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

Gene ID: 148252, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:19127
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
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Genomic context

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Location:
19p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (2714567..2721372, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (2689849..2696659, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2714565..2721370, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene G protein subunit gamma 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2603289-2604055 Neighboring gene RNA, 7SL, cytoplasmic 121, pseudogene Neighboring gene H3K4me1 hESC enhancers GRCh37_chr19:2607315-2608169 and GRCh37_chr19:2608170-2609023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9803 Neighboring gene Sharpr-MPRA regulatory region 3019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13710 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:2626979-2628178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2643435-2643934 Neighboring gene microRNA 7850 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2650512-2650687 Neighboring gene GNG7 intron CAGE-defined B cell enhancer Neighboring gene MPRA-validated peak3237 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2678080-2678228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2723575-2724487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2734868-2735368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2735369-2735869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13716 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2739111-2739378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9807 Neighboring gene solute carrier family 39 member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2768763-2769263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9808 Neighboring gene small glutamine rich tetratricopeptide repeat co-chaperone alpha

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Analysis of the function and mechanism of DIRAS1 in osteosarcoma. Liu H, et al. Tissue Cell, 2022 Jun. PMID 35413492
  2. Methylation of DIRAS1 promotes colorectal cancer progression and may serve as a marker for poor prognosis. Zheng R, et al. Clin Epigenetics, 2017. PMID 28491151, Free PMC Article
  3. Downregulation of the novel tumor suppressor DIRAS1 predicts poor prognosis in esophageal squamous cell carcinoma. Zhu YH, et al. Cancer Res, 2013 Apr 1. PMID 23436800
  4. Rig is a novel Ras-related protein and potential neural tumor suppressor. Ellis CA, et al. Proc Natl Acad Sci U S A, 2002 Jul 23. PMID 12107278, Free PMC Article
  5. Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. Wielaender F, et al. Proc Natl Acad Sci U S A, 2017 Mar 7. PMID 28223533, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. M6A modification regulates tumor suppressor DIRAS1 expression in cervical cancer cells.
    Title: M6A modification regulates tumor suppressor DIRAS1 expression in cervical cancer cells.
  2. Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease.
    Title: Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease.
  3. Analysis of the function and mechanism of DIRAS1 in osteosarcoma.
    Title: Analysis of the function and mechanism of DIRAS1 in osteosarcoma.
  4. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization.
    Title: Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.
  5. Results show that DIRAS1 is frequently methylated in human colorectal cancer and the expression of DIRAS1 is silenced by promoter region methylation.
    Title: Methylation of DIRAS1 promotes colorectal cancer progression and may serve as a marker for poor prognosis.
  6. DiRas1 expression inhibits malignant features of cancers in part by nonproductively binding to SmgGDS and inhibiting the binding of other small GTPases to SmgGDS
    Title: The Tumor-suppressive Small GTPase DiRas1 Binds the Noncanonical Guanine Nucleotide Exchange Factor SmgGDS and Antagonizes SmgGDS Interactions with Oncogenic Small GTPases.
  7. DIRAS1 downregulation is associated with esophageal squamous cell carcinoma metastasis.
    Title: Downregulation of the novel tumor suppressor DIRAS1 predicts poor prognosis in esophageal squamous cell carcinoma.
  8. a novel Ras-related protein and potential neural tumor suppressor (RIG)
    Title: Rig is a novel Ras-related protein and potential neural tumor suppressor.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42681

Gene Ontology Provided by GOA

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

General protein information

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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)

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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)

  1. NM_145173.4 → NP_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
    cl38936
    Location:7 → 168
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047438276.1 → XP_047294232.1  GTP-binding protein Di-Ras1 isoform X1

  2. XM_047438274.1 → XP_047294230.1  GTP-binding protein Di-Ras1 isoform X1

  3. XM_047438275.1 → XP_047294231.1  GTP-binding protein Di-Ras1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    2689849..2696659 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320005.1 → XP_054175980.1  GTP-binding protein Di-Ras1 isoform X1

  2. XM_054320003.1 → XP_054175978.1  GTP-binding protein Di-Ras1 isoform X1

  3. XM_054320004.1 → XP_054175979.1  GTP-binding protein Di-Ras1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95057.1 GenPept UniProtKB/Swiss-Prot:O95057

Gene LinkOut

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