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GAPT GRB2 binding adaptor protein, transmembrane [ Homo sapiens (human) ]

Gene ID: 202309, updated on 5-Mar-2024

Summary

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Official Symbol
GAPTprovided by HGNC
Official Full Name
GRB2 binding adaptor protein, transmembraneprovided by HGNC
Primary source
HGNC:HGNC:26588
See related
Ensembl:ENSG00000175857 MIM:620440; AllianceGenome:HGNC:26588
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C5orf29
Summary
Predicted to be involved in B cell homeostasis and B cell proliferation involved in immune response. Located in Golgi apparatus and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in appendix (RPKM 12.0), lymph node (RPKM 8.4) and 11 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
5q11.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (58491435..58497090)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (59309277..59314932)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (57787262..57792917)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378984 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:57702094-57702742 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:57741340-57742539 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86531 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:57752058-57753257 Neighboring gene Sharpr-MPRA regulatory region 13863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22583 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86533 Neighboring gene polo like kinase 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86555 Neighboring gene NANOG hESC enhancer GRCh37_chr5:57826133-57826634 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:57826656-57827264 Neighboring gene microRNA 548ae-2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:57839100-57840299 Neighboring gene long intergenic non-protein coding RNA 2108

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Identification of sequence-tagged transcripts differentially expressed within the human hematopoietic hierarchy. Claudio JO, et al. Genomics, 1998 May 15. PMID 9628821
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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General gene information

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Homology

Clone Names

  • FLJ33641, MGC70478

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in B cell homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in B cell proliferation involved in immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in immunoglobulin production involved in immunoglobulin-mediated immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
protein GAPT
Names
GRB2-binding adapter protein, transmembrane
GRB2-binding transmembrane adaptor
growth factor receptor-bound protein 2-binding adapter protein, transmembrane

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.

mRNA and Protein(s)

  1. NM_001304428.2 → NP_001291357.1  protein GAPT

    See identical proteins and their annotated locations for NP_001291357.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AC008814, DA008727, DA347824
    Consensus CDS
    CCDS3975.1
    UniProtKB/Swiss-Prot
    Q8N292
    Related
    ENSP00000508387.1, ENST00000513924.2
    Conserved Domains (1) summary
    pfam11770
    Location:3 → 155
    GAPT; GRB2-binding adapter (GAPT)

  2. NM_001304429.2 → NP_001291358.1  protein GAPT

    See identical proteins and their annotated locations for NP_001291358.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has two alternate splice sites in the 5' UTR and encodes the same protein, compared to variant 1.
    Source sequence(s)
    AA220230, AC008814, DA008727
    Consensus CDS
    CCDS3975.1
    UniProtKB/Swiss-Prot
    Q8N292
    Related
    ENSP00000507091.1, ENST00000515443.2
    Conserved Domains (1) summary
    pfam11770
    Location:3 → 155
    GAPT; GRB2-binding adapter (GAPT)

  3. NM_001304431.2 → NP_001291360.1  protein GAPT

    See identical proteins and their annotated locations for NP_001291360.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate splice site in the 5' UTR and encodes the same protein, compared to variant 1.
    Source sequence(s)
    AC008814, DA008727
    Consensus CDS
    CCDS3975.1
    UniProtKB/Swiss-Prot
    Q8N292
    Related
    ENSP00000423113.2, ENST00000502276.6
    Conserved Domains (1) summary
    pfam11770
    Location:3 → 155
    GAPT; GRB2-binding adapter (GAPT)

  4. NM_152687.4 → NP_689900.1  protein GAPT

    See identical proteins and their annotated locations for NP_689900.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has three alternate splice sites in the 5' UTR and encodes the same protein, compared to variant 1.
    Source sequence(s)
    AC008814, AK090960, DA008727
    Consensus CDS
    CCDS3975.1
    UniProtKB/Swiss-Prot
    Q8N292
    Related
    ENSP00000379997.2, ENST00000396776.6
    Conserved Domains (1) summary
    pfam11770
    Location:3 → 155
    GAPT; GRB2-binding adapter (GAPT)

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    58491435..58497090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416909.1 → XP_047272865.1  protein GAPT isoform X1

    UniProtKB/Swiss-Prot
    Q8N292

  2. XM_047416910.1 → XP_047272866.1  protein GAPT isoform X1

    UniProtKB/Swiss-Prot
    Q8N292
    Related
    ENSP00000422645.2, ENST00000511930.2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    59309277..59314932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352007.1 → XP_054207982.1  protein GAPT isoform X1

    UniProtKB/Swiss-Prot
    Q8N292

  2. XM_054352008.1 → XP_054207983.1  protein GAPT isoform X1

    UniProtKB/Swiss-Prot
    Q8N292
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N292.1 GenPept UniProtKB/Swiss-Prot:Q8N292

Gene LinkOut

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