DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004] See more...

Aliases for DIRAS1 Gene

Aliases for DIRAS1 Gene

  • DIRAS Family GTPase 1 2 3 5
  • Distinct Subgroup Of The Ras Family Member 1 3 4
  • Ras-Related Inhibitor Of Cell Growth 3 4
  • Small GTP-Binding Tumor Suppressor 1 3 4
  • DIRAS Family, GTP-Binding RAS-Like 1 2 3
  • GTP-Binding Protein Di-Ras1 3 4
  • GBTS1 3 4
  • RIG 3 4
  • Di-Ras1 3
  • Rig 4

External Ids for DIRAS1 Gene

Previous GeneCards Identifiers for DIRAS1 Gene

  • GC19M002783
  • GC19M002654
  • GC19M002665
  • GC19M002484

Summaries for DIRAS1 Gene

Entrez Gene Summary for DIRAS1 Gene

  • DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]

GeneCards Summary for DIRAS1 Gene

DIRAS1 (DIRAS Family GTPase 1) is a Protein Coding gene. Diseases associated with DIRAS1 include Photosensitive Epilepsy. Gene Ontology (GO) annotations related to this gene include GTP binding and mitogen-activated protein kinase binding. An important paralog of this gene is DIRAS2.

UniProtKB/Swiss-Prot Summary for DIRAS1 Gene

  • Displays low GTPase activity and exists predominantly in the GTP-bound form.

Additional gene information for DIRAS1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DIRAS1 Gene

Genomics for DIRAS1 Gene

GeneHancer (GH) Regulatory Elements for DIRAS1 Gene

Promoters and enhancers for DIRAS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DIRAS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DIRAS1

Top Transcription factor binding sites by QIAGEN in the DIRAS1 gene promoter:
  • COMP1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • NF-1
  • NF-1/L
  • Pax-5

Genomic Locations for DIRAS1 Gene

Genomic Locations for DIRAS1 Gene
chr19:2,714,567-2,721,392
(GRCh38/hg38)
Size:
6,826 bases
Orientation:
Minus strand
chr19:2,714,565-2,721,416
(GRCh37/hg19)
Size:
6,852 bases
Orientation:
Minus strand

Genomic View for DIRAS1 Gene

Genes around DIRAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIRAS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIRAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIRAS1 Gene

Proteins for DIRAS1 Gene

  • Protein details for DIRAS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95057-DIRA1_HUMAN
    Recommended name:
    GTP-binding protein Di-Ras1
    Protein Accession:
    O95057

    Protein attributes for DIRAS1 Gene

    Size:
    198 amino acids
    Molecular mass:
    22329 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DIRAS1 Gene

neXtProt entry for DIRAS1 Gene

Post-translational modifications for DIRAS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DIRAS1 Gene

No data available for DME Specific Peptides for DIRAS1 Gene

Domains & Families for DIRAS1 Gene

Gene Families for DIRAS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DIRAS1 Gene

Blocks:
  • Ras small GTPase, Ras type
  • Transforming protein P21 RAS signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DIRAS1 Gene

GenScript: Design optimal peptide antigens:
  • Small GTP-binding tumor suppressor 1 (DIRA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95057

UniProtKB/Swiss-Prot:

DIRA1_HUMAN :
  • Belongs to the small GTPase superfamily. Di-Ras family.
Family:
  • Belongs to the small GTPase superfamily. Di-Ras family.
genes like me logo Genes that share domains with DIRAS1: view

Function for DIRAS1 Gene

Molecular function for DIRAS1 Gene

UniProtKB/Swiss-Prot Function:
Displays low GTPase activity and exists predominantly in the GTP-bound form.

Phenotypes From GWAS Catalog for DIRAS1 Gene

Gene Ontology (GO) - Molecular Function for DIRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA,IEA 12194967
GO:0005525 GTP binding IDA,IEA 12194967
GO:0019003 GDP binding IBA 21873635
GO:0051019 NOT mitogen-activated protein kinase binding IPI 12194967
genes like me logo Genes that share ontologies with DIRAS1: view
genes like me logo Genes that share phenotypes with DIRAS1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIRAS1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DIRAS1 Gene

Localization for DIRAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIRAS1 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIRAS1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 2
extracellular 0
mitochondrion 0

Gene Ontology (GO) - Cellular Components for DIRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,IBA 12194967
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DIRAS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DIRAS1 Gene

Pathways & Interactions for DIRAS1 Gene

PathCards logo

SuperPathways for DIRAS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DIRAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0043406 NOT positive regulation of MAP kinase activity IDA 12194967
genes like me logo Genes that share ontologies with DIRAS1: view

No data available for Pathways by source and SIGNOR curated interactions for DIRAS1 Gene

Drugs & Compounds for DIRAS1 Gene

(1) Drugs for DIRAS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DIRAS1: view

Transcripts for DIRAS1 Gene

mRNA/cDNA for DIRAS1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIRAS1

Alternative Splicing Database (ASD) splice patterns (SP) for DIRAS1 Gene

No ASD Table

Relevant External Links for DIRAS1 Gene

GeneLoc Exon Structure for
DIRAS1

Expression for DIRAS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DIRAS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DIRAS1 Gene

This gene is overexpressed in Heart - Atrial Appendage (x6.8), Heart - Left Ventricle (x6.5), Brain - Frontal Cortex (BA9) (x5.1), Brain - Cortex (x4.2), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for DIRAS1 Gene

This gene is overexpressed in Spinal cord (17.7), Brain (14.9), Frontal cortex (13.6), Retina (11.1), and Fetal Brain (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DIRAS1 Gene



Protein tissue co-expression partners for DIRAS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DIRAS1

SOURCE GeneReport for Unigene cluster for DIRAS1 Gene:

Hs.172753

mRNA Expression by UniProt/SwissProt for DIRAS1 Gene:

O95057-DIRA1_HUMAN
Tissue specificity: Highly expressed in heart and brain.

Evidence on tissue expression from TISSUES for DIRAS1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with DIRAS1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DIRAS1 Gene

Orthologs for DIRAS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DIRAS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DIRAS1 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DIRAS1 31 30
  • 94.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DIRAS1 31 30
  • 92.59 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIRAS1 31
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Diras1 17 31 30
  • 90.07 (n)
rat
(Rattus norvegicus)
Mammalia Diras1 30
  • 89.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DIRAS1 31
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858997 30
  • 90.07 (n)
DIRAS1 31
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIRAS1 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia diras1 30
  • 74.58 (n)
zebrafish
(Danio rerio)
Actinopterygii diras1a 31
  • 81 (a)
OneToMany
diras1b 31 30
  • 78.28 (n)
OneToMany
-- 30
fruit fly
(Drosophila melanogaster)
Insecta CG8500 31
  • 62 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea drn-1 31 30
  • 56.03 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Species where no ortholog for DIRAS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DIRAS1 Gene

ENSEMBL:
Gene Tree for DIRAS1 (if available)
TreeFam:
Gene Tree for DIRAS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DIRAS1: view image

Paralogs for DIRAS1 Gene

genes like me logo Genes that share paralogs with DIRAS1: view

Variants for DIRAS1 Gene

Additional dbSNP identifiers (rs#s) for DIRAS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DIRAS1 Gene

Variant ID Type Subtype PubMed ID
esv2229192 CNV deletion 18987734
esv3643435 CNV loss 21293372
esv3643436 CNV gain 21293372
nsv1144854 CNV deletion 24896259
nsv470109 CNV loss 18288195
nsv509714 CNV insertion 20534489
nsv578398 CNV gain 21841781
nsv819697 CNV loss 19587683
nsv828397 CNV gain 20364138
nsv828399 CNV gain 20364138

Variation tolerance for DIRAS1 Gene

Residual Variation Intolerance Score: 37.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DIRAS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIRAS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DIRAS1 Gene

Disorders for DIRAS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DIRAS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
photosensitive epilepsy
  • photoparoxysmal response 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DIRAS1

genes like me logo Genes that share disorders with DIRAS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DIRAS1 Gene

Publications for DIRAS1 Gene

  1. Rig is a novel Ras-related protein and potential neural tumor suppressor. (PMID: 12107278) Ellis CA … Clark GJ (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 54
  4. Di-Ras, a distinct subgroup of ras family GTPases with unique biochemical properties. (PMID: 12194967) Kontani K … Katada T (The Journal of biological chemistry 2002) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for DIRAS1 Gene

Sources for DIRAS1 Gene