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Q8IWW6 (RHG12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 107. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Rho GTPase-activating protein 12
Alternative name(s):
Rho-type GTPase-activating protein 12
Gene names
Name:ARHGAP12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length846 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state By similarity.

Sequence similarities

Contains 1 PH domain.

Contains 1 Rho-GAP domain.

Contains 1 SH3 domain.

Contains 2 WW domains.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
SH3 domain
   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

   Molecular_functionGTPase activator activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IWW6-1)

Also known as: ARHGAP12b;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8IWW6-2)

Also known as: ARHGAP12a;

The sequence of this isoform differs from the canonical sequence as follows:
     433-462: Missing.
Isoform 3 (identifier: Q8IWW6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     317-363: Missing.
     458-462: Missing.
Isoform 4 (identifier: Q8IWW6-4)

The sequence of this isoform differs from the canonical sequence as follows:
     458-462: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 846846Rho GTPase-activating protein 12
PRO_0000056713

Regions

Domain12 – 7463SH3
Domain265 – 29834WW 1
Domain358 – 39134WW 2
Domain463 – 575113PH
Domain656 – 844189Rho-GAP

Amino acid modifications

Modified residue1651Phosphoserine Ref.10 Ref.11
Modified residue2011Phosphoserine Ref.7
Modified residue2131Phosphoserine Ref.7 Ref.9
Modified residue2151Phosphoserine Ref.7 Ref.9
Modified residue2401Phosphoserine Ref.6 Ref.7 Ref.9
Modified residue2431Phosphotyrosine Ref.6 Ref.9
Modified residue5921Phosphoserine Ref.7

Natural variations

Alternative sequence317 – 36347Missing in isoform 3.
VSP_010326
Alternative sequence433 – 46230Missing in isoform 2.
VSP_010327
Alternative sequence458 – 4625Missing in isoform 3 and isoform 4.
VSP_010328
Natural variant4421F → S.
Corresponds to variant rs2808096 [ dbSNP | Ensembl ].
VAR_024454

Experimental info

Sequence conflict701K → R in CAD38926. Ref.4
Sequence conflict7601Q → P in CAD38926. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (ARHGAP12b) [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 274CF06B47F02DDC

FASTA84696,254
        10         20         30         40         50         60 
MKMADRSGKI IPGQVYIEVE YDYEYEAKDR KIVIKQGERY ILVKKTNDDW WQVKPDENSK 

        70         80         90        100        110        120 
AFYVPAQYVK EVTRKALMPP VKQVAGLPNN STKIMQSLHL QRSTENVNKL PELSSFGKPS 

       130        140        150        160        170        180 
SSVQGTGLIR DANQNFGPSY NQGQTVNLSL DLTHNNGKFN NDSHSPKVSS QNRTRSFGHF 

       190        200        210        220        230        240 
PGPEFLDVEK TSFSQEQSCD SAGEGSERIH QDSESGDELS SSSTEQIRAT TPPNQGRPDS 

       250        260        270        280        290        300 
PVYANLQELK ISQSALPPLP GSPAIQINGE WETHKDSSGR CYYYNRGTQE RTWKPPRWTR 

       310        320        330        340        350        360 
DASISKGDFQ NPGDQELLSS EENYYSTSYS QSDSQCGSPP RGWSEELDER GHTLYTSDYT 

       370        380        390        400        410        420 
NEKWLKHVDD QGRQYYYSAD GSRSEWELPK YNASSQQQRE IIKSRSLDRR LQEPIVLTKW 

       430        440        450        460        470        480 
RHSTIVLDTN DKESPTASKP CFPENESSPS SPKHQDTASS PKDQEKYGLL NVTKIAENGK 

       490        500        510        520        530        540 
KVRKNWLSSW AVLQGSSLLF TKTQGSSTSW FGSNQSKPEF TVDLKGATIE MASKDKSSKK 

       550        560        570        580        590        600 
NVFELKTRQG TELLIQSDND TVINDWFKVL SSTINNQAVE TDEGIEEEIP DSPGIEKHDK 

       610        620        630        640        650        660 
EKEQKDPKKL RSFKVSSIDS SEQKKTKKNL KKFLTRRPTL QAVREKGYIK DQVFGSNLAN 

       670        680        690        700        710        720 
LCQRENGTVP KFVKLCIEHV EEHGLDIDGI YRVSGNLAVI QKLRFAVNHD EKLDLNDSKW 

       730        740        750        760        770        780 
EDIHVITGAL KMFFRELPEP LFTFNHFNDF VNAIKQEPRQ RVAAVKDLIR QLPKPNQDTM 

       790        800        810        820        830        840 
QILFRHLRRV IENGEKNRMT YQSIAIVFGP TLLKPEKETG NIAVHTVYQN QIVELILLEL 


SSIFGR 

« Hide

Isoform 2 (ARHGAP12a) [UniParc].

Checksum: A948E9F7904B8DC7
Show »

FASTA81693,114
Isoform 3 [UniParc].

Checksum: 330029A7C1C294B3
Show »

FASTA79490,403
Isoform 4 [UniParc].

Checksum: 5C07E44111C30C1C
Show »

FASTA84195,784

References

« Hide 'large scale' references
[1]"Cloning and characterization of a novel human gene."
Mao Y., Xie Y., Zhang Z.
Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-846 (ISOFORM 3).
Tissue: Testis.
[5]"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] (ISOFORM 4).
Tissue: Placenta and Uterus.
[6]"Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry."
Brill L.M., Salomon A.R., Ficarro S.B., Mukherji M., Stettler-Gill M., Peters E.C.
Anal. Chem. 76:2763-2772(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-240 AND TYR-243, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-201; SER-213; SER-215; SER-240 AND SER-592, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-213; SER-215; SER-240 AND TYR-243, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[10]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-165, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-165, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY033594 mRNA. Translation: AAK52311.1.
AY033595 mRNA. Translation: AAK52312.1.
AL390715 Genomic DNA. Translation: CAI12371.1.
AL390715 Genomic DNA. Translation: CAI12372.1.
AL390715 Genomic DNA. Translation: CAI12373.1.
AL834250 mRNA. Translation: CAD38926.2.
AL137485 mRNA. Translation: CAB70766.1.
CH471072 Genomic DNA. Translation: EAW85980.1.
CH471072 Genomic DNA. Translation: EAW85983.1.
CH471072 Genomic DNA. Translation: EAW85985.1.
BC051811 mRNA. Translation: AAH51811.1.
BC094719 mRNA. Translation: AAH94719.1.
PIRT46471.
RefSeqNP_001257624.1. NM_001270695.1.
NP_001257625.1. NM_001270696.1.
NP_001257626.1. NM_001270697.1.
NP_001257627.1. NM_001270698.1.
NP_001257628.1. NM_001270699.1.
NP_060757.4. NM_018287.6.
XP_005252701.1. XM_005252644.1.
UniGeneHs.499264.
Hs.741991.

3D structure databases

ProteinModelPortalQ8IWW6.
SMRQ8IWW6. Positions 30-73, 465-574, 637-845.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125122. 5 interactions.
IntActQ8IWW6. 3 interactions.
MINTMINT-3037739.
STRING9606.ENSP00000345808.

PTM databases

PhosphoSiteQ8IWW6.

Polymorphism databases

DMDM47117238.

Proteomic databases

PaxDbQ8IWW6.
PRIDEQ8IWW6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311380; ENSP00000310984; ENSG00000165322. [Q8IWW6-3]
ENST00000344936; ENSP00000345808; ENSG00000165322. [Q8IWW6-1]
ENST00000375245; ENSP00000364394; ENSG00000165322. [Q8IWW6-3]
ENST00000375250; ENSP00000364399; ENSG00000165322. [Q8IWW6-2]
ENST00000396144; ENSP00000379448; ENSG00000165322. [Q8IWW6-4]
GeneID94134.
KEGGhsa:94134.
UCSCuc001ivy.2. human. [Q8IWW6-3]
uc001ivz.2. human. [Q8IWW6-1]
uc001iwb.2. human.
uc001iwc.2. human. [Q8IWW6-2]

Organism-specific databases

CTD94134.
GeneCardsGC10M032134.
HGNCHGNC:16348. ARHGAP12.
HPAHPA000412.
MIM610577. gene.
neXtProtNX_Q8IWW6.
PharmGKBPA24957.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG279563.
HOVERGENHBG005328.
InParanoidQ8IWW6.
OMAPGQVYIE.
OrthoDBEOG7CZK7R.
PhylomeDBQ8IWW6.
TreeFamTF329345.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
SignaLinkQ8IWW6.

Gene expression databases

ArrayExpressQ8IWW6.
BgeeQ8IWW6.
CleanExHS_ARHGAP12.
GenevestigatorQ8IWW6.

Family and domain databases

Gene3D1.10.555.10. 1 hit.
2.30.29.30. 1 hit.
InterProIPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR015767. Rho_GTPase_activating.
IPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
IPR001452. SH3_domain.
IPR001202. WW_dom.
[Graphical view]
PANTHERPTHR23181. PTHR23181. 1 hit.
PfamPF00169. PH. 1 hit.
PF00620. RhoGAP. 1 hit.
PF00397. WW. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
SM00324. RhoGAP. 1 hit.
SM00326. SH3. 1 hit.
SM00456. WW. 2 hits.
[Graphical view]
SUPFAMSSF48350. SSF48350. 1 hit.
SSF50044. SSF50044. 1 hit.
SSF51045. SSF51045. 2 hits.
PROSITEPS50003. PH_DOMAIN. 1 hit.
PS50238. RHOGAP. 1 hit.
PS50002. SH3. 1 hit.
PS50020. WW_DOMAIN_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSARHGAP12. human.
GenomeRNAi94134.
NextBio78410.
PROQ8IWW6.
SOURCESearch...

Entry information

Entry nameRHG12_HUMAN
AccessionPrimary (citable) accession number: Q8IWW6
Secondary accession number(s): B1ANY0 expand/collapse secondary AC list , B1ANY1, B1ANY2, Q504X1, Q86UB3, Q8IWW7, Q8N3L1, Q9NT76
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: March 1, 2003
Last modified: April 16, 2014
This is version 107 of the entry and version 1 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 10

Human chromosome 10: entries, gene names and cross-references to MIM