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

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; AllianceGenome:HGNC:4166
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: mouse all
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Genomic context

Location:: 16q24.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (90019633..90044960)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (96105808..96131173)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (90086041..90111368)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA GAS8-AS1 downregulates lncRNA NEAT1 to inhibit glioblastoma cell proliferation.
Title: LncRNA GAS8-AS1 downregulates lncRNA NEAT1 to inhibit glioblastoma cell proliferation.
Expression analysis of growth arrest specific 8 and its anti-sense in breast cancer tissues.
Title: Expression analysis of growth arrest specific 8 and its anti-sense in breast cancer tissues.
The current study shows significance of GAS8 and GAS8-AS1 in the pathogenesis of MS and the putative role of GAS8-AS1 as a diagnostic biomarker in a subset of patients.
Title: GAS8 and its naturally occurring antisense RNA as biomarkers in multiple sclerosis.
Expression of GAS8-AS1 or GAS8 is significantly decreased in hepatocellular carcinoma tissues and is associated with a poor prognosis among hepatocellular carcinoma patients.
Title: The long noncoding RNA GAS8-AS1 suppresses hepatocarcinogenesis by epigenetically activating the tumor suppressor GAS8.
In papillary thyroid carcinoma (PTC) cell lines, GAS8-AS1 inhibited proliferation, activated autophagy, and increased ATG5 expression. Downregulation of ATG5 reversed GAS8-AS1-mediated activation of autophagy leading to cell death, revealing a novel mechanism of the GAS8-AS1-ATG5 axis in PTC cell lines.
Title: LncRNA GAS8-AS1 inhibits cell proliferation through ATG5-mediated autophagy in papillary thyroid cancer.
Study identifies bi-allelic loss-of-function mutations in GAS8 as a cause for primary ciliary dyskinesia, and unveils the key importance of the protein encoded by this gene in N-DRC integrity and in the proper alignment of axonemal microtubules in humans.
Title: Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
Here, we generate the first mouse with a Gas8 mutation and show that it causes severe Primary Ciliary Dyskinesia (PCD)phenotypes; however, there were no overt Hh pathway phenotypes. In addition, we identified two human patients with missense variants in Gas8
Title: Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
Title: Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
A two-hybrid screen for proteins that interact with NS1 from influenza A yielded growth arrest-specific protein 8. Gas8 associated with NS1 in vitro and in vivo.
Title: Interaction of influenza virus NS1 protein with growth arrest-specific protein 8.

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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

Associated conditions

Description	Tests
Primary ciliary dyskinesia 33 MedGen: C4225230 OMIM: 616726 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of tanning phenotype in a population of European ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-61195 (e-PCR)
- UniSTS:82752

NoName (e-PCR)
- UniSTS:481110

RH48729 (e-PCR)
- UniSTS:81373

RH48427 (e-PCR)
- UniSTS:58614

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in cilium movement involved in cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
involved_in epithelial cilium movement involved in extracellular fluid movement	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in regulation of microtubule binding	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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)

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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

NG_046598.1 RefSeqGene

Range

8052..30332

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001286205.2 → NP_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/TrEMBL

A0A087WZT7, B7Z1U9

Related

ENSP00000482877.1, ENST00000620723.4

Conserved Domains (2) summary

COG1196
Location:6 → 262

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam13851
Location:138 → 337

GAS; Growth-arrest specific micro-tubule binding
NM_001286208.2 → NP_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:29 → 228

GAS; Growth-arrest specific micro-tubule binding
NM_001286209.2 → NP_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/TrEMBL

B7Z1U9

Related

ENSP00000440977.1, ENST00000536122.7

Conserved Domains (2) summary

COG1196
Location:47 → 320

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam13851
Location:196 → 395

GAS; Growth-arrest specific micro-tubule binding
NM_001481.3 → NP_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

B2RCT1, B7Z4U1, G3V1L5, O95995, Q2M234

UniProtKB/TrEMBL

A0A384MR00, B7Z1U9

Related

ENSP00000268699.4, ENST00000268699.9

Conserved Domains (2) summary

pfam13851
Location:221 → 420

GAS; Growth-arrest specific micro-tubule binding

cl25732
Location:72 → 345

SMC_N; RecF/RecN/SMC N terminal domain

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

90019633..90044960

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011522992.3 → XP_011521294.1 dynein regulatory complex subunit 4 isoform X1

See identical proteins and their annotated locations for XP_011521294.1

UniProtKB/TrEMBL

A0A087WZT7, B7Z1U9

Conserved Domains (2) summary

COG1196
Location:6 → 262

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam13851
Location:138 → 337

GAS; Growth-arrest specific micro-tubule binding
XM_006721175.4 → XP_006721238.1 dynein regulatory complex subunit 4 isoform X1

See identical proteins and their annotated locations for XP_006721238.1

UniProtKB/TrEMBL

A0A087WZT7, B7Z1U9

Conserved Domains (2) summary

COG1196
Location:6 → 262

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam13851
Location:138 → 337

GAS; Growth-arrest specific micro-tubule binding

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

96105808..96131173

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054380021.1 → XP_054235996.1 dynein regulatory complex subunit 4 isoform X1

UniProtKB/TrEMBL

A0A087WZT7
XM_054380020.1 → XP_054235995.1 dynein regulatory complex subunit 4 isoform X1

UniProtKB/TrEMBL

A0A087WZT7

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NR_023348.1: Suppressed sequence

Description

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