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DIRAS3 DIRAS family GTPase 3 [ Homo sapiens (human) ]

Gene ID: 9077, updated on 4-Jul-2021

Summary

Official Symbol
DIRAS3provided by HGNC
Official Full Name
DIRAS family GTPase 3provided by HGNC
Primary source
HGNC:HGNC:687
See related
Ensembl:ENSG00000162595 MIM:605193
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
ARHI; NOEY2
Summary
This gene encodes a member of the ras superfamily. This gene is imprinted gene with monoallelic expression of the paternal allele which is associated with growth suppression. The encoded protein acts as a tumor suppressor whose function is abrogated in many ovarian and breast cancers. This protein may also play a role autophagy in certain cancer cells by regulating the autophagosome initiation complex. [provided by RefSeq, Nov 2015]
Expression
Biased expression in ovary (RPKM 20.7), adrenal (RPKM 6.9) and 11 other tissues See more
Orthologs
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Genomic context

See DIRAS3 in Genome Data Viewer
Location:
1p31.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (68045962..68050627, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (68511569..68517314, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene G protein subunit gamma 12 Neighboring gene uncharacterized LOC105378781 Neighboring gene RNA, U7 small nuclear 80 pseudogene Neighboring gene GNG12, DIRAS3 and WLS antisense RNA 1 Neighboring gene sirtuin 5 pseudogene Neighboring gene ARL5A pseudogene 3 Neighboring gene Wnt ligand secretion mediator Neighboring gene CTBP2 pseudogene 8 Neighboring gene microRNA 1262

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 Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2011-10-19)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2011-10-19)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
GTP-binding protein Di-Ras3
Names
DIRAS family, GTP-binding RAS-like 3
distinct subgroup of the Ras family member 3
ras homolog gene family, member I
rho-related GTP-binding protein RhoI

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_011753.1 RefSeqGene

    Range
    5151..9816
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1034

mRNA and Protein(s)

  1. NM_004675.5NP_004666.1  GTP-binding protein Di-Ras3 precursor

    See identical proteins and their annotated locations for NP_004666.1

    Status: REVIEWED

    Source sequence(s)
    AL157407
    Consensus CDS
    CCDS641.1
    UniProtKB/Swiss-Prot
    O95661
    Related
    ENSP00000495736.1, ENST00000646789.1
    Conserved Domains (1) summary
    cl21455
    Location:37200
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    68045962..68050627 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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