UniProtKB - Q2M1Z3 (RHG31_HUMAN)
Protein
Rho GTPase-activating protein 31
Gene
ARHGAP31
Organism
Homo sapiens (Human)
Status
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
- GTPase activator activity Source: GO_Central
- SH3 domain binding Source: Ensembl
GO - Biological processi
- regulation of small GTPase mediated signal transduction Source: Reactome
- small GTPase mediated signal transduction Source: GO_Central
Keywordsi
Molecular function | GTPase activation |
Enzyme and pathway databases
PathwayCommonsi | Q2M1Z3 |
Reactomei | R-HSA-194840, Rho GTPase cycle |
SIGNORi | Q2M1Z3 |
Names & Taxonomyi
Protein namesi | Recommended name: Rho GTPase-activating protein 31Alternative name(s): Cdc42 GTPase-activating protein |
Gene namesi | Name:ARHGAP31 Synonyms:CDGAP, KIAA1204 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29216, ARHGAP31 |
MIMi | 610911, gene |
neXtProti | NX_Q2M1Z3 |
VEuPathDBi | HostDB:ENSG00000031081.10 |
Subcellular locationi
Other locations
- lamellipodium
- focal adhesion By similarity
Cytosol
- cytosol Source: Reactome
Other locations
- focal adhesion Source: UniProtKB-SubCell
- lamellipodium Source: GO_Central
Keywords - Cellular componenti
Cell junction, Cell projectionPathology & Biotechi
Involvement in diseasei
Adams-Oliver syndrome 1 (AOS1)1 Publication
The disease is caused by variants 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.
Related information in OMIMOrganism-specific databases
DisGeNETi | 57514 |
GeneReviewsi | ARHGAP31 |
MalaCardsi | ARHGAP31 |
MIMi | 100300, phenotype |
OpenTargetsi | ENSG00000031081 |
Orphaneti | 974, Adams-Oliver syndrome |
PharmGKBi | PA165696843 |
Miscellaneous databases
Pharosi | Q2M1Z3, Tbio |
Genetic variation databases
BioMutai | ARHGAP31 |
DMDMi | 296452881 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000320114 | 1 – 1444 | Rho GTPase-activating protein 31Add BLAST | 1444 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 272 | PhosphoserineBy similarity | 1 | |
Modified residuei | 286 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 346 | PhosphoserineBy similarity | 1 | |
Modified residuei | 349 | PhosphoserineBy similarity | 1 | |
Modified residuei | 387 | PhosphoserineBy similarity | 1 | |
Modified residuei | 476 | PhosphoserineBy similarity | 1 | |
Modified residuei | 679 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 701 | PhosphoserineBy similarity | 1 | |
Modified residuei | 712 | PhosphoserineBy similarity | 1 | |
Modified residuei | 778 | PhosphoserineBy similarity | 1 | |
Modified residuei | 789 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 974 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1105 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1106 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1178 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Phosphorylation on Thr-789 reduces GAP activity.By similarity
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q2M1Z3 |
jPOSTi | Q2M1Z3 |
MassIVEi | Q2M1Z3 |
MaxQBi | Q2M1Z3 |
PaxDbi | Q2M1Z3 |
PeptideAtlasi | Q2M1Z3 |
PRIDEi | Q2M1Z3 |
ProteomicsDBi | 61343 |
PTM databases
iPTMneti | Q2M1Z3 |
PhosphoSitePlusi | Q2M1Z3 |
Expressioni
Developmental stagei
Mainly expressed in fetal heart and muscle.
Gene expression databases
Bgeei | ENSG00000031081, Expressed in cardiac muscle of right atrium and 209 other tissues |
ExpressionAtlasi | Q2M1Z3, baseline and differential |
Genevisiblei | Q2M1Z3, HS |
Organism-specific databases
HPAi | ENSG00000031081, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with ITSN1, which inhibits GAP activity.
Interacts with PARVA (By similarity).
Interacts with GTP-loaded RHOU.
By similarity1 PublicationGO - Molecular functioni
- SH3 domain binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 121578, 5 interactors |
IntActi | Q2M1Z3, 22 interactors |
MINTi | Q2M1Z3 |
STRINGi | 9606.ENSP00000264245 |
Miscellaneous databases
RNActi | Q2M1Z3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 21 – 216 | Rho-GAPPROSITE-ProRule annotationAdd BLAST | 196 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 673 – 790 | Pro-richAdd BLAST | 118 | |
Compositional biasi | 971 – 974 | Poly-Ser | 4 |
Phylogenomic databases
eggNOGi | KOG1449, Eukaryota |
GeneTreei | ENSGT00940000159458 |
HOGENOMi | CLU_006917_0_0_1 |
InParanoidi | Q2M1Z3 |
OMAi | RTNPYID |
OrthoDBi | 1300981at2759 |
PhylomeDBi | Q2M1Z3 |
TreeFami | TF351451 |
Family and domain databases
Gene3Di | 1.10.555.10, 1 hit |
InterProi | View protein in InterPro IPR008936, Rho_GTPase_activation_prot IPR000198, RhoGAP_dom |
Pfami | View protein in Pfam PF00620, RhoGAP, 1 hit |
SMARTi | View protein in SMART SM00324, RhoGAP, 1 hit |
SUPFAMi | SSF48350, SSF48350, 1 hit |
PROSITEi | View protein in PROSITE PS50238, RHOGAP, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q2M1Z3-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketC9J652 | C9J652_HUMAN | Rho GTPase-activating protein 31 | ARHGAP31 | 165 | Annotation score: |
Sequence cautioni
The sequence BAA86518 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_039122 | 221 | P → L. Corresponds to variant dbSNP:rs751793EnsemblClinVar. | 1 | |
Natural variantiVAR_065919 | 727 | T → I1 PublicationCorresponds to variant dbSNP:rs539048828Ensembl. | 1 | |
Natural variantiVAR_039123 | 803 | G → S2 PublicationsCorresponds to variant dbSNP:rs3732413EnsemblClinVar. | 1 | |
Natural variantiVAR_039124 | 1115 | I → L. Corresponds to variant dbSNP:rs12107254Ensembl. | 1 | |
Natural variantiVAR_039125 | 1366 | V → M. Corresponds to variant dbSNP:rs3796360EnsemblClinVar. | 1 | |
Natural variantiVAR_039126 | 1380 | T → I. Corresponds to variant dbSNP:rs9852894EnsemblClinVar. | 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 |
CCDSi | CCDS43135.1 |
PIRi | A59437 |
RefSeqi | NP_065805.2, NM_020754.3 |
Genome annotation databases
Ensembli | ENST00000264245; ENSP00000264245; ENSG00000031081 |
GeneIDi | 57514 |
KEGGi | hsa:57514 |
UCSCi | uc003ecj.5, human |
Similar proteinsi
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 |
CCDSi | CCDS43135.1 |
PIRi | A59437 |
RefSeqi | NP_065805.2, NM_020754.3 |
3D structure databases
SMRi | Q2M1Z3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121578, 5 interactors |
IntActi | Q2M1Z3, 22 interactors |
MINTi | Q2M1Z3 |
STRINGi | 9606.ENSP00000264245 |
PTM databases
iPTMneti | Q2M1Z3 |
PhosphoSitePlusi | Q2M1Z3 |
Genetic variation databases
BioMutai | ARHGAP31 |
DMDMi | 296452881 |
Proteomic databases
EPDi | Q2M1Z3 |
jPOSTi | Q2M1Z3 |
MassIVEi | Q2M1Z3 |
MaxQBi | Q2M1Z3 |
PaxDbi | Q2M1Z3 |
PeptideAtlasi | Q2M1Z3 |
PRIDEi | Q2M1Z3 |
ProteomicsDBi | 61343 |
Protocols and materials databases
Antibodypediai | 49897, 33 antibodies |
DNASUi | 57514 |
Genome annotation databases
Ensembli | ENST00000264245; ENSP00000264245; ENSG00000031081 |
GeneIDi | 57514 |
KEGGi | hsa:57514 |
UCSCi | uc003ecj.5, human |
Organism-specific databases
CTDi | 57514 |
DisGeNETi | 57514 |
GeneCardsi | ARHGAP31 |
GeneReviewsi | ARHGAP31 |
HGNCi | HGNC:29216, ARHGAP31 |
HPAi | ENSG00000031081, Low tissue specificity |
MalaCardsi | ARHGAP31 |
MIMi | 100300, phenotype 610911, gene |
neXtProti | NX_Q2M1Z3 |
OpenTargetsi | ENSG00000031081 |
Orphaneti | 974, Adams-Oliver syndrome |
PharmGKBi | PA165696843 |
VEuPathDBi | HostDB:ENSG00000031081.10 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1449, Eukaryota |
GeneTreei | ENSGT00940000159458 |
HOGENOMi | CLU_006917_0_0_1 |
InParanoidi | Q2M1Z3 |
OMAi | RTNPYID |
OrthoDBi | 1300981at2759 |
PhylomeDBi | Q2M1Z3 |
TreeFami | TF351451 |
Enzyme and pathway databases
PathwayCommonsi | Q2M1Z3 |
Reactomei | R-HSA-194840, Rho GTPase cycle |
SIGNORi | Q2M1Z3 |
Miscellaneous databases
BioGRID-ORCSi | 57514, 7 hits in 875 CRISPR screens |
ChiTaRSi | ARHGAP31, human |
GeneWikii | ARHGAP31 |
GenomeRNAii | 57514 |
Pharosi | Q2M1Z3, Tbio |
PROi | PR:Q2M1Z3 |
RNActi | Q2M1Z3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000031081, Expressed in cardiac muscle of right atrium and 209 other tissues |
ExpressionAtlasi | Q2M1Z3, baseline and differential |
Genevisiblei | Q2M1Z3, HS |
Family and domain databases
Gene3Di | 1.10.555.10, 1 hit |
InterProi | View protein in InterPro IPR008936, Rho_GTPase_activation_prot IPR000198, RhoGAP_dom |
Pfami | View protein in Pfam PF00620, RhoGAP, 1 hit |
SMARTi | View protein in SMART SM00324, RhoGAP, 1 hit |
SUPFAMi | SSF48350, SSF48350, 1 hit |
PROSITEi | View protein in PROSITE PS50238, RHOGAP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RHG31_HUMAN | |
Accessioni | Q2M1Z3Primary (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: | February 10, 2021 | |
This is version 121 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot