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

Gene ID: 8522, updated on 2-Oct-2018

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; Vega:OTTHUMG00000177945
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 Jun 15 11:32:44 2016

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_029502.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001130831.1NP_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, BC006454, BP202727
    Consensus CDS
    CCDS58518.1
    UniProtKB/Swiss-Prot
    O60861
    Related
    ENSP00000410108.2, OTTHUMP00000258148, ENST00000437099.6, OTTHUMT00000439867
    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_003644.2NP_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, AJ224876
    Consensus CDS
    CCDS45611.1
    UniProtKB/Swiss-Prot
    O60861
    Related
    ENSP00000463873.1, OTTHUMP00000258151, ENST00000580865.5, OTTHUMT00000439870
    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_201432.1NP_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, BC006454
    Consensus CDS
    CCDS42263.1
    UniProtKB/Swiss-Prot
    O60861
    Related
    ENSP00000464240.2, OTTHUMP00000258150, ENST00000585266.5, OTTHUMT00000439869
    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_201433.1NP_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, AY327406
    Consensus CDS
    CCDS11152.1
    UniProtKB/Swiss-Prot
    O60861
    Related
    ENSP00000407552.2, OTTHUMP00000258162, ENST00000432992.6, OTTHUMT00000439883
    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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    9910609..10198551 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, OTTHUMP00000258149, 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, OTTHUMP00000259486, 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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