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Protein

Rho GTPase-activating protein 31

Gene

ARHGAP31

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

ReactomeiR-HSA-194840. Rho GTPase cycle.

Names & Taxonomyi

Protein namesi
Recommended name:
Rho GTPase-activating protein 31
Alternative name(s):
Cdc42 GTPase-activating protein
Gene namesi
Name:ARHGAP31
Synonyms:CDGAP, KIAA1204
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:29216. ARHGAP31.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection

Pathology & Biotechi

Involvement in diseasei

Adams-Oliver syndrome 1 (AOS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:100300

Organism-specific databases

DisGeNETi57514.
MalaCardsiARHGAP31.
MIMi100300. phenotype.
OpenTargetsiENSG00000031081.
Orphaneti974. Adams-Oliver syndrome.
PharmGKBiPA165696843.

Polymorphism and mutation databases

BioMutaiARHGAP31.
DMDMi296452881.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003201141 – 1444Rho GTPase-activating protein 31Add BLAST1444

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei272PhosphoserineBy similarity1
Modified residuei286PhosphothreonineBy similarity1
Modified residuei346PhosphoserineBy similarity1
Modified residuei349PhosphoserineBy similarity1
Modified residuei387PhosphoserineBy similarity1
Modified residuei476PhosphoserineBy similarity1
Modified residuei679PhosphothreonineBy similarity1
Modified residuei701PhosphoserineBy similarity1
Modified residuei712PhosphoserineBy similarity1
Modified residuei778PhosphoserineBy similarity1
Modified residuei789PhosphothreonineBy similarity1
Modified residuei974PhosphoserineBy similarity1
Modified residuei1105PhosphoserineBy similarity1
Modified residuei1106PhosphoserineBy similarity1
Modified residuei1178PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylation on Thr-789 reduces GAP activity.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ2M1Z3.
MaxQBiQ2M1Z3.
PaxDbiQ2M1Z3.
PeptideAtlasiQ2M1Z3.
PRIDEiQ2M1Z3.

PTM databases

iPTMnetiQ2M1Z3.
PhosphoSitePlusiQ2M1Z3.

Expressioni

Developmental stagei

Mainly expressed in fetal heart and muscle.

Gene expression databases

BgeeiENSG00000031081.
ExpressionAtlasiQ2M1Z3. baseline and differential.
GenevisibleiQ2M1Z3. HS.

Organism-specific databases

HPAiHPA036380.

Interactioni

Subunit structurei

Interacts with ITSN1, which inhibits GAP activity. Interacts with PARVA (By similarity). Interacts with GTP-loaded RHOU.By similarity1 Publication

Protein-protein interaction databases

BioGridi121578. 2 interactors.
IntActiQ2M1Z3. 3 interactors.
MINTiMINT-7302503.
STRINGi9606.ENSP00000264245.

Structurei

3D structure databases

ProteinModelPortaliQ2M1Z3.
SMRiQ2M1Z3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini21 – 216Rho-GAPPROSITE-ProRule annotationAdd BLAST196

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi673 – 790Pro-richAdd BLAST118
Compositional biasi971 – 974Poly-Ser4

Sequence similaritiesi

Contains 1 Rho-GAP domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IPFT. Eukaryota.
ENOG410ZIYP. LUCA.
GeneTreeiENSGT00840000129752.
HOGENOMiHOG000060178.
HOVERGENiHBG105825.
InParanoidiQ2M1Z3.
KOiK20646.
OMAiNTWVTPE.
OrthoDBiEOG091G02IN.
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

        10         20         30         40         50
MKNKGAKQKL KRKGAASAFG CDLTEYLESS GQDVPYVLKS CAEFIETHGI
60 70 80 90 100
VDGIYRLSGV TSNIQRLRQE FGSDQCPDLT REVYLQDIHC VGSLCKLYFR
110 120 130 140 150
ELPNPLLTYE LYEKFTEAVS HCPEEGQLAR IQNVIQELPP SHYRTLEYLI
160 170 180 190 200
RHLAHIASFS SKTNMHARNL ALVWAPNLLR SKEIEATGCN GDAAFLAVRV
210 220 230 240 250
QQVVIEFILN HVDQIFNNGA PGSLENDENR PIMKSLTLPA LSLPMKLVSL
260 270 280 290 300
EEAQARSLAT NHPARKERRE NSLPEIVPPM GTLFHTVLEL PDNKRKLSSK
310 320 330 340 350
SKKWKSIFNL GRSGSDSKSK LSRNGSVFVR GQRLSVEKAT IRPAKSMDSL
360 370 380 390 400
CSVPVEGKET KGNFNRTVTT GGFFIPATKM HSTGTGSSCD LTKQEGEWGQ
410 420 430 440 450
EGMPPGAEGG FDVSSDRSHL QGAQARPPPE QLKVFRPVED PESEQTAPKM
460 470 480 490 500
LGMFYTSNDS PSKSVFTSSL FQMEPSPRNQ RKALNISEPF AVSVPLRVSA
510 520 530 540 550
VISTNSTPCR TPPKELQSLS SLEEFSFHGS ESGGWPEEEK PLGAETSAAS
560 570 580 590 600
VPKKAGLEDA KAVPEAPGTV ECSKGLSQEP GAHLEEKKTP ESSLSSQHLN
610 620 630 640 650
ELEKRPNPEK VVEEGREAGE MESSTLQESP RARAEAVLLH EMDEDDLANA
660 670 680 690 700
LIWPEIQQEL KIIESEEELS SLPPPALKTS PIQPILESSL GPFIPSEPPG
710 720 730 740 750
SLPCGSFPAP VSTPLEVWTR DPANQSTQGA STAASREKPE PEQGLHPDLA
760 770 780 790 800
SLAPLEIVPF EKASPQATVE VGGPGNLSPP LPPAPPPPTP LEESTPVLLS
810 820 830 840 850
KGGPEREDSS RKLRTDLYID QLKSQDSPEI SSLCQGEEAT PRHSDKQNSK
860 870 880 890 900
NAASEGKGCG FPSPTREVEI VSQEEEDVTH SVQEPSDCDE DDTVTDIAQH
910 920 930 940 950
GLEMVEPWEE PQWVTSPLHS PTLKDAHKAQ VQGLQGHQLE KRLSHRPSLR
960 970 980 990 1000
QSHSLDSKPT VKSQWTLEVP SSSSCANLET ERNSDPLQPQ APRREITGWD
1010 1020 1030 1040 1050
EKALRSFREF SGLKGAEAPP NQKGPSGVQP NPAETSPISL AEGKELGTHL
1060 1070 1080 1090 1100
GHSSPQIRQG GVPGPESSKE SSPSVQDSTS PGEHPAKLQL KSTECGPPKG
1110 1120 1130 1140 1150
KNRPSSLNLD PAIPIADLFW FENVASFSSP GMQVSEPGDP KVTWMTSSYC
1160 1170 1180 1190 1200
KADPWRVYSQ DPQDLDIVAH ALTGRRNSAP VSVSAVRTSF MVKMCQARAV
1210 1220 1230 1240 1250
PVIPPKIQYT QIPQPLPSQS SGENGVQPLE RSQEGPSSTS GTTQKPAKDD
1260 1270 1280 1290 1300
SPSSLESSKE EKPKQDPGAI KSSPVDATAP CMCEGPTLSP EPGSSNLLST
1310 1320 1330 1340 1350
QDAVVQCRKR MSETEPSGDN LLSSKLERPS GGSKPFHRSR PGRPQSLILF
1360 1370 1380 1390 1400
SPPFPIMDHL PPSSTVTDSK VLLSPIRSPT QTVSPGLLCG ELAENTWVTP
1410 1420 1430 1440
EGVTLRNKMT IPKNGQRLET STSCFYQPQR RSVILDGRSG RQIE
Length:1,444
Mass (Da):156,985
Last modified:May 18, 2010 - v2
Checksum:iB1AF26D24506BF11
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039122221P → L.Corresponds to variant rs751793dbSNPEnsembl.1
Natural variantiVAR_065919727T → I.1 PublicationCorresponds to variant rs539048828dbSNPEnsembl.1
Natural variantiVAR_039123803G → S.2 PublicationsCorresponds to variant rs3732413dbSNPEnsembl.1
Natural variantiVAR_0391241115I → L.Corresponds to variant rs12107254dbSNPEnsembl.1
Natural variantiVAR_0391251366V → M.Corresponds to variant rs3796360dbSNPEnsembl.1
Natural variantiVAR_0391261380T → I.Corresponds to variant rs9852894dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ2M1Z3.
SMRiQ2M1Z3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121578. 2 interactors.
IntActiQ2M1Z3. 3 interactors.
MINTiMINT-7302503.
STRINGi9606.ENSP00000264245.

PTM databases

iPTMnetiQ2M1Z3.
PhosphoSitePlusiQ2M1Z3.

Polymorphism and mutation databases

BioMutaiARHGAP31.
DMDMi296452881.

Proteomic databases

EPDiQ2M1Z3.
MaxQBiQ2M1Z3.
PaxDbiQ2M1Z3.
PeptideAtlasiQ2M1Z3.
PRIDEiQ2M1Z3.

Protocols and materials databases

DNASUi57514.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264245; ENSP00000264245; ENSG00000031081.
GeneIDi57514.
KEGGihsa:57514.
UCSCiuc003ecj.5. human.

Organism-specific databases

CTDi57514.
DisGeNETi57514.
GeneCardsiARHGAP31.
H-InvDBHIX0003583.
HGNCiHGNC:29216. ARHGAP31.
HPAiHPA036380.
MalaCardsiARHGAP31.
MIMi100300. phenotype.
610911. gene.
neXtProtiNX_Q2M1Z3.
OpenTargetsiENSG00000031081.
Orphaneti974. Adams-Oliver syndrome.
PharmGKBiPA165696843.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IPFT. Eukaryota.
ENOG410ZIYP. LUCA.
GeneTreeiENSGT00840000129752.
HOGENOMiHOG000060178.
HOVERGENiHBG105825.
InParanoidiQ2M1Z3.
KOiK20646.
OMAiNTWVTPE.
OrthoDBiEOG091G02IN.
PhylomeDBiQ2M1Z3.
TreeFamiTF351451.

Enzyme and pathway databases

ReactomeiR-HSA-194840. Rho GTPase cycle.

Miscellaneous databases

ChiTaRSiARHGAP31. human.
GeneWikiiARHGAP31.
GenomeRNAii57514.
PROiQ2M1Z3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000031081.
ExpressionAtlasiQ2M1Z3. baseline and differential.
GenevisibleiQ2M1Z3. HS.

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]
ProtoNetiSearch...

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: November 2, 2016
This is version 96 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.