Gas8 growth arrest specific 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gas8provided by MGI
Official Full Name: growth arrest specific 8provided by MGI
Primary source: MGI:MGI:1202386
See related: Ensembl:ENSMUSG00000040220 AllianceGenome:MGI:1202386
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gas11
Summary: Enables microtubule binding activity and small GTPase binding activity. Involved in positive regulation of protein localization to cilium; positive regulation of smoothened signaling pathway; and regulation of microtubule binding activity. Acts upstream of or within several processes, including axoneme assembly; epithelial cilium movement involved in extracellular fluid movement; and flagellated sperm motility. Located in Golgi apparatus; ciliary basal body; and sperm flagellum. Is expressed in bronchus; nasal cavity epithelium; and nervous system. Used to study primary ciliary dyskinesia 33. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 33. Orthologous to human GAS8 (growth arrest specific 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E11.5 (RPKM 9.4), testis adult (RPKM 8.2) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 72.1 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (124245630..124263394)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (123518835..123536657)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
results identify Gas8 as a positive regulator of Hh signaling that cooperates with GRK2 to control Smo signaling
Title: Growth Arrest Specific 8 (Gas8) and G protein-coupled receptor kinase 2 (GRK2) cooperate in the control of Smoothened signaling.
Gas8 was specifically interacted with the GTP-bound form of Rab3B and co-localized with Rab3B at the Golgi in NIH 3T3 cells
Title: Interaction of Rab3B with microtubule-binding protein Gas8 in NIH 3T3 cells.
Gas11, the mammalian trypanin/PF2 homologue, associates with microtubules in vitro and in vivo.
Title: Direct interaction of Gas11 with microtubules: implications for the dynein regulatory complex.
a growth arrest specific gene regulated during male gametogensis
Title: Isolation and properties of Gas8, a growth arrest-specific gene regulated during male gametogenesis to produce a protein associated with the sperm motility apparatus.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axoneme assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell motility	IEA Inferred from Electronic Annotation more info
involved_in cilium movement involved in cell motility	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in flagellated sperm motility	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of protein localization to cilium	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to cilium	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of microtubule binding	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in 9+2 motile cilium	EXP Inferred from Experiment more info	PubMed
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	ISO Inferred from Sequence Orthology more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dynein regulatory complex subunit 4

Names: GAS-11; GAS-8; beta growth arrest specific protein 11; growth arrest specific 11; 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.

mRNA and Protein(s)

NM_001426530.1 → NP_001413459.1 dynein regulatory complex subunit 4 isoform 2

Status: VALIDATED

Source sequence(s)

AC141881, AC158362
NM_001426531.1 → NP_001413460.1 dynein regulatory complex subunit 4 isoform 3

Status: VALIDATED

Source sequence(s)

AC141881, AC158362
NM_018855.3 → NP_061343.2 dynein regulatory complex subunit 4 isoform 1

See identical proteins and their annotated locations for NP_061343.2

Status: VALIDATED

Source sequence(s)

AC141881, AC158362

Consensus CDS

CCDS40512.1

UniProtKB/Swiss-Prot

Q60779, Q99L71

UniProtKB/TrEMBL

A0A1D5RM05, Q49MD7

Related

ENSMUSP00000090730.6, ENSMUST00000093043.7

Conserved Domains (1) summary

pfam13851
Location:221 → 420

GAS; Growth-arrest specific micro-tubule binding

RNA

NR_189740.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC141881, AC158362

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

124245630..124263394

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030243229.2 → XP_030099089.1 dynein regulatory complex subunit 4 isoform X3

Conserved Domains (1) summary

pfam13851
Location:42 → 241

GAS; Growth-arrest specific micro-tubule binding
XM_006530552.3 → XP_006530615.1 dynein regulatory complex subunit 4 isoform X4

Conserved Domains (1) summary

pfam13851
Location:29 → 228

GAS; Growth-arrest specific micro-tubule binding