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Q2M1Z3

- RHG31_HUMAN

UniProt

Q2M1Z3 - RHG31_HUMAN

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Protein

Rho GTPase-activating protein 31

Gene
ARHGAP31, CDGAP, KIAA1204
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration.2 Publications

GO - Molecular functioni

  1. GTPase activator activity Source: UniProtKB-KW

GO - Biological processi

  1. regulation of small GTPase mediated signal transduction Source: Reactome
  2. small GTPase mediated signal transduction Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

ReactomeiREACT_11051. Rho GTPase cycle.

Names & Taxonomyi

Protein namesi
Recommended name:
Rho GTPase-activating protein 31
Alternative name(s):
Cdc42 GTPase-activating protein
Gene namesi
Synonyms:CDGAP, KIAA1204
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:29216. ARHGAP31.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. focal adhesion Source: UniProtKB-SubCell
  3. lamellipodium Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Organism-specific databases

MIMi100300. phenotype.
Orphaneti974. Adams-Oliver syndrome.
PharmGKBiPA165696843.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14441444Rho GTPase-activating protein 31PRO_0000320114Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei346 – 3461Phosphoserine By similarity
Modified residuei789 – 7891Phosphothreonine By similarity

Post-translational modificationi

Phosphorylation on Thr-789 reduces GAP activity By similarity.

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ2M1Z3.
PaxDbiQ2M1Z3.
PRIDEiQ2M1Z3.

PTM databases

PhosphoSiteiQ2M1Z3.

Expressioni

Developmental stagei

Mainly expressed in fetal heart and muscle.

Gene expression databases

ArrayExpressiQ2M1Z3.
BgeeiQ2M1Z3.
GenevestigatoriQ2M1Z3.

Organism-specific databases

HPAiHPA036380.

Interactioni

Subunit structurei

Interacts with ITSN1, which inhibits GAP activity. Interacts with PARVA By similarity. Interacts with GTP-loaded RHOU.1 Publication

Protein-protein interaction databases

BioGridi121578. 2 interactions.
IntActiQ2M1Z3. 3 interactions.
MINTiMINT-7302503.

Structurei

3D structure databases

ProteinModelPortaliQ2M1Z3.
SMRiQ2M1Z3. Positions 19-217.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini21 – 216196Rho-GAPAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi673 – 790118Pro-richAdd
BLAST
Compositional biasi971 – 9744Poly-Ser

Sequence similaritiesi

Contains 1 Rho-GAP domain.

Phylogenomic databases

eggNOGiNOG283916.
HOGENOMiHOG000060178.
HOVERGENiHBG105825.
InParanoidiQ2M1Z3.
OMAiNTWVTPE.
OrthoDBiEOG7WMCHV.
PhylomeDBiQ2M1Z3.
TreeFamiTF351451.

Family and domain databases

Gene3Di1.10.555.10. 1 hit.
InterProiIPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
[Graphical view]
PfamiPF00620. RhoGAP. 1 hit.
[Graphical view]
SMARTiSM00324. RhoGAP. 1 hit.
[Graphical view]
SUPFAMiSSF48350. SSF48350. 1 hit.
PROSITEiPS50238. RHOGAP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q2M1Z3-1 [UniParc]FASTAAdd to Basket

« Hide

MKNKGAKQKL KRKGAASAFG CDLTEYLESS GQDVPYVLKS CAEFIETHGI     50
VDGIYRLSGV TSNIQRLRQE FGSDQCPDLT REVYLQDIHC VGSLCKLYFR 100
ELPNPLLTYE LYEKFTEAVS HCPEEGQLAR IQNVIQELPP SHYRTLEYLI 150
RHLAHIASFS SKTNMHARNL ALVWAPNLLR SKEIEATGCN GDAAFLAVRV 200
QQVVIEFILN HVDQIFNNGA PGSLENDENR PIMKSLTLPA LSLPMKLVSL 250
EEAQARSLAT NHPARKERRE NSLPEIVPPM GTLFHTVLEL PDNKRKLSSK 300
SKKWKSIFNL GRSGSDSKSK LSRNGSVFVR GQRLSVEKAT IRPAKSMDSL 350
CSVPVEGKET KGNFNRTVTT GGFFIPATKM HSTGTGSSCD LTKQEGEWGQ 400
EGMPPGAEGG FDVSSDRSHL QGAQARPPPE QLKVFRPVED PESEQTAPKM 450
LGMFYTSNDS PSKSVFTSSL FQMEPSPRNQ RKALNISEPF AVSVPLRVSA 500
VISTNSTPCR TPPKELQSLS SLEEFSFHGS ESGGWPEEEK PLGAETSAAS 550
VPKKAGLEDA KAVPEAPGTV ECSKGLSQEP GAHLEEKKTP ESSLSSQHLN 600
ELEKRPNPEK VVEEGREAGE MESSTLQESP RARAEAVLLH EMDEDDLANA 650
LIWPEIQQEL KIIESEEELS SLPPPALKTS PIQPILESSL GPFIPSEPPG 700
SLPCGSFPAP VSTPLEVWTR DPANQSTQGA STAASREKPE PEQGLHPDLA 750
SLAPLEIVPF EKASPQATVE VGGPGNLSPP LPPAPPPPTP LEESTPVLLS 800
KGGPEREDSS RKLRTDLYID QLKSQDSPEI SSLCQGEEAT PRHSDKQNSK 850
NAASEGKGCG FPSPTREVEI VSQEEEDVTH SVQEPSDCDE DDTVTDIAQH 900
GLEMVEPWEE PQWVTSPLHS PTLKDAHKAQ VQGLQGHQLE KRLSHRPSLR 950
QSHSLDSKPT VKSQWTLEVP SSSSCANLET ERNSDPLQPQ APRREITGWD 1000
EKALRSFREF SGLKGAEAPP NQKGPSGVQP NPAETSPISL AEGKELGTHL 1050
GHSSPQIRQG GVPGPESSKE SSPSVQDSTS PGEHPAKLQL KSTECGPPKG 1100
KNRPSSLNLD PAIPIADLFW FENVASFSSP GMQVSEPGDP KVTWMTSSYC 1150
KADPWRVYSQ DPQDLDIVAH ALTGRRNSAP VSVSAVRTSF MVKMCQARAV 1200
PVIPPKIQYT QIPQPLPSQS SGENGVQPLE RSQEGPSSTS GTTQKPAKDD 1250
SPSSLESSKE EKPKQDPGAI KSSPVDATAP CMCEGPTLSP EPGSSNLLST 1300
QDAVVQCRKR MSETEPSGDN LLSSKLERPS GGSKPFHRSR PGRPQSLILF 1350
SPPFPIMDHL PPSSTVTDSK VLLSPIRSPT QTVSPGLLCG ELAENTWVTP 1400
EGVTLRNKMT IPKNGQRLET STSCFYQPQR RSVILDGRSG RQIE 1444
Length:1,444
Mass (Da):156,985
Last modified:May 18, 2010 - v2
Checksum:iB1AF26D24506BF11
GO

Sequence cautioni

The sequence BAA86518.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti221 – 2211P → L.
Corresponds to variant rs751793 [ dbSNP | Ensembl ].
VAR_039122
Natural varianti727 – 7271T → I.1 Publication
VAR_065919
Natural varianti803 – 8031G → S.2 Publications
Corresponds to variant rs3732413 [ dbSNP | Ensembl ].
VAR_039123
Natural varianti1115 – 11151I → L.
Corresponds to variant rs12107254 [ dbSNP | Ensembl ].
VAR_039124
Natural varianti1366 – 13661V → M.
Corresponds to variant rs3796360 [ dbSNP | Ensembl ].
VAR_039125
Natural varianti1380 – 13801T → I.
Corresponds to variant rs9852894 [ dbSNP | Ensembl ].
VAR_039126

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB033030 mRNA. Translation: BAA86518.1. Different initiation.
AC092981 Genomic DNA. No translation available.
BC112163 mRNA. Translation: AAI12164.1.
BC112165 mRNA. Translation: AAI12166.1.
CCDSiCCDS43135.1.
PIRiA59437.
RefSeqiNP_065805.2. NM_020754.3.
UniGeneiHs.668218.

Genome annotation databases

EnsembliENST00000264245; ENSP00000264245; ENSG00000031081.
GeneIDi57514.
KEGGihsa:57514.
UCSCiuc003ecj.4. human.

Polymorphism databases

DMDMi296452881.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB033030 mRNA. Translation: BAA86518.1 . Different initiation.
AC092981 Genomic DNA. No translation available.
BC112163 mRNA. Translation: AAI12164.1 .
BC112165 mRNA. Translation: AAI12166.1 .
CCDSi CCDS43135.1.
PIRi A59437.
RefSeqi NP_065805.2. NM_020754.3.
UniGenei Hs.668218.

3D structure databases

ProteinModelPortali Q2M1Z3.
SMRi Q2M1Z3. Positions 19-217.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121578. 2 interactions.
IntActi Q2M1Z3. 3 interactions.
MINTi MINT-7302503.

PTM databases

PhosphoSitei Q2M1Z3.

Polymorphism databases

DMDMi 296452881.

Proteomic databases

MaxQBi Q2M1Z3.
PaxDbi Q2M1Z3.
PRIDEi Q2M1Z3.

Protocols and materials databases

DNASUi 57514.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264245 ; ENSP00000264245 ; ENSG00000031081 .
GeneIDi 57514.
KEGGi hsa:57514.
UCSCi uc003ecj.4. human.

Organism-specific databases

CTDi 57514.
GeneCardsi GC03P119013.
H-InvDB HIX0003583.
HGNCi HGNC:29216. ARHGAP31.
HPAi HPA036380.
MIMi 100300. phenotype.
610911. gene.
neXtProti NX_Q2M1Z3.
Orphaneti 974. Adams-Oliver syndrome.
PharmGKBi PA165696843.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG283916.
HOGENOMi HOG000060178.
HOVERGENi HBG105825.
InParanoidi Q2M1Z3.
OMAi NTWVTPE.
OrthoDBi EOG7WMCHV.
PhylomeDBi Q2M1Z3.
TreeFami TF351451.

Enzyme and pathway databases

Reactomei REACT_11051. Rho GTPase cycle.

Miscellaneous databases

ChiTaRSi ARHGAP31. human.
GeneWikii ARHGAP31.
GenomeRNAii 57514.
NextBioi 63882.
PROi Q2M1Z3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q2M1Z3.
Bgeei Q2M1Z3.
Genevestigatori Q2M1Z3.

Family and domain databases

Gene3Di 1.10.555.10. 1 hit.
InterProi IPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
[Graphical view ]
Pfami PF00620. RhoGAP. 1 hit.
[Graphical view ]
SMARTi SM00324. RhoGAP. 1 hit.
[Graphical view ]
SUPFAMi SSF48350. SSF48350. 1 hit.
PROSITEi PS50238. RHOGAP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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."
    Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.
    DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-803.
    Tissue: Brain.
  2. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-803.
    Tissue: Brain.
  4. "Activation of rac and cdc42 video imaged by fluorescent resonance energy transfer-based single-molecule probes in the membrane of living cells."
    Itoh R.E., Kurokawa K., Ohba Y., Yoshizaki H., Mochizuki N., Matsuda M.
    Mol. Cell. Biol. 22:6582-6591(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  5. "The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA."
    Tcherkezian J., Triki I., Stenne R., Danek E.I., Lamarche-Vane N.
    Biol. Cell 98:445-456(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION, TISSUE SPECIFICITY, PHOSPHORYLATION, FUNCTION.
  6. Cited for: INVOLVEMENT IN AOS1, VARIANT ILE-727.
  7. "ARHGAP30 is a Wrch-1-interacting protein involved in actin dynamics and cell adhesion."
    Naji L., Pacholsky D., Aspenstrom P.
    Biochem. Biophys. Res. Commun. 409:96-102(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RHOU.

Entry informationi

Entry nameiRHG31_HUMAN
AccessioniPrimary (citable) accession number: Q2M1Z3
Secondary accession number(s): Q9ULL6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: September 3, 2014
This is version 78 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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