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    GAS7 growth arrest specific 7 [ Homo sapiens (human) ]

    Gene ID: 8522, updated on 15-Jun-2019

    Summary

    Official Symbol
    GAS7provided by HGNC
    Official Full Name
    growth arrest specific 7provided by HGNC
    Primary source
    HGNC:HGNC:4169
    See related
    Ensembl:ENSG00000007237 MIM:603127
    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
    Summary
    Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 53.9), skin (RPKM 13.3) and 17 other tissues See more
    Orthologs

    Genomic context

    See GAS7 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (9910609..10198551, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (9813926..10101868, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene glucagon like peptide 2 receptor Neighboring gene nucleophosmin 1 pseudogene 45 Neighboring gene recoverin Neighboring gene ribosomal protein S27a pseudogene 1 Neighboring gene uncharacterized LOC107985004 Neighboring gene myosin heavy chain 13

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Common genetic determinants of intraocular pressure and primary open-angle glaucoma.
    NHGRI GWA Catalog
    Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
    NHGRI GWA Catalog
    Genome-wide association study and meta-analysis of intraocular pressure.
    NHGRI GWA Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC1348, KIAA0394

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoskeletal protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell cycle arrest TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    growth arrest-specific protein 7

    NCBI Reference Sequences (RefSeq)

    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_029502.2 RefSeqGene

      Range
      5001..292943
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130831.2NP_001124303.1  growth arrest-specific protein 7 isoform d

      See identical proteins and their annotated locations for NP_001124303.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d) uses an alternate first exon resulting in a shorter 5' UTR and alternative translation initiation site, compared to variant c. The encoded protein (isoform d) is shorter than that encoded by variant c.
      Source sequence(s)
      AB007854, AC026591, BC006454, BP202727
      Consensus CDS
      CCDS58518.1
      UniProtKB/Swiss-Prot
      O60861
      Related
      ENSP00000410108.2, ENST00000437099.6
      Conserved Domains (2) summary
      cd07649
      Location:150382
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:45137
      WW_FCH_linker; Unstructured linker region between on GAS7 protein
    2. NM_003644.3NP_003635.2  growth arrest-specific protein 7 isoform a

      See identical proteins and their annotated locations for NP_003635.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) uses an alternate first exon resulting in a shorter 5' UTR and alternative translation initiation site, compared to variant c. The encoded protein (isoform a) is shorter than that encoded by variant c.
      Source sequence(s)
      AB007854, AC026591, AJ224876
      Consensus CDS
      CCDS45611.1
      UniProtKB/Swiss-Prot
      O60861
      Related
      ENSP00000463873.1, ENST00000580865.5
      Conserved Domains (2) summary
      cd07649
      Location:74306
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:1261
      WW_FCH_linker; Unstructured linker region between on GAS7 protein
    3. NM_201432.2NP_958836.1  growth arrest-specific protein 7 isoform b

      See identical proteins and their annotated locations for NP_958836.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) utilizes an alternate splice site in a 5' exon, resulting in a shorter 5' UTR. The encoded protein (isoform b) is shorter than that encoded by variant c.
      Source sequence(s)
      AB007854, AC026591, BC006454
      Consensus CDS
      CCDS42263.1
      UniProtKB/Swiss-Prot
      O60861
      Related
      ENSP00000464240.2, ENST00000585266.5
      Conserved Domains (2) summary
      cd07649
      Location:154386
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:49141
      WW_FCH_linker; Unstructured linker region between on GAS7 protein
    4. NM_201433.2NP_958839.1  growth arrest-specific protein 7 isoform c

      See identical proteins and their annotated locations for NP_958839.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) represents the longest variant and encodes the longest isoform (c).
      Source sequence(s)
      AB007854, AC026591, AC083783, AY327406
      Consensus CDS
      CCDS11152.1
      UniProtKB/Swiss-Prot
      O60861
      Related
      ENSP00000407552.2, ENST00000432992.6
      Conserved Domains (3) summary
      cd07649
      Location:214446
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      cd11829
      Location:557
      SH3_GAS7; Src homology 3 domain of Growth Arrest Specific protein 7
      pfam16623
      Location:109201
      WW_FCH_linker; Unstructured linker region between on GAS7 protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      9910606..10198606 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524044.3XP_011522346.1  growth arrest-specific protein 7 isoform X1

      See identical proteins and their annotated locations for XP_011522346.1

      UniProtKB/Swiss-Prot
      O60861
      Related
      ENSP00000322608.5, ENST00000323816.8
      Conserved Domains (2) summary
      cd07649
      Location:150382
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:45137
      WW_FCH_linker; Unstructured linker region between on GAS7 protein
    2. XM_005256832.4XP_005256889.1  growth arrest-specific protein 7 isoform X1

      See identical proteins and their annotated locations for XP_005256889.1

      UniProtKB/Swiss-Prot
      O60861
      Related
      ENSP00000463527.2, ENST00000579158.5
      Conserved Domains (2) summary
      cd07649
      Location:150382
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:45137
      WW_FCH_linker; Unstructured linker region between on GAS7 protein
    3. XM_005256835.4XP_005256892.1  growth arrest-specific protein 7 isoform X4

      See identical proteins and their annotated locations for XP_005256892.1

      Conserved Domains (2) summary
      cd07649
      Location:91323
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:3378
      WW_FCH_linker; Unstructured linker region between on GAS7 protein
    4. XM_005256833.4XP_005256890.1  growth arrest-specific protein 7 isoform X4

      See identical proteins and their annotated locations for XP_005256890.1

      Conserved Domains (2) summary
      cd07649
      Location:91323
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:3378
      WW_FCH_linker; Unstructured linker region between on GAS7 protein
    5. XM_017025242.2XP_016880731.1  growth arrest-specific protein 7 isoform X4

      Conserved Domains (2) summary
      cd07649
      Location:91323
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:3378
      WW_FCH_linker; Unstructured linker region between on GAS7 protein
    6. XM_017025239.2XP_016880728.1  growth arrest-specific protein 7 isoform X1

      UniProtKB/Swiss-Prot
      O60861
      Conserved Domains (2) summary
      cd07649
      Location:150382
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:45137
      WW_FCH_linker; Unstructured linker region between on GAS7 protein
    7. XM_005256831.4XP_005256888.1  growth arrest-specific protein 7 isoform X1

      See identical proteins and their annotated locations for XP_005256888.1

      UniProtKB/Swiss-Prot
      O60861
      Conserved Domains (2) summary
      cd07649
      Location:150382
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:45137
      WW_FCH_linker; Unstructured linker region between on GAS7 protein
    8. XM_005256834.4XP_005256891.1  growth arrest-specific protein 7 isoform X4

      See identical proteins and their annotated locations for XP_005256891.1

      Conserved Domains (2) summary
      cd07649
      Location:91323
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:3378
      WW_FCH_linker; Unstructured linker region between on GAS7 protein
    9. XM_017025241.2XP_016880730.1  growth arrest-specific protein 7 isoform X3

    10. XM_017025240.2XP_016880729.1  growth arrest-specific protein 7 isoform X2

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