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GAS8 growth arrest specific 8 [ Homo sapiens (human) ]

Gene ID: 2622, updated on 17-Jun-2019

Summary

Official Symbol
GAS8provided by HGNC
Official Full Name
growth arrest specific 8provided by HGNC
Primary source
HGNC:HGNC:4166
See related
Ensembl:ENSG00000141013 MIM:605178
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
Also known as
DRC4; GAS11; CILD33
Summary
This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Expression
Ubiquitous expression in testis (RPKM 6.8), thyroid (RPKM 6.8) and 25 other tissues See more
Orthologs

Genomic context

See GAS8 in Genome Data Viewer
Location:
16q24.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (90019629..90044971)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (90086056..90111379)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CENPB DNA-binding domain containing 1 Neighboring gene AFG3 like matrix AAA peptidase subunit 1, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3926 Neighboring gene dysbindin domain containing 1 Neighboring gene GAS8 antisense RNA 1 Neighboring gene urate (hydroxyiso-) hydrolase, pseudogene Neighboring gene PR/SET domain 7 Neighboring gene tubulin beta 8 class VIII pseudogene 7

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

Associated conditions

Description Tests
Ciliary dyskinesia, primary, 33
MedGen: C4225230 OMIM: 616726 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of tanning phenotype in a population of European ancestry.
NHGRI GWA Catalog

Pathways from BioSystems

  • Activation of SMO, organism-specific biosystem (from REACTOME)
    Activation of SMO, organism-specific biosystemActivation of the transmembrane protein SMO in response to Hh stimulation is a major control point in the Hh signaling pathway (reviewed in Ayers and Therond, 2010; Jiang and Hui, 2008). In the absen...
  • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138326

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axoneme assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium movement involved in cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
 
epithelial cilium movement IEA
Inferred from Electronic Annotation
more info
 
flagellated sperm motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
positive regulation of protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IDA
Inferred from Direct Assay
more info
PubMed 
motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
sperm flagellum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dynein regulatory complex subunit 4
Names
GAS-11
epididymis secretory sperm binding protein
growth arrest-specific protein 11
growth arrest-specific protein 8

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_046598.1 RefSeqGene

    Range
    5001..30343
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286205.1NP_001273134.1  dynein regulatory complex subunit 4 isoform b

    See identical proteins and their annotated locations for NP_001273134.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site at the 5' end of an exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AF050079, AK293958, BC104785, BX647947
    Consensus CDS
    CCDS73932.1
    UniProtKB/Swiss-Prot
    O95995
    UniProtKB/TrEMBL
    A0A087WZT7, B7Z1U9
    Related
    ENSP00000482877.1, ENST00000620723.4
    Conserved Domains (1) summary
    pfam13851
    Location:138337
    GAS; Growth-arrest specific micro-tubule binding
  2. NM_001286208.1NP_001273137.1  dynein regulatory complex subunit 4 isoform c

    See identical proteins and their annotated locations for NP_001273137.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site at the 5' end of an exon and lacks an alternate internal exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC133919, AF050079, BC104785, BX647947
    UniProtKB/Swiss-Prot
    O95995
    Conserved Domains (1) summary
    pfam13851
    Location:29228
    GAS; Growth-arrest specific micro-tubule binding
  3. NM_001286209.1NP_001273138.1  dynein regulatory complex subunit 4 isoform d

    See identical proteins and their annotated locations for NP_001273138.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC133919, AF050079, AK297857, BC104785, BX647947, DA504655, DC370728
    Consensus CDS
    CCDS67101.1
    UniProtKB/Swiss-Prot
    O95995
    Related
    ENSP00000440977.1, ENST00000536122.7
    Conserved Domains (2) summary
    pfam13851
    Location:196395
    GAS; Growth-arrest specific micro-tubule binding
    cl25732
    Location:47320
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_001481.3NP_001472.1  dynein regulatory complex subunit 4 isoform a

    See identical proteins and their annotated locations for NP_001472.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AF050079, BC104785, BX647947
    Consensus CDS
    CCDS10992.1
    UniProtKB/Swiss-Prot
    O95995
    Related
    ENSP00000268699.4, ENST00000268699.9
    Conserved Domains (2) summary
    pfam13851
    Location:221420
    GAS; Growth-arrest specific micro-tubule binding
    cl25732
    Location:72345
    SMC_N; RecF/RecN/SMC N terminal domain

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_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    90019629..90044971
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023122.1XP_016878611.1  dynein regulatory complex subunit 4 isoform X2

    UniProtKB/TrEMBL
    A0A087WZT7
    Conserved Domains (1) summary
    pfam13851
    Location:138337
    GAS; Growth-arrest specific micro-tubule binding
  2. XM_005256309.4XP_005256366.1  dynein regulatory complex subunit 4 isoform X3

    See identical proteins and their annotated locations for XP_005256366.1

    Conserved Domains (1) summary
    pfam13851
    Location:29228
    GAS; Growth-arrest specific micro-tubule binding
  3. XM_011522991.1XP_011521293.1  dynein regulatory complex subunit 4 isoform X2

    See identical proteins and their annotated locations for XP_011521293.1

    UniProtKB/TrEMBL
    A0A087WZT7
    Conserved Domains (1) summary
    pfam13851
    Location:138337
    GAS; Growth-arrest specific micro-tubule binding
  4. XM_011522992.2XP_011521294.1  dynein regulatory complex subunit 4 isoform X2

    See identical proteins and their annotated locations for XP_011521294.1

    UniProtKB/TrEMBL
    A0A087WZT7
    Conserved Domains (1) summary
    pfam13851
    Location:138337
    GAS; Growth-arrest specific micro-tubule binding
  5. XM_011522990.2XP_011521292.1  dynein regulatory complex subunit 4 isoform X2

    See identical proteins and their annotated locations for XP_011521292.1

    UniProtKB/TrEMBL
    A0A087WZT7
    Conserved Domains (1) summary
    pfam13851
    Location:138337
    GAS; Growth-arrest specific micro-tubule binding
  6. XM_017023123.1XP_016878612.1  dynein regulatory complex subunit 4 isoform X2

    UniProtKB/TrEMBL
    A0A087WZT7
    Conserved Domains (1) summary
    pfam13851
    Location:138337
    GAS; Growth-arrest specific micro-tubule binding
  7. XM_024450228.1XP_024305996.1  dynein regulatory complex subunit 4 isoform X1

    Conserved Domains (2) summary
    pfam13851
    Location:196395
    GAS; Growth-arrest specific micro-tubule binding
    cl25732
    Location:47320
    SMC_N; RecF/RecN/SMC N terminal domain
  8. XM_006721175.3XP_006721238.1  dynein regulatory complex subunit 4 isoform X2

    See identical proteins and their annotated locations for XP_006721238.1

    UniProtKB/TrEMBL
    A0A087WZT7
    Conserved Domains (1) summary
    pfam13851
    Location:138337
    GAS; Growth-arrest specific micro-tubule binding
  9. XM_017023125.1XP_016878614.1  dynein regulatory complex subunit 4 isoform X3

    Conserved Domains (1) summary
    pfam13851
    Location:29228
    GAS; Growth-arrest specific micro-tubule binding
  10. XM_017023124.1XP_016878613.1  dynein regulatory complex subunit 4 isoform X3

    Conserved Domains (1) summary
    pfam13851
    Location:29228
    GAS; Growth-arrest specific micro-tubule binding

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_023348.1: Suppressed sequence

    Description
    NR_023348.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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