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

    Gene ID: 202309, updated on 28-Oct-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, Oct 2024]
    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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    See GAPT in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (58491435..58497090)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (59309277..59314932)
    RS_2024_09 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 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
    		  
    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_2024_08

    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

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