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Aliases for DIRAS3 Gene

Aliases for DIRAS3 Gene

  • DIRAS Family GTPase 3 2 3 5
  • Distinct Subgroup Of The Ras Family Member 3 3 4
  • DIRAS Family, GTP-Binding RAS-Like 3 2 3
  • Rho-Related GTP-Binding Protein RhoI 3 4
  • Ras Homolog Gene Family, Member I 2 3
  • NOEY2 3 4
  • ARHI 3 4
  • GTP-Binding Protein Di-Ras3 3
  • RHOI 4

External Ids for DIRAS3 Gene

Previous HGNC Symbols for DIRAS3 Gene

  • ARHI

Previous GeneCards Identifiers for DIRAS3 Gene

  • GC01M068224
  • GC01M068284
  • GC01M068511
  • GC01M066622

Summaries for DIRAS3 Gene

Entrez Gene Summary for DIRAS3 Gene

  • 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]

GeneCards Summary for DIRAS3 Gene

DIRAS3 (DIRAS Family GTPase 3) is a Protein Coding gene. Among its related pathways are GPCR Pathway and Phospholipase-C Pathway. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is DIRAS2.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIRAS3 Gene

Genomics for DIRAS3 Gene

Regulatory Elements for DIRAS3 Gene

Enhancers for DIRAS3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G067625 1.7 FANTOM5 Ensembl ENCODE dbSUPER 6.1 +421.0 421012 10.2 PKNOX1 ZFP64 YY1 GATA2 FOS MCM3 REST ZNF623 ZNF518A ZNF292 GADD45A RNU6-1031P DIRAS3 RN7SL392P LOC105378780
GH01G067811 1.3 Ensembl ENCODE dbSUPER 5.7 +236.0 235972 8.5 ELF3 PKNOX1 BMI1 YY1 RELB IKZF2 ZNF680 USF2 GATAD2B ZNF623 GNG12 RNU7-80P DIRAS3 GNG12-AS1
GH01G067887 1.5 FANTOM5 Ensembl ENCODE 4.7 +162.1 162143 3.6 CBX3 ATF1 INSM2 FEZF1 ZEB1 RFX5 GATA2 EGR1 FOS CREM GNG12 GNG12-AS1 DIRAS3 LOC100133029
GH01G068049 0.6 ENCODE 11.6 +1.3 1311 1.0 SUZ12 NRF1 HLF CBX2 CEBPB CEBPG IRF9 SCRT2 HNF4A EZH2 DIRAS3 ARL5AP3
GH01G067801 1.2 Ensembl ENCODE dbSUPER 5.4 +248.2 248223 4.6 CTCF ZFP37 ZEB2 CEBPG DPF2 HIC1 GATA3 JUND ZNF366 IKZF1 GNG12 GNG12-AS1 RNU7-80P RNU6-1031P DIRAS3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DIRAS3 on UCSC Golden Path with GeneCards custom track

Promoters for DIRAS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000008300 832 1800 CTCF SUZ12 CEBPG RAD21 IRF9 SCRT2 SMC3 EZH2 RNF2 HLF

Genomic Location for DIRAS3 Gene

Chromosome:
1
Start:
68,045,962 bp from pter
End:
68,051,733 bp from pter
Size:
5,772 bases
Orientation:
Minus strand

Genomic View for DIRAS3 Gene

Genes around DIRAS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIRAS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIRAS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIRAS3 Gene

Proteins for DIRAS3 Gene

  • Protein details for DIRAS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95661-DIRA3_HUMAN
    Recommended name:
    GTP-binding protein Di-Ras3
    Protein Accession:
    O95661
    Secondary Accessions:
    • B3KMP3

    Protein attributes for DIRAS3 Gene

    Size:
    229 amino acids
    Molecular mass:
    25861 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DIRAS3 Gene

Post-translational modifications for DIRAS3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DIRAS3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DIRAS3 Gene

Domains & Families for DIRAS3 Gene

Gene Families for DIRAS3 Gene

Protein Domains for DIRAS3 Gene

Suggested Antigen Peptide Sequences for DIRAS3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95661

UniProtKB/Swiss-Prot:

DIRA3_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 DIRAS3: view

Function for DIRAS3 Gene

Gene Ontology (GO) - Molecular Function for DIRAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity TAS,IEA --
GO:0005515 protein binding IPI 21643014
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with DIRAS3: view
genes like me logo Genes that share phenotypes with DIRAS3: view

Animal Model Products

CRISPR Products

miRNA for DIRAS3 Gene

miRTarBase miRNAs that target DIRAS3

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DIRAS3 Gene

Localization for DIRAS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIRAS3 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 DIRAS3 gene
Compartment Confidence
plasma membrane 3
mitochondrion 2
cytosol 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DIRAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DIRAS3: view

Pathways & Interactions for DIRAS3 Gene

genes like me logo Genes that share pathways with DIRAS3: view

Gene Ontology (GO) - Biological Process for DIRAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity TAS 9874798
GO:0006349 regulation of gene expression by genetic imprinting TAS 9874798
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction TAS 9874798
genes like me logo Genes that share ontologies with DIRAS3: view

No data available for SIGNOR curated interactions for DIRAS3 Gene

Drugs & Compounds for DIRAS3 Gene

No Compound Related Data Available

Transcripts for DIRAS3 Gene

mRNA/cDNA for DIRAS3 Gene

Unigene Clusters for DIRAS3 Gene

DIRAS family, GTP-binding RAS-like 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DIRAS3 Gene

No ASD Table

Relevant External Links for DIRAS3 Gene

GeneLoc Exon Structure for
DIRAS3
ECgene alternative splicing isoforms for
DIRAS3

Expression for DIRAS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DIRAS3 Gene

mRNA differential expression in normal tissues according to GTEx for DIRAS3 Gene

This gene is overexpressed in Brain - Hypothalamus (x15.3), Brain - Nucleus accumbens (basal ganglia) (x6.1), and Pituitary (x5.6).

NURSA nuclear receptor signaling pathways regulating expression of DIRAS3 Gene:

DIRAS3

SOURCE GeneReport for Unigene cluster for DIRAS3 Gene:

Hs.194695

mRNA Expression by UniProt/SwissProt for DIRAS3 Gene:

O95661-DIRA3_HUMAN
Tissue specificity: Expressed in normal ovarian and breast epithelial cells but not in ovarian and breast cancers.

Evidence on tissue expression from TISSUES for DIRAS3 Gene

  • Bone marrow(4.1)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with DIRAS3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DIRAS3 Gene

Orthologs for DIRAS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DIRAS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DIRAS3 34 35
  • 99.85 (n)
cow
(Bos Taurus)
Mammalia DIRAS3 34 35
  • 76.75 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 27 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RAP2B 35
  • 27 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 51 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-27j5.5 35
  • 15 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8500 35
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea drn-1 35
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToMany
Species where no ortholog for DIRAS3 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)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DIRAS3 Gene

ENSEMBL:
Gene Tree for DIRAS3 (if available)
TreeFam:
Gene Tree for DIRAS3 (if available)

Paralogs for DIRAS3 Gene

Paralogs for DIRAS3 Gene

(17) SIMAP similar genes for DIRAS3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DIRAS3: view

Variants for DIRAS3 Gene

Sequence variations from dbSNP and Humsavar for DIRAS3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000528542 -- 68,051,750(+) CCTGG(C/T)GGCGG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001024243 -- 68,045,946(+) GAGAC(A/C)AATTC intron-variant, downstream-variant-500B
rs1001432543 -- 68,051,611(+) CCAGC(G/T)GCTAG intron-variant, utr-variant-5-prime
rs1001883580 -- 68,051,856(+) TAGTC(A/G)TTGAC intron-variant, upstream-variant-2KB
rs1001962077 -- 68,051,374(+) GACAT(-/AAAC)AGACA intron-variant, utr-variant-5-prime

Variation tolerance for DIRAS3 Gene

Residual Variation Intolerance Score: 24.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DIRAS3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIRAS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DIRAS3 Gene

Disorders for DIRAS3 Gene

Relevant External Links for DIRAS3

Genetic Association Database (GAD)
DIRAS3
Human Genome Epidemiology (HuGE) Navigator
DIRAS3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIRAS3

No disorders were found for DIRAS3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DIRAS3 Gene

Publications for DIRAS3 Gene

  1. NOEY2 (ARHI), an imprinted putative tumor suppressor gene in ovarian and breast carcinomas. (PMID: 9874798) Yu Y.H. … Bast R.C. Jr. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 22 64
  2. ARHI (DIRAS3), an imprinted tumour suppressor gene, binds to importins and blocks nuclear import of cargo proteins. (PMID: 19435463) Huang S. … Yu Y. (Biosci. Rep. 2010) 3 22 64
  3. NOEY2 mutations in primary breast cancers and breast hyperplasia. (PMID: 19482475) Yang J. … Li T. (Breast 2009) 3 46 64
  4. Frequent biallelic inactivation and transcriptional silencing of the DIRAS3 gene at 1p31 in oligodendroglial tumors with 1p loss. (PMID: 18302158) Riemenschneider M.J. … Reifenberger G. (Int. J. Cancer 2008) 3 22 64
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64

Products for DIRAS3 Gene

Sources for DIRAS3 Gene

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