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

Gene ID: 59338, updated on 3-Apr-2024

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
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Genomic context

See PLEKHA1 in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124050601-124051101 Neighboring gene BTB domain containing 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124053014-124054004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4142 Neighboring gene RNA, U6 small nuclear 728, pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:124128134-124128658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2893 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2891 Neighboring gene microRNA 3941 Neighboring gene uncharacterized LOC105378525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124233495-124234018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124234019-124234540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124235637-124236362 Neighboring gene age-related maculopathy susceptibility 2 Neighboring gene HtrA serine peptidase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:124253973-124255172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124264199-124264698

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
EBI GWAS Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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

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

  1. NG_027823.2 RefSeqGene

    Range
    5002..62639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001974.4NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  2. NM_001195608.2NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  3. NM_001330178.2NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  4. NM_001377230.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  5. NM_001377231.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  6. NM_001377232.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  7. NM_001377234.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  8. NM_001377235.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  9. NM_001377237.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  10. NM_001377238.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  11. NM_001377240.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  12. NM_001377241.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  13. NM_001377242.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  14. NM_001377243.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  15. NM_001377244.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  16. NM_001377245.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  17. NM_001377246.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  18. NM_001377247.1NP_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:174287
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    cl17171
    Location:1110
    PH-like; Pleckstrin homology-like domain
  19. NM_001377248.1NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  20. NM_001377249.1NP_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:165278
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    cl17171
    Location:4897
    PH-like; Pleckstrin homology-like domain
  21. NM_001377250.1NP_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:182295
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    cl17171
    Location:1114
    PH-like; Pleckstrin homology-like domain
  22. NM_001377251.1NP_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:174287
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    cl17171
    Location:1110
    PH-like; Pleckstrin homology-like domain
  23. NM_001377252.1NP_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:137250
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    cl17171
    Location:175
    PH-like; Pleckstrin homology-like domain
  24. NM_001377253.1NP_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:137250
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    cl17171
    Location:175
    PH-like; Pleckstrin homology-like domain
  25. NM_001377254.1NP_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:137250
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    cl17171
    Location:175
    PH-like; Pleckstrin homology-like domain
  26. NM_001377255.1NP_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:137250
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    cl17171
    Location:175
    PH-like; Pleckstrin homology-like domain
  27. NM_001377256.1NP_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:143256
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    cl17171
    Location:175
    PH-like; Pleckstrin homology-like domain
  28. NM_001377257.1NP_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:137250
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    cl17171
    Location:175
    PH-like; Pleckstrin homology-like domain
  29. NM_001377258.1NP_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:1117
    PH-like; Pleckstrin homology-like domain
  30. NM_021622.5NP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat

RNA

  1. NR_165160.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BX664700, BX842242
  2. NR_165161.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BX664700, BX842242
  3. NR_165162.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BX664700, BX842242
  4. NR_165164.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BX664700, BX842242
  5. 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

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    122374708..122442600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    cd13270
    Location:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  2. XM_047425608.1XP_047281564.1  pleckstrin homology domain-containing family A member 1 isoform X4

  3. XM_024448114.2XP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  4. XM_017016478.3XP_016871967.1  pleckstrin homology domain-containing family A member 1 isoform X1

    Conserved Domains (2) summary
    cd13270
    Location:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  5. XM_017016479.3XP_016871968.1  pleckstrin homology domain-containing family A member 1 isoform X2

  6. XM_024448109.2XP_024303877.1  pleckstrin homology domain-containing family A member 1 isoform X1

    Conserved Domains (2) summary
    cd13270
    Location:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  7. XM_047425609.1XP_047281565.1  pleckstrin homology domain-containing family A member 1 isoform X4

  8. XM_011540021.2XP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  9. XM_011540018.2XP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  10. XM_017016483.2XP_016871972.1  pleckstrin homology domain-containing family A member 1 isoform X4

    Conserved Domains (2) summary
    cd13270
    Location:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  11. XM_017016487.2XP_016871976.1  pleckstrin homology domain-containing family A member 1 isoform X5

    UniProtKB/TrEMBL
    Q5RGS4
    Conserved Domains (2) summary
    cd13270
    Location:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  12. XM_024448110.2XP_024303878.1  pleckstrin homology domain-containing family A member 1 isoform X1

    Conserved Domains (2) summary
    cd13270
    Location:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  13. XM_047425612.1XP_047281568.1  pleckstrin homology domain-containing family A member 1 isoform X5

    UniProtKB/TrEMBL
    Q5RGS4
  14. XM_047425599.1XP_047281555.1  pleckstrin homology domain-containing family A member 1 isoform X1

  15. XM_047425611.1XP_047281567.1  pleckstrin homology domain-containing family A member 1 isoform X4

  16. XM_047425613.1XP_047281569.1  pleckstrin homology domain-containing family A member 1 isoform X5

    UniProtKB/TrEMBL
    Q5RGS4
  17. XM_047425606.1XP_047281562.1  pleckstrin homology domain-containing family A member 1 isoform X3

    UniProtKB/Swiss-Prot
    B3KQ55, D3DRE2, Q9BVK0, Q9HB21
  18. XM_011540017.2XP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  19. XM_017016484.2XP_016871973.1  pleckstrin homology domain-containing family A member 1 isoform X4

    Conserved Domains (2) summary
    cd13270
    Location:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  20. XM_011540022.2XP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  21. XM_047425610.1XP_047281566.1  pleckstrin homology domain-containing family A member 1 isoform X4

  22. XM_017016482.2XP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  23. XM_047425598.1XP_047281554.1  pleckstrin homology domain-containing family A member 1 isoform X1

  24. XM_047425605.1XP_047281561.1  pleckstrin homology domain-containing family A member 1 isoform X3

    UniProtKB/Swiss-Prot
    B3KQ55, D3DRE2, Q9BVK0, Q9HB21
  25. XM_011540019.2XP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  26. XM_011540024.2XP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  27. XM_047425603.1XP_047281559.1  pleckstrin homology domain-containing family A member 1 isoform X3

    UniProtKB/Swiss-Prot
    B3KQ55, D3DRE2, Q9BVK0, Q9HB21
  28. XM_047425600.1XP_047281556.1  pleckstrin homology domain-containing family A member 1 isoform X1

  29. XM_024448113.2XP_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:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  30. XM_024448107.2XP_024303875.1  pleckstrin homology domain-containing family A member 1 isoform X1

    Conserved Domains (2) summary
    cd13270
    Location:1117
    PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
    cd13271
    Location:185298
    PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
  31. XM_047425607.1XP_047281563.1  pleckstrin homology domain-containing family A member 1 isoform X4

  32. XM_047425602.1XP_047281558.1  pleckstrin homology domain-containing family A member 1 isoform X1

  33. XM_047425604.1XP_047281560.1  pleckstrin homology domain-containing family A member 1 isoform X3

    UniProtKB/Swiss-Prot
    B3KQ55, D3DRE2, Q9BVK0, Q9HB21

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    123270978..123338841
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366487.1XP_054222462.1  pleckstrin homology domain-containing family A member 1 isoform X1

  2. XM_054366506.1XP_054222481.1  pleckstrin homology domain-containing family A member 1 isoform X4

  3. XM_054366501.1XP_054222476.1  pleckstrin homology domain-containing family A member 1 isoform X3

  4. XM_054366480.1XP_054222455.1  pleckstrin homology domain-containing family A member 1 isoform X1

  5. XM_054366495.1XP_054222470.1  pleckstrin homology domain-containing family A member 1 isoform X2

  6. XM_054366484.1XP_054222459.1  pleckstrin homology domain-containing family A member 1 isoform X1

  7. XM_054366507.1XP_054222482.1  pleckstrin homology domain-containing family A member 1 isoform X4

  8. XM_054366483.1XP_054222458.1  pleckstrin homology domain-containing family A member 1 isoform X1

  9. XM_054366481.1XP_054222456.1  pleckstrin homology domain-containing family A member 1 isoform X1

  10. XM_054366504.1XP_054222479.1  pleckstrin homology domain-containing family A member 1 isoform X4

  11. XM_054366510.1XP_054222485.1  pleckstrin homology domain-containing family A member 1 isoform X5

    UniProtKB/TrEMBL
    Q5RGS4
  12. XM_054366489.1XP_054222464.1  pleckstrin homology domain-containing family A member 1 isoform X1

  13. XM_054366511.1XP_054222486.1  pleckstrin homology domain-containing family A member 1 isoform X5

    UniProtKB/TrEMBL
    Q5RGS4
  14. XM_054366486.1XP_054222461.1  pleckstrin homology domain-containing family A member 1 isoform X1

  15. XM_054366509.1XP_054222484.1  pleckstrin homology domain-containing family A member 1 isoform X4

  16. XM_054366512.1XP_054222487.1  pleckstrin homology domain-containing family A member 1 isoform X5

    UniProtKB/TrEMBL
    Q5RGS4
  17. XM_054366502.1XP_054222477.1  pleckstrin homology domain-containing family A member 1 isoform X3

  18. XM_054366482.1XP_054222457.1  pleckstrin homology domain-containing family A member 1 isoform X1

  19. XM_054366503.1XP_054222478.1  pleckstrin homology domain-containing family A member 1 isoform X4

  20. XM_054366491.1XP_054222466.1  pleckstrin homology domain-containing family A member 1 isoform X1

  21. XM_054366508.1XP_054222483.1  pleckstrin homology domain-containing family A member 1 isoform X4

  22. XM_054366498.1XP_054222473.1  pleckstrin homology domain-containing family A member 1 isoform X3

  23. XM_054366485.1XP_054222460.1  pleckstrin homology domain-containing family A member 1 isoform X1

  24. XM_054366500.1XP_054222475.1  pleckstrin homology domain-containing family A member 1 isoform X3

  25. XM_054366488.1XP_054222463.1  pleckstrin homology domain-containing family A member 1 isoform X1

  26. XM_054366490.1XP_054222465.1  pleckstrin homology domain-containing family A member 1 isoform X1

  27. XM_054366496.1XP_054222471.1  pleckstrin homology domain-containing family A member 1 isoform X3

  28. XM_054366493.1XP_054222468.1  pleckstrin homology domain-containing family A member 1 isoform X1

  29. XM_054366497.1XP_054222472.1  pleckstrin homology domain-containing family A member 1 isoform X3

  30. XM_054366492.1XP_054222467.1  pleckstrin homology domain-containing family A member 1 isoform X1

  31. XM_054366505.1XP_054222480.1  pleckstrin homology domain-containing family A member 1 isoform X4

  32. XM_054366494.1XP_054222469.1  pleckstrin homology domain-containing family A member 1 isoform X1

  33. XM_054366499.1XP_054222474.1  pleckstrin homology domain-containing family A member 1 isoform X3