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

    Gene ID: 8522, updated on 3-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:4169
    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
    mouse all
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    Genomic context

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    Location:
    17p13.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (9910606..10198606, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (9818341..10106358, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (9813923..10101923, 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 H3K4me1 hESC enhancer GRCh37_chr17:9802365-9802866 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9828374-9829300 Neighboring gene recoverin Neighboring gene ReSE screen-validated silencer GRCh37_chr17:9862137-9862330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9884467-9884968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:9929360-9929865 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:9929866-9930370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9937053-9937552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9936551-9937052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11728 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9964299-9964800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9971697-9972196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10010547-10011088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10020585-10021114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10021115-10021644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10022175-10022702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10022877-10023835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10030567-10031284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11730 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10074140-10074966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10074967-10075792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10076620-10077445 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:10083873-10084415 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:10108420-10109619 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10113552-10114271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10114272-10114990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8200 Neighboring gene RPS27A pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 11916 Neighboring gene uncharacterized LOC107985004 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:10195435-10196634 Neighboring gene Sharpr-MPRA regulatory region 3410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10212735-10213249 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:10232009-10232227 Neighboring gene myosin heavy chain 13

    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. Solution NMR structure and ligand identification of human Gas7 SH3 domain reveal a typical SH3 fold but a non-canonical ligand-binding mode. Nie Y, et al. Biochem Biophys Res Commun, 2019 Sep 3. PMID 31296381
    2. Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population. Xu J, et al. Ophthalmic Genet, 2019 Jun. PMID 31269845
    3. Polymorphism rs11656696 in GAS7 Is Not Associated with Primary Open Angle Glaucoma in a Saudi Cohort. Kondkar AA, et al. Genet Test Mol Biomarkers, 2017 Dec. PMID 29022762
    4. Gas7b (growth arrest specific protein 7b) regulates neuronal cell morphology by enhancing microtubule and actin filament assembly. Gotoh A, et al. J Biol Chem, 2013 Nov 29. PMID 24151073, Free PMC Article
    5. Alzheimer's disease-related protein hGas7b interferes with kinesin motility. Hidaka M, et al. J Biochem, 2012 Jun. PMID 22496485

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Single-nucleotide polymorphisms of TLR4 and GAS7 linked to primary open-angle glaucoma among patients of Shenyang, China.
      Title: Single-nucleotide polymorphisms of TLR4 and GAS7 linked to primary open-angle glaucoma among patients of Shenyang, China.
    2. Gas7 attenuates hepatocellular carcinoma progression and chemoresistance through the PI3K/Akt signaling pathway.
      Title: Gas7 attenuates hepatocellular carcinoma progression and chemoresistance through the PI3K/Akt signaling pathway.
    3. Circ_0078607 increases platinum drug sensitivity via miR-196b-5p/GAS7 axis in ovarian cancer.
      Title: Circ_0078607 increases platinum drug sensitivity via miR-196b-5p/GAS7 axis in ovarian cancer.
    4. Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants with primary open-angle glaucoma in a Brazilian population.
      Title: Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants with primary open-angle glaucoma in a Brazilian population.
    5. GAS7 Deficiency Promotes Metastasis in MYCN-Driven Neuroblastoma.
      Title: GAS7 Deficiency Promotes Metastasis in MYCN-Driven Neuroblastoma.
    6. Growth arrest specific protein 7 inhibits tau fibrillogenesis.
      Title: Growth arrest specific protein 7 inhibits tau fibrillogenesis.
    7. Reported here is the solution NMR structure of Gas7 SH3 domain which displays a typical SH3 beta-barrel fold comprising five beta-strands and one 310-helix. Structural and sequence comparison showed that Gas7-SH3 shares high similarity with Abl SH3 domain, which binds to a high-affinity proline-rich peptide P41 in a canonical SH3-ligand binding mode through two hydrophobic pockets and a specificity site in the RT-loop.
      Title: Solution NMR structure and ligand identification of human Gas7 SH3 domain reveal a typical SH3 fold but a non-canonical ligand-binding mode.
    8. Single nucleotide polymorphism in GAS7 gene is associated as a protective factor for primary open-Angle Glaucoma.
      Title: Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population.
    9. A novel regulatory mechanism of p53 in early onset breast cancer progression through GAS7-CYFIP1-mediated signaling pathways.
      Title: Wild-type p53 upregulates an early onset breast cancer-associated gene GAS7 to suppress metastasis via GAS7-CYFIP1-mediated signaling pathway.
    10. Polymorphism rs11656696 is not associated with primary open angle glaucoma (POAG) nor any of its endophenotypic traits such as intraocular pressure and cup/disk ratio and is thus not a risk factor for POAG in this Saudi cohort
      Title: Polymorphism rs11656696 in GAS7 Is Not Associated with Primary Open Angle Glaucoma in a Saudi Cohort.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1348, KIAA0394

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    growth arrest-specific protein 7

    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_029502.2 RefSeqGene

      Range
      4946..292946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130831.2 → NP_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/TrEMBL
      Q59GS9
      Related
      ENSP00000410108.2, ENST00000437099.6
      Conserved Domains (2) summary
      cd07649
      Location:150 → 382
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:45 → 137
      WW_FCH_linker; Unstructured linker region between on GAS7 protein

    2. NM_003644.3 → NP_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/TrEMBL
      B7Z1Q2
      Related
      ENSP00000463873.1, ENST00000580865.5
      Conserved Domains (2) summary
      cd07649
      Location:74 → 306
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:12 → 61
      WW_FCH_linker; Unstructured linker region between on GAS7 protein

    3. NM_201432.2 → NP_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/TrEMBL
      Q59GS9
      Related
      ENSP00000464240.2, ENST00000585266.5
      Conserved Domains (2) summary
      cd07649
      Location:154 → 386
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:49 → 141
      WW_FCH_linker; Unstructured linker region between on GAS7 protein

    4. NM_201433.2 → NP_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
      A8KAC2, B2RCK9, O43144, O60861, Q53Y77, Q7Z571
      UniProtKB/TrEMBL
      Q59GS9
      Related
      ENSP00000407552.2, ENST00000432992.7
      Conserved Domains (3) summary
      cd07649
      Location:214 → 446
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      cd11829
      Location:5 → 57
      SH3_GAS7; Src homology 3 domain of Growth Arrest Specific protein 7
      pfam16623
      Location:109 → 201
      WW_FCH_linker; Unstructured linker region between on GAS7 protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011524044.4 → XP_011522346.1  growth arrest-specific protein 7 isoform X2

      See identical proteins and their annotated locations for XP_011522346.1

      UniProtKB/TrEMBL
      Q59GS9
      Related
      ENSP00000322608.5, ENST00000323816.8
      Conserved Domains (2) summary
      cd07649
      Location:150 → 382
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:45 → 137
      WW_FCH_linker; Unstructured linker region between on GAS7 protein

    2. XM_047436955.1 → XP_047292911.1  growth arrest-specific protein 7 isoform X2

    3. XM_047436954.1 → XP_047292910.1  growth arrest-specific protein 7 isoform X2

    4. XM_005256832.5 → XP_005256889.1  growth arrest-specific protein 7 isoform X2

      See identical proteins and their annotated locations for XP_005256889.1

      UniProtKB/TrEMBL
      Q59GS9
      Conserved Domains (2) summary
      cd07649
      Location:150 → 382
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:45 → 137
      WW_FCH_linker; Unstructured linker region between on GAS7 protein

    5. XM_047436953.1 → XP_047292909.1  growth arrest-specific protein 7 isoform X1

    6. XM_005256831.5 → XP_005256888.1  growth arrest-specific protein 7 isoform X2

      See identical proteins and their annotated locations for XP_005256888.1

      UniProtKB/TrEMBL
      Q59GS9
      Conserved Domains (2) summary
      cd07649
      Location:150 → 382
      F-BAR_GAS7; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Growth Arrest Specific protein 7
      pfam16623
      Location:45 → 137
      WW_FCH_linker; Unstructured linker region between on GAS7 protein

    7. XM_047436956.1 → XP_047292912.1  growth arrest-specific protein 7 isoform X2

      Related
      ENSP00000463527.2, ENST00000579158.5

    8. XM_047436957.1 → XP_047292913.1  growth arrest-specific protein 7 isoform X2

    9. XM_047436958.1 → XP_047292914.1  growth arrest-specific protein 7 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      9818341..10106358 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317600.1 → XP_054173575.1  growth arrest-specific protein 7 isoform X2

    2. XM_054317601.1 → XP_054173576.1  growth arrest-specific protein 7 isoform X2

    3. XM_054317598.1 → XP_054173573.1  growth arrest-specific protein 7 isoform X2

    4. XM_054317599.1 → XP_054173574.1  growth arrest-specific protein 7 isoform X2

    5. XM_054317596.1 → XP_054173571.1  growth arrest-specific protein 7 isoform X1

    6. XM_054317597.1 → XP_054173572.1  growth arrest-specific protein 7 isoform X2

    7. XM_054317602.1 → XP_054173577.1  growth arrest-specific protein 7 isoform X2

    8. XM_054317603.1 → XP_054173578.1  growth arrest-specific protein 7 isoform X2

    9. XM_054317604.1 → XP_054173579.1  growth arrest-specific protein 7 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60861.3 GenPept UniProtKB/Swiss-Prot:O60861

    Gene LinkOut

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