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DIRAS1 DIRAS family GTPase 1 [ Homo sapiens (human) ]

Gene ID: 148252, updated on 1-Jun-2020

Summary

Official Symbol
DIRAS1provided by HGNC
Official Full Name
DIRAS family GTPase 1provided by HGNC
Primary source
HGNC:HGNC:19127
See related
Ensembl:ENSG00000176490 MIM:607862
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RIG; GBTS1; Di-Ras1
Summary
DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]
Expression
Biased expression in brain (RPKM 26.6), heart (RPKM 24.7) and 6 other tissues See more
Orthologs

Genomic context

See DIRAS1 in Genome Data Viewer
Location:
19p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (2714567..2721372, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2714565..2721390, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene G protein subunit gamma 7 Neighboring gene microRNA 7850 Neighboring gene GNG7 intron CAGE-defined B cell enhancer Neighboring gene solute carrier family 39 member 3 Neighboring gene small glutamine rich tetratricopeptide repeat containing alpha

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

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42681

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT mitogen-activated protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NOT positive regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
GTP-binding protein Di-Ras1
Names
DIRAS family, GTP-binding RAS-like 1
distinct subgroup of the Ras family member 1
ras-related inhibitor of cell growth
small GTP-binding tumor suppressor 1

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.

mRNA and Protein(s)

  1. NM_145173.4NP_660156.1  GTP-binding protein Di-Ras1

    See identical proteins and their annotated locations for NP_660156.1

    Status: VALIDATED

    Source sequence(s)
    AK124445, BC017484, BC030660, DA754806
    Consensus CDS
    CCDS12092.1
    UniProtKB/Swiss-Prot
    O95057
    Related
    ENSP00000325836.3, ENST00000323469.5
    Conserved Domains (1) summary
    cl21455
    Location:7168
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    2714567..2721372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527713.2XP_011526015.1  GTP-binding protein Di-Ras1 isoform X1

    Conserved Domains (2) summary
    PTZ00369
    Location:39232
    PTZ00369; Ras-like protein; Provisional
    cl21455
    Location:41202
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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