
XM_011540019.2 → XP_011538321.1 pleckstrin homology domain-containing family A member 1 isoform X1

See identical proteins and their annotated locations for XP_011538321.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_011540024.2 → XP_011538326.1 pleckstrin homology domain-containing family A member 1 isoform X1

See identical proteins and their annotated locations for XP_011538326.1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_047425603.1 → XP_047281559.1 pleckstrin homology domain-containing family A member 1 isoform X3

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21
XM_047425600.1 → XP_047281556.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_024448113.2 → XP_024303881.1 pleckstrin homology domain-containing family A member 1 isoform X3

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21

UniProtKB/TrEMBL

B2RBH1

Related

ENSP00000376547.3, ENST00000392799.7

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_024448107.2 → XP_024303875.1 pleckstrin homology domain-containing family A member 1 isoform X1

Conserved Domains (2) summary

cd13270
Location:1 → 117

PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat

cd13271
Location:185 → 298

PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
XM_047425607.1 → XP_047281563.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_047425602.1 → XP_047281558.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_047425604.1 → XP_047281560.1 pleckstrin homology domain-containing family A member 1 isoform X3

UniProtKB/Swiss-Prot

B3KQ55, D3DRE2, Q9BVK0, Q9HB21

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

123270978..123338841

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366487.1 → XP_054222462.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366506.1 → XP_054222481.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_054366501.1 → XP_054222476.1 pleckstrin homology domain-containing family A member 1 isoform X3
XM_054366480.1 → XP_054222455.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366495.1 → XP_054222470.1 pleckstrin homology domain-containing family A member 1 isoform X2
XM_054366484.1 → XP_054222459.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366507.1 → XP_054222482.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_054366483.1 → XP_054222458.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366481.1 → XP_054222456.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366504.1 → XP_054222479.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_054366510.1 → XP_054222485.1 pleckstrin homology domain-containing family A member 1 isoform X5

UniProtKB/TrEMBL

Q5RGS4
XM_054366489.1 → XP_054222464.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366511.1 → XP_054222486.1 pleckstrin homology domain-containing family A member 1 isoform X5

UniProtKB/TrEMBL

Q5RGS4
XM_054366486.1 → XP_054222461.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366509.1 → XP_054222484.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_054366512.1 → XP_054222487.1 pleckstrin homology domain-containing family A member 1 isoform X5

UniProtKB/TrEMBL

Q5RGS4
XM_054366502.1 → XP_054222477.1 pleckstrin homology domain-containing family A member 1 isoform X3
XM_054366482.1 → XP_054222457.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366503.1 → XP_054222478.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_054366491.1 → XP_054222466.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366508.1 → XP_054222483.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_054366498.1 → XP_054222473.1 pleckstrin homology domain-containing family A member 1 isoform X3
XM_054366485.1 → XP_054222460.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366500.1 → XP_054222475.1 pleckstrin homology domain-containing family A member 1 isoform X3
XM_054366488.1 → XP_054222463.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366490.1 → XP_054222465.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366496.1 → XP_054222471.1 pleckstrin homology domain-containing family A member 1 isoform X3
XM_054366493.1 → XP_054222468.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366497.1 → XP_054222472.1 pleckstrin homology domain-containing family A member 1 isoform X3
XM_054366492.1 → XP_054222467.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366505.1 → XP_054222480.1 pleckstrin homology domain-containing family A member 1 isoform X4
XM_054366494.1 → XP_054222469.1 pleckstrin homology domain-containing family A member 1 isoform X1
XM_054366499.1 → XP_054222474.1 pleckstrin homology domain-containing family A member 1 isoform X3