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Q2M1Z3

- RHG31_HUMAN

UniProt

Q2M1Z3 - RHG31_HUMAN

Protein

Rho GTPase-activating protein 31

Gene

ARHGAP31

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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

    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
    Name:ARHGAP31
    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

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

    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 – 3461PhosphoserineBy similarity
    Modified residuei789 – 7891PhosphothreonineBy 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.By similarity1 Publication

    Protein-protein interaction databases

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

    Structurei

    3D structure databases

    ProteinModelPortaliQ2M1Z3.
    SMRiQ2M1Z3. Positions 19-217.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini21 – 216196Rho-GAPPROSITE-ProRule annotationAdd
    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.PROSITE-ProRule annotation

    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

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    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

    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: October 1, 2014
    This is version 79 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