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Q2M1Z3 (RHG31_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Rho GTPase-activating protein 31
Alternative name(s):
Cdc42 GTPase-activating protein
Gene names
Name:ARHGAP31
Synonyms:CDGAP, KIAA1204
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1444 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration. Ref.4 Ref.5

Subunit structure

Interacts with ITSN1, which inhibits GAP activity. Interacts with PARVA By similarity. Interacts with GTP-loaded RHOU. Ref.7

Subcellular location

Cell projectionlamellipodium. Cell junctionfocal adhesion By similarity.

Developmental stage

Mainly expressed in fetal heart and muscle.

Post-translational modification

Phosphorylation on Thr-789 reduces GAP activity By similarity.

Involvement in disease

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. Ref.6

Sequence similarities

Contains 1 Rho-GAP domain.

Sequence caution

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

Ontologies

Keywords
   Cellular componentCell junction
Cell projection
   Coding sequence diversityPolymorphism
   Molecular functionGTPase activation
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

   Cellular_componentcytosol

Traceable author statement. Source: Reactome

focal adhesion

Inferred from electronic annotation. Source: UniProtKB-SubCell

lamellipodium

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionGTPase activator activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14441444Rho GTPase-activating protein 31
PRO_0000320114

Regions

Domain21 – 216196Rho-GAP
Compositional bias673 – 790118Pro-rich
Compositional bias971 – 9744Poly-Ser

Amino acid modifications

Modified residue3461Phosphoserine By similarity
Modified residue7891Phosphothreonine By similarity

Natural variations

Natural variant2211P → L.
Corresponds to variant rs751793 [ dbSNP | Ensembl ].
VAR_039122
Natural variant7271T → I. Ref.6
VAR_065919
Natural variant8031G → S. Ref.1 Ref.3
Corresponds to variant rs3732413 [ dbSNP | Ensembl ].
VAR_039123
Natural variant11151I → L.
Corresponds to variant rs12107254 [ dbSNP | Ensembl ].
VAR_039124
Natural variant13661V → M.
Corresponds to variant rs3796360 [ dbSNP | Ensembl ].
VAR_039125
Natural variant13801T → I.
Corresponds to variant rs9852894 [ dbSNP | Ensembl ].
VAR_039126

Sequences

Sequence LengthMass (Da)Tools
Q2M1Z3 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: B1AF26D24506BF11

FASTA1,444156,985
        10         20         30         40         50         60 
MKNKGAKQKL KRKGAASAFG CDLTEYLESS GQDVPYVLKS CAEFIETHGI VDGIYRLSGV 

        70         80         90        100        110        120 
TSNIQRLRQE FGSDQCPDLT REVYLQDIHC VGSLCKLYFR ELPNPLLTYE LYEKFTEAVS 

       130        140        150        160        170        180 
HCPEEGQLAR IQNVIQELPP SHYRTLEYLI RHLAHIASFS SKTNMHARNL ALVWAPNLLR 

       190        200        210        220        230        240 
SKEIEATGCN GDAAFLAVRV QQVVIEFILN HVDQIFNNGA PGSLENDENR PIMKSLTLPA 

       250        260        270        280        290        300 
LSLPMKLVSL EEAQARSLAT NHPARKERRE NSLPEIVPPM GTLFHTVLEL PDNKRKLSSK 

       310        320        330        340        350        360 
SKKWKSIFNL GRSGSDSKSK LSRNGSVFVR GQRLSVEKAT IRPAKSMDSL CSVPVEGKET 

       370        380        390        400        410        420 
KGNFNRTVTT GGFFIPATKM HSTGTGSSCD LTKQEGEWGQ EGMPPGAEGG FDVSSDRSHL 

       430        440        450        460        470        480 
QGAQARPPPE QLKVFRPVED PESEQTAPKM LGMFYTSNDS PSKSVFTSSL FQMEPSPRNQ 

       490        500        510        520        530        540 
RKALNISEPF AVSVPLRVSA VISTNSTPCR TPPKELQSLS SLEEFSFHGS ESGGWPEEEK 

       550        560        570        580        590        600 
PLGAETSAAS VPKKAGLEDA KAVPEAPGTV ECSKGLSQEP GAHLEEKKTP ESSLSSQHLN 

       610        620        630        640        650        660 
ELEKRPNPEK VVEEGREAGE MESSTLQESP RARAEAVLLH EMDEDDLANA LIWPEIQQEL 

       670        680        690        700        710        720 
KIIESEEELS SLPPPALKTS PIQPILESSL GPFIPSEPPG SLPCGSFPAP VSTPLEVWTR 

       730        740        750        760        770        780 
DPANQSTQGA STAASREKPE PEQGLHPDLA SLAPLEIVPF EKASPQATVE VGGPGNLSPP 

       790        800        810        820        830        840 
LPPAPPPPTP LEESTPVLLS KGGPEREDSS RKLRTDLYID QLKSQDSPEI SSLCQGEEAT 

       850        860        870        880        890        900 
PRHSDKQNSK NAASEGKGCG FPSPTREVEI VSQEEEDVTH SVQEPSDCDE DDTVTDIAQH 

       910        920        930        940        950        960 
GLEMVEPWEE PQWVTSPLHS PTLKDAHKAQ VQGLQGHQLE KRLSHRPSLR QSHSLDSKPT 

       970        980        990       1000       1010       1020 
VKSQWTLEVP SSSSCANLET ERNSDPLQPQ APRREITGWD EKALRSFREF SGLKGAEAPP 

      1030       1040       1050       1060       1070       1080 
NQKGPSGVQP NPAETSPISL AEGKELGTHL GHSSPQIRQG GVPGPESSKE SSPSVQDSTS 

      1090       1100       1110       1120       1130       1140 
PGEHPAKLQL KSTECGPPKG KNRPSSLNLD PAIPIADLFW FENVASFSSP GMQVSEPGDP 

      1150       1160       1170       1180       1190       1200 
KVTWMTSSYC KADPWRVYSQ DPQDLDIVAH ALTGRRNSAP VSVSAVRTSF MVKMCQARAV 

      1210       1220       1230       1240       1250       1260 
PVIPPKIQYT QIPQPLPSQS SGENGVQPLE RSQEGPSSTS GTTQKPAKDD SPSSLESSKE 

      1270       1280       1290       1300       1310       1320 
EKPKQDPGAI KSSPVDATAP CMCEGPTLSP EPGSSNLLST QDAVVQCRKR MSETEPSGDN 

      1330       1340       1350       1360       1370       1380 
LLSSKLERPS GGSKPFHRSR PGRPQSLILF SPPFPIMDHL PPSSTVTDSK VLLSPIRSPT 

      1390       1400       1410       1420       1430       1440 
QTVSPGLLCG ELAENTWVTP EGVTLRNKMT IPKNGQRLET STSCFYQPQR RSVILDGRSG 


RQIE 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies."
Southgate L., Machado R.D., Snape K.M., Primeau M., Dafou D., Ruddy D.M., Branney P.A., Fisher M., Lee G.J., Simpson M.A., He Y., Bradshaw T.Y., Blaumeiser B., Winship W.S., Reardon W., Maher E.R., FitzPatrick D.R., Wuyts W. expand/collapse author list , Zenker M., Lamarche-Vane N., Trembath R.C.
Am. J. Hum. Genet. 88:574-585(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB033030 mRNA. Translation: BAA86518.1. Different initiation.
AC092981 Genomic DNA. No translation available.
BC112163 mRNA. Translation: AAI12164.1.
BC112165 mRNA. Translation: AAI12166.1.
CCDSCCDS43135.1.
PIRA59437.
RefSeqNP_065805.2. NM_020754.3.
UniGeneHs.668218.

3D structure databases

ProteinModelPortalQ2M1Z3.
SMRQ2M1Z3. Positions 19-217.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121578. 2 interactions.
IntActQ2M1Z3. 3 interactions.
MINTMINT-7302503.

PTM databases

PhosphoSiteQ2M1Z3.

Polymorphism databases

DMDM296452881.

Proteomic databases

MaxQBQ2M1Z3.
PaxDbQ2M1Z3.
PRIDEQ2M1Z3.

Protocols and materials databases

DNASU57514.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264245; ENSP00000264245; ENSG00000031081.
GeneID57514.
KEGGhsa:57514.
UCSCuc003ecj.4. human.

Organism-specific databases

CTD57514.
GeneCardsGC03P119013.
H-InvDBHIX0003583.
HGNCHGNC:29216. ARHGAP31.
HPAHPA036380.
MIM100300. phenotype.
610911. gene.
neXtProtNX_Q2M1Z3.
Orphanet974. Adams-Oliver syndrome.
PharmGKBPA165696843.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG283916.
HOGENOMHOG000060178.
HOVERGENHBG105825.
InParanoidQ2M1Z3.
OMANTWVTPE.
OrthoDBEOG7WMCHV.
PhylomeDBQ2M1Z3.
TreeFamTF351451.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressQ2M1Z3.
BgeeQ2M1Z3.
GenevestigatorQ2M1Z3.

Family and domain databases

Gene3D1.10.555.10. 1 hit.
InterProIPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
[Graphical view]
PfamPF00620. RhoGAP. 1 hit.
[Graphical view]
SMARTSM00324. RhoGAP. 1 hit.
[Graphical view]
SUPFAMSSF48350. SSF48350. 1 hit.
PROSITEPS50238. RHOGAP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSARHGAP31. human.
GeneWikiARHGAP31.
GenomeRNAi57514.
NextBio63882.
PROQ2M1Z3.
SOURCESearch...

Entry information

Entry nameRHG31_HUMAN
AccessionPrimary (citable) accession number: Q2M1Z3
Secondary accession number(s): Q9ULL6
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 77 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM