GenomeNet

Database: UniProt
Entry: Q9UNA1
LinkDB: Q9UNA1
Original site: Q9UNA1 
ID   RHG26_HUMAN             Reviewed;         814 AA.
AC   Q9UNA1; O75117; Q5D035; Q9BYS6; Q9BYS7; Q9UJ00;
DT   11-JUL-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-MAY-2000, sequence version 1.
DT   29-OCT-2014, entry version 143.
DE   RecName: Full=Rho GTPase-activating protein 26;
DE   AltName: Full=GTPase regulator associated with focal adhesion kinase;
DE   AltName: Full=Oligophrenin-1-like protein;
DE   AltName: Full=Rho-type GTPase-activating protein 26;
GN   Name=ARHGAP26; Synonyms=GRAF, KIAA0621, OPHN1L;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC   TISSUE=Heart, Liver, and Placenta;
RA   Xia J.H., Tang X.X., Yu K.P., Pan Q., Dai H.P.;
RT   "Molecular cloning of human oligophrenin-1 like (OPHN1L) gene,
RT   complete CDS.";
RL   Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2), DISEASE, AND VARIANT
RP   LEUKEMIA SER-417.
RX   PubMed=10908648; DOI=10.1073/pnas.150079597;
RA   Borkhardt A., Bojesen S., Haas O.A., Fuchs U., Bartelheimer D.,
RA   Loncarevic I.F., Bohle R.M., Harbott J., Repp R., Jaeger U.,
RA   Viehmann S., Henn T., Korth P., Scharr D., Lampert F.;
RT   "The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and
RT   both alleles are disrupted in three cases of myelodysplastic
RT   syndrome/acute myeloid leukemia with a deletion 5q.";
RL   Proc. Natl. Acad. Sci. U.S.A. 97:9168-9173(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Placenta;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 53-785.
RA   Bojesen S.E., Link C., Borkhardt A.;
RT   "Genomic structure of the human GRAF gene.";
RL   Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 62-814 (ISOFORM 1).
RC   TISSUE=Brain;
RX   PubMed=9734811; DOI=10.1093/dnares/5.3.169;
RA   Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H.,
RA   Nomura N., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. X.
RT   The complete sequences of 100 new cDNA clones from brain which can
RT   code for large proteins in vitro.";
RL   DNA Res. 5:169-176(1998).
RN   [7]
RP   STRUCTURE BY NMR OF 754-814.
RG   RIKEN structural genomics initiative (RSGI);
RT   "Solution structure of the SH3 domain of human oligophrenin-1-like
RT   protein (KIAA0621).";
RL   Submitted (DEC-2003) to the PDB data bank.
CC   -!- FUNCTION: GTPase-activating protein for RHOA and CDC42.
CC   -!- SUBUNIT: Interacts with NYAP1, NYAP2 and MYO16 (By similarity).
CC       Binds to the C-terminus of PTK2/FAK1. {ECO:0000250}.
CC   -!- INTERACTION:
CC       Q6P5Z2:PKN3; NbExp=4; IntAct=EBI-1390913, EBI-1384335;
CC   -!- SUBCELLULAR LOCATION: Cell junction, focal adhesion {ECO:0000250}.
CC       Cytoplasm, cytoskeleton {ECO:0000250}. Note=Colocalizes with actin
CC       stress fibers and cortical actin structures. {ECO:0000250}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9UNA1-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9UNA1-2; Sequence=VSP_001659;
CC   -!- DISEASE: Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An
CC       aggressive pediatric myelodysplastic syndrome/myeloproliferative
CC       disorder characterized by malignant transformation in the
CC       hematopoietic stem cell compartment with proliferation of
CC       differentiated progeny. Patients have splenomegaly, enlarged lymph
CC       nodes, rashes, and hemorrhages. Note=The gene represented in this
CC       entry is involved in disease pathogenesis. A chromosomal
CC       translocation t(5;11)(q31;q23) with KMT2A/MLL1 has been found in
CC       leukemic cells from JMML patients, also carrying inactivating
CC       mutations on the second allele (PubMed:10908648).
CC       {ECO:0000269|PubMed:10908648}.
CC   -!- SIMILARITY: Contains 1 PH domain. {ECO:0000255|PROSITE-
CC       ProRule:PRU00145}.
CC   -!- SIMILARITY: Contains 1 Rho-GAP domain. {ECO:0000255|PROSITE-
CC       ProRule:PRU00172}.
CC   -!- SIMILARITY: Contains 1 SH3 domain. {ECO:0000255|PROSITE-
CC       ProRule:PRU00192}.
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC       and Haematology;
CC       URL="http://atlasgeneticsoncology.org/Genes/GRAFID291.html";
CC   -!- WEB RESOURCE: Name=Wikipedia; Note=Graf1 entry;
CC       URL="http://en.wikipedia.org/wiki/Graf1";
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DR   EMBL; AF141884; AAD39482.1; -; mRNA.
DR   EMBL; Y10388; CAA71414.2; -; Genomic_DNA.
DR   EMBL; CH471062; EAW61876.1; -; Genomic_DNA.
DR   EMBL; BC068555; AAH68555.1; -; mRNA.
DR   EMBL; AJ309466; CAC29145.2; -; Genomic_DNA.
DR   EMBL; AJ309467; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309468; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309469; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309470; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309471; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309472; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309473; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309474; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309475; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309476; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309477; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309478; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309479; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309480; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309481; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309482; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309483; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309484; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309485; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309486; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309487; CAC29145.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309466; CAC29146.2; -; Genomic_DNA.
DR   EMBL; AJ309467; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309468; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309469; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309470; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309471; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309472; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309473; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309474; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309475; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309476; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309477; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309478; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309479; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309480; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309481; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309482; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309483; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309484; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309485; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AJ309487; CAC29146.2; JOINED; Genomic_DNA.
DR   EMBL; AB014521; BAA31596.1; -; mRNA.
DR   CCDS; CCDS4277.1; -. [Q9UNA1-1]
DR   CCDS; CCDS47297.1; -. [Q9UNA1-2]
DR   PIR; F59430; F59430.
DR   RefSeq; NP_001129080.1; NM_001135608.1. [Q9UNA1-2]
DR   RefSeq; NP_055886.1; NM_015071.4. [Q9UNA1-1]
DR   UniGene; Hs.654668; -.
DR   PDB; 1UGV; NMR; -; A=756-814.
DR   PDBsum; 1UGV; -.
DR   ProteinModelPortal; Q9UNA1; -.
DR   SMR; Q9UNA1; 383-573, 754-814.
DR   BioGrid; 116720; 8.
DR   IntAct; Q9UNA1; 6.
DR   MINT; MINT-203139; -.
DR   STRING; 9606.ENSP00000274498; -.
DR   PhosphoSite; Q9UNA1; -.
DR   DMDM; 21759332; -.
DR   MaxQB; Q9UNA1; -.
DR   PaxDb; Q9UNA1; -.
DR   PRIDE; Q9UNA1; -.
DR   Ensembl; ENST00000274498; ENSP00000274498; ENSG00000145819. [Q9UNA1-1]
DR   Ensembl; ENST00000378004; ENSP00000367243; ENSG00000145819. [Q9UNA1-2]
DR   GeneID; 23092; -.
DR   KEGG; hsa:23092; -.
DR   UCSC; uc003lmt.3; human. [Q9UNA1-2]
DR   UCSC; uc011dbj.2; human. [Q9UNA1-1]
DR   CTD; 23092; -.
DR   GeneCards; GC05P142130; -.
DR   H-InvDB; HIX0005269; -.
DR   HGNC; HGNC:17073; ARHGAP26.
DR   HPA; HPA035106; -.
DR   HPA; HPA035107; -.
DR   MIM; 605370; gene.
DR   MIM; 607785; phenotype.
DR   neXtProt; NX_Q9UNA1; -.
DR   PharmGKB; PA134946198; -.
DR   eggNOG; NOG311191; -.
DR   GeneTree; ENSGT00760000118882; -.
DR   HOGENOM; HOG000018767; -.
DR   HOVERGEN; HBG067993; -.
DR   InParanoid; Q9UNA1; -.
DR   OMA; KDFGDFK; -.
DR   OrthoDB; EOG71VSS5; -.
DR   PhylomeDB; Q9UNA1; -.
DR   TreeFam; TF316851; -.
DR   Reactome; REACT_11051; Rho GTPase cycle.
DR   ChiTaRS; ARHGAP26; human.
DR   EvolutionaryTrace; Q9UNA1; -.
DR   GeneWiki; ARHGAP26; -.
DR   GenomeRNAi; 23092; -.
DR   NextBio; 44247; -.
DR   PRO; PR:Q9UNA1; -.
DR   Bgee; Q9UNA1; -.
DR   CleanEx; HS_ARHGAP26; -.
DR   ExpressionAtlas; Q9UNA1; baseline and differential.
DR   Genevestigator; Q9UNA1; -.
DR   GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR   GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR   GO; GO:0005829; C:cytosol; TAS:Reactome.
DR   GO; GO:0005543; F:phospholipid binding; IDA:FlyBase.
DR   GO; GO:0005100; F:Rho GTPase activator activity; NAS:UniProtKB.
DR   GO; GO:0030036; P:actin cytoskeleton organization; NAS:UniProtKB.
DR   GO; GO:0046847; P:filopodium assembly; IEA:InterPro.
DR   GO; GO:0007399; P:nervous system development; NAS:UniProtKB.
DR   GO; GO:0032321; P:positive regulation of Rho GTPase activity; NAS:GOC.
DR   GO; GO:0051056; P:regulation of small GTPase mediated signal transduction; TAS:Reactome.
DR   GO; GO:0007264; P:small GTPase mediated signal transduction; TAS:Reactome.
DR   Gene3D; 1.10.555.10; -; 1.
DR   Gene3D; 2.30.29.30; -; 1.
DR   InterPro; IPR013606; IRSp53/MIM_homology_IMD.
DR   InterPro; IPR001849; PH_domain.
DR   InterPro; IPR011993; PH_like_dom.
DR   InterPro; IPR008936; Rho_GTPase_activation_prot.
DR   InterPro; IPR000198; RhoGAP_dom.
DR   InterPro; IPR001452; SH3_domain.
DR   Pfam; PF08397; IMD; 1.
DR   Pfam; PF00620; RhoGAP; 1.
DR   Pfam; PF14604; SH3_9; 1.
DR   SMART; SM00233; PH; 1.
DR   SMART; SM00324; RhoGAP; 1.
DR   SMART; SM00326; SH3; 1.
DR   SUPFAM; SSF48350; SSF48350; 1.
DR   SUPFAM; SSF50044; SSF50044; 2.
DR   PROSITE; PS50003; PH_DOMAIN; 1.
DR   PROSITE; PS50238; RHOGAP; 1.
DR   PROSITE; PS50002; SH3; 1.
PE   1: Evidence at protein level;
KW   3D-structure; Alternative splicing; Cell junction;
KW   Chromosomal rearrangement; Complete proteome; Cytoplasm; Cytoskeleton;
KW   Disease mutation; GTPase activation; Proto-oncogene;
KW   Reference proteome; SH3 domain.
FT   CHAIN         1    814       Rho GTPase-activating protein 26.
FT                                /FTId=PRO_0000056718.
FT   DOMAIN      265    369       PH. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00145}.
FT   DOMAIN      383    568       Rho-GAP. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00172}.
FT   DOMAIN      756    814       SH3. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00192}.
FT   COMPBIAS    584    701       Ser-rich.
FT   VAR_SEQ     700    754       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_001659.
FT   VARIANT     417    417       N -> S (in JMML; somatic mutation).
FT                                {ECO:0000269|PubMed:10908648}.
FT                                /FTId=VAR_013623.
FT   CONFLICT    355    355       E -> G (in Ref. 2; CAA71414 and 3;
FT                                CAC29145/CAC29146). {ECO:0000305}.
FT   STRAND      761    765       {ECO:0000244|PDB:1UGV}.
FT   STRAND      771    774       {ECO:0000244|PDB:1UGV}.
FT   STRAND      782    785       {ECO:0000244|PDB:1UGV}.
FT   STRAND      794    801       {ECO:0000244|PDB:1UGV}.
FT   STRAND      803    807       {ECO:0000244|PDB:1UGV}.
FT   HELIX       808    810       {ECO:0000244|PDB:1UGV}.
FT   STRAND      811    813       {ECO:0000244|PDB:1UGV}.
SQ   SEQUENCE   814 AA;  92235 MW;  5C81DBDECB32B18A CRC64;
     MGLPALEFSD CCLDSPHFRE TLKSHEAELD KTNKFIKELI KDGKSLISAL KNLSSAKRKF
     ADSLNEFKFQ CIGDAETDDE MCIARSLQEF ATVLRNLEDE RIRMIENASE VLITPLEKFR
     KEQIGAAKEA KKKYDKETEK YCGILEKHLN LSSKKKESQL QEADSQVDLV RQHFYEVSLE
     YVFKVQEVQE RKMFEFVEPL LAFLQGLFTF YHHGYELAKD FGDFKTQLTI SIQNTRNRFE
     GTRSEVESLM KKMKENPLEH KTISPYTMEG YLYVQEKRHF GTSWVKHYCT YQRDSKQITM
     VPFDQKSGGK GGEDESVILK SCTRRKTDSI EKRFCFDVEA VDRPGVITMQ ALSEEDRRLW
     MEAMDGREPV YNSNKDSQSE GTAQLDSIGF SIIRKCIHAV ETRGINEQGL YRIVGVNSRV
     QKLLSVLMDP KTASETETDI CAEWEIKTIT SALKTYLRML PGPLMMYQFQ RSFIKAAKLE
     NQESRVSEIH SLVHRLPEKN RQMLQLLMNH LANVANNHKQ NLMTVANLGV VFGPTLLRPQ
     EETVAAIMDI KFQNIVIEIL IENHEKIFNT VPDMPLTNAQ LHLSRKKSSD SKPPSCSERP
     LTLFHTVQST EKQEQRNSII NSSLESVSSN PNSILNSSSS LQPNMNSSDP DLAVVKPTRP
     NSLPPNPSPT SPLSPSWPMF SAPSSPMPTS STSSDSSPVR SVAGFVWFSV AAVVLSLARS
     SLHAVFSLLV NFVPCHPNLH LLFDRPEEAV HEDSSTPFRK AKALYACKAE HDSELSFTAG
     TVFDNVHPSQ EPGWLEGTLN GKTGLIPENY VEFL
//
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