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Aliases for ARHGAP31 Gene

Aliases for ARHGAP31 Gene

  • Rho GTPase Activating Protein 31 2 3 5
  • CDC42 GTPase-Activating Protein 3 4
  • CDGAP 3 4
  • Rho GTPase-Activating Protein 31 3
  • KIAA1204 4
  • AOS1 3

External Ids for ARHGAP31 Gene

Previous GeneCards Identifiers for ARHGAP31 Gene

  • GC03P119013
  • GC03P116388

Summaries for ARHGAP31 Gene

Entrez Gene Summary for ARHGAP31 Gene

  • This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARHGAP31 Gene

ARHGAP31 (Rho GTPase Activating Protein 31) is a Protein Coding gene. Diseases associated with ARHGAP31 include Adams-Oliver Syndrome 1 and Adams-Oliver Syndrome. Among its related pathways are G-protein signaling_Regulation of CDC42 activity and Signaling by GPCR. GO annotations related to this gene include GTPase activator activity and SH3 domain binding. An important paralog of this gene is ARHGAP32.

UniProtKB/Swiss-Prot for ARHGAP31 Gene

  • Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration.

Gene Wiki entry for ARHGAP31 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGAP31 Gene

Genomics for ARHGAP31 Gene

Regulatory Elements for ARHGAP31 Gene

Enhancers for ARHGAP31 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
GH03F119348 1.5 FANTOM5 Ensembl ENCODE 27.8 +57.2 57239 6.1 ATF1 TBL1XR1 RAD21 ETS1 YY1 CBX5 ETV6 CREM USF2 CEBPB ARHGAP31 ADPRH ARHGAP31-AS1 CD80 B4GALT4 IGSF11 RPL10P7 COX17 GC03M119342 RNU6-1127P
GH03F119321 1.4 FANTOM5 ENCODE 15.1 +28.7 28689 2.7 HDGF ATF1 ARID4B SIN3A ZNF2 ETS1 GLIS2 CBX5 ZNF143 ZNF207 ARHGAP31 ADPRH B4GALT4 COX17 CD80 ARHGAP31-AS1 GC03M119342 RNU6-1127P
GH03F119635 1.8 FANTOM5 Ensembl ENCODE 11.6 +343.8 343815 4.6 HDGF PKNOX1 ATF1 WRNIP1 SIN3A GATA2 ZNF143 FOS JUNB NCOA1 RPL10P7 ADPRH COX17 ARHGAP31 MAATS1 PLA1A GSK3B POPDC2
GH03F119626 1.5 FANTOM5 Ensembl ENCODE 11.1 +335.0 335012 6.6 PKNOX1 KLF17 YY1 GATA2 SCRT2 CREM REST ZNF518A NR2F2 PBX2 ADPRH MAATS1 RPL10P7 COX17 CD80 POPDC2 ARHGAP31 PLA1A GPR156 GSK3B
GH03F119300 1.1 FANTOM5 Ensembl ENCODE 14.6 +7.1 7112 2.0 ZFHX2 FEZF1 EGR2 ARHGAP31 ARHGAP31-AS1 ADPRH B4GALT4 PIR60663
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARHGAP31 on UCSC Golden Path with GeneCards custom track

Promoters for ARHGAP31 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001371639 911 3601 PKNOX1 WRNIP1 ZNF2 RAD21 ZBTB40 GLIS2 EGR1 ZNF366 ETV6 CREM

Genomic Location for ARHGAP31 Gene

Chromosome:
3
Start:
119,294,289 bp from pter
End:
119,420,714 bp from pter
Size:
126,426 bases
Orientation:
Plus strand

Genomic View for ARHGAP31 Gene

Genes around ARHGAP31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP31 Gene

Proteins for ARHGAP31 Gene

  • Protein details for ARHGAP31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M1Z3-RHG31_HUMAN
    Recommended name:
    Rho GTPase-activating protein 31
    Protein Accession:
    Q2M1Z3
    Secondary Accessions:
    • Q9ULL6

    Protein attributes for ARHGAP31 Gene

    Size:
    1444 amino acids
    Molecular mass:
    156985 Da
    Quaternary structure:
    • Interacts with ITSN1, which inhibits GAP activity. Interacts with PARVA (By similarity). Interacts with GTP-loaded RHOU.
    SequenceCaution:
    • Sequence=BAA86518.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for ARHGAP31 Gene

Post-translational modifications for ARHGAP31 Gene

Other Protein References for ARHGAP31 Gene

No data available for DME Specific Peptides for ARHGAP31 Gene

Domains & Families for ARHGAP31 Gene

Gene Families for ARHGAP31 Gene

Protein Domains for ARHGAP31 Gene

Suggested Antigen Peptide Sequences for ARHGAP31 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q2M1Z3

UniProtKB/Swiss-Prot:

RHG31_HUMAN :
  • Contains 1 Rho-GAP domain.
Domain:
  • Contains 1 Rho-GAP domain.
genes like me logo Genes that share domains with ARHGAP31: view

Function for ARHGAP31 Gene

Molecular function for ARHGAP31 Gene

UniProtKB/Swiss-Prot Function:
Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration.

Gene Ontology (GO) - Molecular Function for ARHGAP31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with ARHGAP31: view
genes like me logo Genes that share phenotypes with ARHGAP31: view

Human Phenotype Ontology for ARHGAP31 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP31 Gene

Localization for ARHGAP31 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP31 Gene

Cell projection, lamellipodium. Cell junction, focal adhesion.

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 ARHGAP31 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ARHGAP31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005925 focal adhesion IEA --
GO:0030027 lamellipodium IEA,IBA --
GO:0030054 cell junction IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with ARHGAP31: view

Pathways & Interactions for ARHGAP31 Gene

genes like me logo Genes that share pathways with ARHGAP31: view

Pathways by source for ARHGAP31 Gene

1 Cell Signaling Technology pathway for ARHGAP31 Gene
3 Reactome pathways for ARHGAP31 Gene
1 GeneGo (Thomson Reuters) pathway for ARHGAP31 Gene

Gene Ontology (GO) - Biological Process for ARHGAP31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IEA,IBA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with ARHGAP31: view

No data available for SIGNOR curated interactions for ARHGAP31 Gene

Transcripts for ARHGAP31 Gene

mRNA/cDNA for ARHGAP31 Gene

Unigene Clusters for ARHGAP31 Gene

Rho GTPase activating protein 31:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP31 Gene

No ASD Table

Relevant External Links for ARHGAP31 Gene

GeneLoc Exon Structure for
ARHGAP31
ECgene alternative splicing isoforms for
ARHGAP31

Expression for ARHGAP31 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP31 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP31 Gene

This gene is overexpressed in Esophagus (22.2), Pancreas (15.9), and CD8 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ARHGAP31 Gene



NURSA nuclear receptor signaling pathways regulating expression of ARHGAP31 Gene:

ARHGAP31

SOURCE GeneReport for Unigene cluster for ARHGAP31 Gene:

Hs.668218
genes like me logo Genes that share expression patterns with ARHGAP31: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ARHGAP31 Gene

Orthologs for ARHGAP31 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGAP31 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP31 34 35
  • 99.26 (n)
cow
(Bos Taurus)
Mammalia ARHGAP31 34 35
  • 87.57 (n)
dog
(Canis familiaris)
Mammalia ARHGAP31 34 35
  • 86.86 (n)
rat
(Rattus norvegicus)
Mammalia Arhgap31 34
  • 83.02 (n)
mouse
(Mus musculus)
Mammalia Arhgap31 34 16 35
  • 82.74 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGAP31 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGAP31 35
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGAP31 35
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii arhgap31 35
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CdGAPr 35
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RGD1 35
  • 18 (a)
OneToMany
Species where no ortholog for ARHGAP31 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ARHGAP31 Gene

ENSEMBL:
Gene Tree for ARHGAP31 (if available)
TreeFam:
Gene Tree for ARHGAP31 (if available)

Paralogs for ARHGAP31 Gene

Paralogs for ARHGAP31 Gene

genes like me logo Genes that share paralogs with ARHGAP31: view

Variants for ARHGAP31 Gene

Sequence variations from dbSNP and Humsavar for ARHGAP31 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs387907031 Pathogenic 119,413,976(+) CAATT(C/T)AGCCT intron-variant, reference, stop-gained
rs139659618 Likely benign 119,414,273(+) CACTC(A/C)CACCT intron-variant, reference, missense
rs374149626 Likely benign 119,414,241(+) GGAAG(C/T)AGGAG intron-variant, reference, missense
rs200233879 Uncertain significance 119,402,182(+) CTCGC(C/T)GCGTA downstream-variant-500B, reference, missense
rs760570856 Uncertain significance 119,409,674(+) AATCC(A/G)GAGAA intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP31 Gene

Variant ID Type Subtype PubMed ID
esv3597556 CNV loss 21293372
esv997290 CNV deletion 20482838
nsv1110948 OTHER inversion 24896259
nsv3962 CNV deletion 18451855
nsv822227 CNV loss 20364138
nsv829694 CNV gain 17160897

Variation tolerance for ARHGAP31 Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.23; 52.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGAP31 Gene

Human Gene Mutation Database (HGMD)
ARHGAP31
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP31 Gene

Disorders for ARHGAP31 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ARHGAP31 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
adams-oliver syndrome 1
  • aos1
adams-oliver syndrome
  • adams oliver syndrome
oliver syndrome
  • postaxial polydactyly mental retardation
aplasia cutis congenita
  • aplasia cutis congenita nonsyndromic
birth defects
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RHG31_HUMAN
  • Adams-Oliver syndrome 1 (AOS1) [MIM:100300]: A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. {ECO:0000269 PubMed:21565291}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ARHGAP31

Genetic Association Database (GAD)
ARHGAP31
Human Genome Epidemiology (HuGE) Navigator
ARHGAP31
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGAP31
genes like me logo Genes that share disorders with ARHGAP31: view

No data available for Genatlas for ARHGAP31 Gene

Publications for ARHGAP31 Gene

  1. The human orthologue of CdGAP is a phosphoprotein and a GTPase- activating protein for Cdc42 and Rac1 but not RhoA. (PMID: 16519628) Tcherkezian J. … Lamarche-Vane N. (Biol. Cell 2006) 2 3 4 22 64
  2. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. (PMID: 21565291) Southgate L. … Trembath R.C. (Am. J. Hum. Genet. 2011) 3 4 64
  3. Multiple common variants for celiac disease influencing immune gene expression. (PMID: 20190752) Dubois P.C. … van Heel D.A. (Nat. Genet. 2010) 3 46 64
  4. GC-GAP, a Rho family GTPase-activating protein that interacts with signaling adapters Gab1 and Gab2. (PMID: 12819203) Zhao C. … Feng G.S. (J. Biol. Chem. 2003) 2 3 64
  5. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 3 4 64

Products for ARHGAP31 Gene

Sources for ARHGAP31 Gene

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