ARHGAP31 Gene
protein-coding GIFtS: 56
GCID: GC03P119013
|
|
Rho GTPase activating protein 31
| |
Aliases
for ARHGAP31 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Rho GTPase Activating Protein 311 2 | | CDGAP1 2 3 5 | | Cdc42 GTPase-Activating Protein2 3 | | KIAA12043 5 | | AOS12 | | Rho GTPase-Activating Protein 312 |
Export aliases for ARHGAP31 gene to outside databasesPrevious GC identifer: GC03P116388 |
Summaries
for ARHGAP31 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ARHGAP31:
This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases whichcycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and activeforms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate twoGTPases involved in protein trafficking and cell growth. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: RHG31_HUMAN, Q2M1Z3Function: Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarizedlamellipodia formation and cell migration
Gene Wiki entry for ARHGAP31
|
Genomic Views
for ARHGAP31 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for ARHGAP31
Other transcription factors
Search SABiosciences Chromatin IP Primers for ARHGAP31
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARHGAP31 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q13.33 Ensembl cytogenetic band: 3q13.33 HGNC cytogenetic band: 3q13.33ARHGAP31 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P119013: view genomic region
(about GC identifiers)
Start:
|
119,013,220 bp from pter |
End:
|
119,139,561 bp from pter |
Size:
|
126,342 bases |
Orientation:
|
plus strand |
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Proteins
for ARHGAP31 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: RHG31_HUMAN, Q2M1Z3 (See
protein sequence)Recommended Name: Rho GTPase-activating protein 31 Size: 1444 amino acids; 156985 Da
Subunit: Interacts with ITSN1, which inhibits GAP activity. Interacts with PARVA (By similarity). Interacts withGTP-loaded RHOU
Subcellular location: Cell projection, lamellipodium. Cell junction, focal adhesion (By similarity)
Developmental stage: Mainly expressed in fetal heart and muscle
Sequence caution: Sequence=BAA86518.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q9ULL6Explore the universe of human proteins at neXtProt for ARHGAP31: NX_Q2M1Z3
Post-translational modifications:
Phosphorylation on Thr-789 reduces GAP activity (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q2M1Z3
ARHGAP31 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065805.2
ENSEMBL proteins: ENSP00000264245 ENSP00000418429 Reactome Protein details: Q2M1Z3
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
ARHGAP31 for ontologies About GeneDecksing
ARHGAP31 Antibody Products:
Assay Products for ARHGAP31: |
Protein
Domains /
Families
for ARHGAP31 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ARHGAP31 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q2M1Z3ProtoNet protein and cluster: Q2M1Z3 1 Blocks protein family: IPB000198 RhoGAP domain
UniProtKB/Swiss-Prot: RHG31_HUMAN, Q2M1Z3Similarity: Contains 1 Rho-GAP domain |
Function
for ARHGAP31 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RHG31_HUMAN, Q2M1Z3Function: Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarizedlamellipodia formation and cell migration
Clone
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGAP31 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
ARHGAP31 for ontologies About GeneDecksing
|
Pathways & Interactions
for ARHGAP31 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | G-protein signaling Regulation of RAC1 activity | | | 2 | Cell death signalling via NRAGE, NRIF and NADE | | | 3 | Cytoskeletal Signaling | | | 4 | Signaling by GPCR | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for ARHGAP31
1 
Cell Signaling Technology (CST) Pathway for ARHGAP31
1  GeneGo (Thomson Reuters) Pathway for ARHGAP31
3 
Reactome Pathways for ARHGAP31
ARHGAP31 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARHGAP31
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/40 Interacting proteins for ARHGAP31 (Q2M1Z32, 3 ENSP000002642454) via UniProtKB, MINT, STRING, and/or I2D (see all 40)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007165 | signal transduction |
-- | -- | | GO:0007264 | small GTPase mediated signal transduction |
TAS | -- | | GO:0043547 | positive regulation of GTPase activity |
-- | -- | | GO:0051056 | regulation of small GTPase mediated signal transduction |
TAS | -- |
ARHGAP31 for ontologies About GeneDecksing
|
Drugs & Compounds
for ARHGAP31 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ARHGAP31
Search CenterWatch for drugs/clinical trials and news about ARHGAP31 / RHG31
|
Transcripts
for ARHGAP31 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ARHGAP31 gene: NM_020754.2 Unigene Cluster for ARHGAP31: Rho GTPase activating protein 31 Hs.668218 [show with all ESTs]Unigene Representative Sequence: NM_0207542 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000264245(uc003ecj.4) ENST00000482743
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARHGAP31 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARHGAP31 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ARHGAP31 (NM_020754) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ARHGAP31 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARHGAP31 |
Additional cDNA sequence: AB033030.1 AK026689.1 BC112163.1 BC112165.1 2 DOTS entries: DT.112150 DT.120859534 24/90 AceView cDNA sequences (see all 90): AA425616 BX952664 AA458627 AA933880 CA437092 AA743273 AA296608 BM708381 BU732138 AB033030 AW954242 CD105527 CA306428 BU676954 AW305166 AK026689 AW874018 AW262783 BI907556 BQ008349 BQ181407 BQ018922 H24948 AL603530
GeneLoc Exon Structure
|
Expression
for ARHGAP31 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ARHGAP31 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCTTTCCCT
About this image
See ARHGAP31 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ARHGAP31
SOURCE GeneReport for Unigene cluster: Hs.668218
SABiosciences Custom PCR Arrays for ARHGAP31
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARHGAP31
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARHGAP31 |
Orthologs
for ARHGAP31 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for ARHGAP31 gene from 5/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ARHGAP311 |
Rho GTPase activating protein 31 |
60.42(n)
56.92(a) |
|
418344 XM_416566.2 XP_416566.2 |
lizard
(Anolis carolinensis) |
Reptilia |
ARHGAP316 |
-- |
42(a) |
1 ↔ 1 |
3(180926263-180955378) |
zebrafish
(Danio rerio) |
Actinopterygii |
arhgap316 |
Rho GTPase activating protein 31 |
33(a) |
1 ↔ 1 |
5(70667694-70717855) |
fruit fly
(Drosophila melanogaster) |
Insecta |
CdGAPr6 |
CdGAPr |
10(a) |
1 → many |
2L(19774873-19791882) |
worm
(Caenorhabditis elegans) |
Secernentea |
rga-56rrc-16 |
GTPase-activating protein rrc-1 |
3(a)10(a) |
possible ortholog1 ↔ many |
IV(13827861-13844953) X(9823702-9831191) |
ENSEMBL Gene Tree for ARHGAP31 (if available)
TreeFam Gene Tree for ARHGAP31 (if available) |
Paralogs
for ARHGAP31 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ARHGAP31 gene
- ARHGAP302 RALBP12 ARHGAP322 ARHGAP332
18/22 SIMAP similar genes for ARHGAP31 using alignment to 2 protein entries: RHG31_HUMAN (see all proteins)
(see all similar genes):ARHGAP33 RICS ARHGAP12 ARHGAP42 CHN2-3 OPHN1
CHN1 CHN2 MYO9A ARHGAP10 ARHGAP24 ARHGAP44
SH3BP1 ABR ARHGAP27 FAM13A HMHA1 DLC1
ARHGAP31 for paralogs About GeneDecksing
|
Genomic Variants
for ARHGAP31 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ARHGAP31 (119013220 - 119139561 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ARHGAP31: --
Human Gene Mutation Database (HGMD): ARHGAP31
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARHGAP31 |
|
Disorders
/ Diseases
for ARHGAP31 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ARHGAP31 for disorders About GeneDecksing
OMIM gene information: 610911
OMIM disorders: --
UniProtKB/Swiss-Prot: RHG31_HUMAN, Q2M1Z3
Defects in ARHGAP31 are the cause of Adams-Oliver syndrome type 1 (AOS1) [MIM:100300]. A disordercharacterized 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 onthe posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limbabnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (trueectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart fromtransverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinicalfeatures are highly variable and can also include cardiovascular malformations, brain abnormalities and vasculardefects such as cutis marmorata and dilated scalp veins
10  diseases for ARHGAP31: About MalaCardsadams oliver syndrome aplasia cutis congenita oliver syndrome birth defects
ectrodactyly aortic atherosclerosis syndactyly celiac disease
atherosclerosis neuronitis
1 disease from the University of Copenhagen DISEASES database for ARHGAP31:Aortic atherosclerosis Human Genome Epidemiology (HuGE) Navigator: ARHGAP31 (0 documents)
Export disorders for ARHGAP31 gene to outside databases
|
Publications
for ARHGAP31 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ARHGAP31 gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with ARHGAP31) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The human orthologue of CdGAP is a phosphoprotein and a GTPase- activating protein for Cdc42 and Rac1 but not RhoA. (PubMed id 16519628)1, 2, 3, 9 Tcherkezian J.... Lamarche-Vane N. (2006)
- Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. (PubMed id 21565291)1, 2 Southgate L....Trembath R.C. (2011)
- GC-GAP, a Rho family GTPase-activating protein that interacts with signaling adapters Gab1 and Gab2. (PubMed id 12819203)1, 3 Zhao C.... Feng G.S. (2003)
- 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. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
- CdGAP, a novel proline-rich GTPase-activating protein for Cdc42 and Rac. (PubMed id 9786927)1, 3 Lamarche-Vane N. and Hall A. (1998)
- CdGAP regulates cell migration and adhesion dynamics i n two-and three-dimensional matrix environments. (PubMed id 22907917)1 Wormer D....Turner C.E. (2012)
- A stretch of polybasic residues mediates Cdc42 GTPase- activating protein (CdGAP) binding to phosphatidylinositol 3,4,5-trisphosphate a nd regulates its GAP activity. (PubMed id 22518840)1 Karimzadeh F....Lamarche-Vane N. (2012)
- ARHGAP30 is a Wrch-1-interacting protein involved in actin dynamics and cell adhesion. (PubMed id 21565175)2 Naji L.... Aspenstrom P. (2011)
- Genetic cause of rare disease may be involved in more common birth defects. (PubMed id 21774070)1 (2011)
- Multiple common variants for celiac disease influenci ng immune gene expression. (PubMed id 20190752)1 Dubois P.C....van Heel D.A. (2010)
|
External Searches for ARHGAP31 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ARHGAP31 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ARHGAP31 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing ARHGAP31 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ARHGAP31 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ARHGAP31 gene:
Search GeneIP for patents involving ARHGAP31
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ARHGAP31 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |
 |  |  |  | |
| | Antibodies & Assays for ARHGAP31 (CdGAP) |
| | | |  |  |  |  | | | | |
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 |
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