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 01-MAY-2013, entry version 127.
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.
CC -!- INTERACTION:
CC Q6P5Z2:PKN3; NbExp=4; IntAct=EBI-1390913, EBI-1384335;
CC -!- SUBCELLULAR LOCATION: Cell junction, focal adhesion (By
CC similarity). Cytoplasm, cytoskeleton (By similarity).
CC Note=Colocalizes with actin stress fibers and cortical actin
CC structures (By similarity).
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 MLL has been found in leukemic
CC cells from JMML patients, also carrying inactivating mutations on
CC the second allele (PubMed:10908648).
CC -!- SIMILARITY: Contains 1 PH domain.
CC -!- SIMILARITY: Contains 1 Rho-GAP domain.
CC -!- SIMILARITY: Contains 1 SH3 domain.
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 IPI; IPI00007913; -.
DR IPI; IPI00216360; -.
DR PIR; F59430; F59430.
DR RefSeq; NP_001129080.1; NM_001135608.1.
DR RefSeq; NP_055886.1; NM_015071.4.
DR UniGene; Hs.654668; -.
DR PDB; 1UGV; NMR; -; A=756-814.
DR PDBsum; 1UGV; -.
DR ProteinModelPortal; Q9UNA1; -.
DR IntAct; Q9UNA1; 1.
DR STRING; 9606.ENSP00000274498; -.
DR PhosphoSite; Q9UNA1; -.
DR DMDM; 21759332; -.
DR PaxDb; Q9UNA1; -.
DR PRIDE; Q9UNA1; -.
DR Ensembl; ENST00000274498; ENSP00000274498; ENSG00000145819.
DR Ensembl; ENST00000378004; ENSP00000367243; ENSG00000145819.
DR GeneID; 23092; -.
DR KEGG; hsa:23092; -.
DR UCSC; uc003lmt.3; human.
DR UCSC; uc011dbj.2; human.
DR CTD; 23092; -.
DR GeneCards; GC05P142130; -.
DR H-InvDB; HIX0005269; -.
DR HGNC; HGNC:17073; ARHGAP26.
DR HPA; HPA035107; -.
DR MIM; 605370; gene.
DR MIM; 607785; phenotype.
DR neXtProt; NX_Q9UNA1; -.
DR PharmGKB; PA134946198; -.
DR eggNOG; NOG311191; -.
DR HOGENOM; HOG000018767; -.
DR HOVERGEN; HBG067993; -.
DR InParanoid; Q9UNA1; -.
DR OMA; KDFGDFK; -.
DR OrthoDB; EOG4XGZZP; -.
DR PhylomeDB; Q9UNA1; -.
DR Reactome; REACT_111102; Signal Transduction.
DR ChiTaRS; ARHGAP26; human.
DR EvolutionaryTrace; Q9UNA1; -.
DR GenomeRNAi; 23092; -.
DR NextBio; 44247; -.
DR ArrayExpress; Q9UNA1; -.
DR Bgee; Q9UNA1; -.
DR CleanEx; HS_ARHGAP26; -.
DR Genevestigator; Q9UNA1; -.
DR GermOnline; ENSG00000145819; Homo sapiens.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005925; C:focal adhesion; IEA:UniProtKB-SubCell.
DR GO; GO:0005543; F:phospholipid binding; IEA:InterPro.
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: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; IPR011993; PH_like_dom.
DR InterPro; IPR001849; Pleckstrin_homology.
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; PF00018; SH3_1; 1.
DR SMART; SM00233; PH; 1.
DR SMART; SM00324; RhoGAP; 1.
DR SMART; SM00326; SH3; 1.
DR SUPFAM; SSF48350; Rho_GAP; 1.
DR SUPFAM; SSF50044; SH3; 1.
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.
FT DOMAIN 383 568 Rho-GAP.
FT DOMAIN 756 814 SH3.
FT COMPBIAS 584 701 Ser-rich.
FT VAR_SEQ 700 754 Missing (in isoform 2).
FT /FTId=VSP_001659.
FT VARIANT 417 417 N -> S (in JMML; somatic mutation).
FT /FTId=VAR_013623.
FT CONFLICT 355 355 E -> G (in Ref. 2; CAA71414 and 3;
FT CAC29145/CAC29146).
FT STRAND 761 765
FT STRAND 771 774
FT STRAND 782 785
FT STRAND 794 801
FT STRAND 803 807
FT HELIX 808 810
FT STRAND 811 813
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
//
