ID ABR_HUMAN Reviewed; 859 AA. AC Q12979; Q13693; Q13694; DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1996, sequence version 1. DT 16-JUN-2009, entry version 76. DE RecName: Full=Active breakpoint cluster region-related protein; GN Name=ABR; 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]. RC TISSUE=Hippocampus; RX MEDLINE=94086546; PubMed=8262969; RA Tan E.-C., Leung T., Manser E., Lim L.; RT "The human active breakpoint cluster region-related gene encodes a RT brain protein with homology to guanine nucleotide exchange proteins RT and GTPase-activating proteins."; RL J. Biol. Chem. 268:27291-27298(1993). RN [2] RP NUCLEOTIDE SEQUENCE OF 39-859 (ISOFORMS LONG AND SHORT). RC TISSUE=Fibroblast; RX MEDLINE=93352461; PubMed=8349582; RA Heisterkamp N., Kaartinen V., van Soest S., Bokoch G.M., Groffen J.; RT "Human ABR encodes a protein with GAPrac activity and homology to the RT DBL nucleotide exchange factor domain."; RL J. Biol. Chem. 268:16903-16906(1993). RN [3] RP NUCLEOTIDE SEQUENCE OF 436-597. RX MEDLINE=90067847; PubMed=2587217; DOI=10.1093/nar/17.21.8821; RA Heisterkamp N., Morris C., Groffen J.; RT "ABR, an active BCR-related gene."; RL Nucleic Acids Res. 17:8821-8831(1989). CC -!- FUNCTION: GTPase-activating protein for RAC and CDC42. Promotes CC the exchange of RAC or CDC42-bound GDP by GTP, thereby activating CC them. CC -!- INTERACTION: CC P00519:ABL1; NbExp=1; IntAct=EBI-489922, EBI-375543; CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=Long; CC IsoId=Q12979-1; Sequence=Displayed; CC Name=Short; CC IsoId=Q12979-2; Sequence=VSP_001815; CC -!- TISSUE SPECIFICITY: Highly enriched in the brain. Much weaker CC expression in heart, lung and muscle. CC -!- SIMILARITY: Contains 1 C2 domain. CC -!- SIMILARITY: Contains 1 DH (DBL-homology) domain. CC -!- SIMILARITY: Contains 1 PH domain. CC -!- SIMILARITY: Contains 1 Rho-GAP domain. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; U01147; AAC50063.1; -; mRNA. DR EMBL; L19704; AAC37519.1; -; Unassigned_DNA. DR EMBL; L19705; AAC37518.1; ALT_INIT; Unassigned_DNA. DR IPI; IPI00030389; -. DR IPI; IPI00298955; -. DR PIR; A47485; A47485. DR PIR; A49307; A49307. DR RefSeq; NP_068781.2; -. DR UniGene; Hs.159306; -. DR HSSP; Q98935; 1F7C. DR IntAct; Q12979; 2. DR PhosphoSite; Q12979; -. DR PRIDE; Q12979; -. DR Ensembl; ENSG00000159842; Homo sapiens. DR GeneID; 29; -. DR GeneCards; GC17M000853; -. DR H-InvDB; HIX0013395; -. DR HGNC; HGNC:81; ABR. DR MIM; 600365; gene. DR PharmGKB; PA24417; -. DR HOGENOM; Q12979; -. DR HOVERGEN; Q12979; -. DR Reactome; REACT_11044; Signaling by Rho GTPases. DR NextBio; 101; -. DR ArrayExpress; Q12979; -. DR Bgee; Q12979; -. DR CleanEx; HS_ABR; -. DR GermOnline; ENSG00000159842; Homo sapiens. DR GO; GO:0005622; C:intracellular; IEA:InterPro. DR GO; GO:0005096; F:GTPase activator activity; TAS:ProtInc. DR GO; GO:0005515; F:protein binding; IPI:IntAct. DR GO; GO:0005089; F:Rho guanyl-nucleotide exchange factor activity; IEA:InterPro. DR GO; GO:0035023; P:regulation of Rho protein signal transduction; IEA:InterPro. DR GO; GO:0007264; P:small GTPase mediated signal transduction; TAS:ProtInc. DR InterPro; IPR000008; C2_Ca-dep. DR InterPro; IPR018029; C2_membr_targeting. DR InterPro; IPR000219; DH-domain. DR InterPro; IPR001331; GDS_CDC24_CS. DR InterPro; IPR001849; Pleckstrin_homology. DR InterPro; IPR000198; RhoGAP. DR Gene3D; G3DSA:1.10.555.10; RhoGAP; 1. DR Gene3D; G3DSA:1.20.900.10; RhoGEF; 1. DR Pfam; PF00168; C2; 1. DR Pfam; PF00169; PH; 1. DR Pfam; PF00620; RhoGAP; 1. DR Pfam; PF00621; RhoGEF; 1. DR SMART; SM00239; C2; 1. DR SMART; SM00233; PH; 1. DR SMART; SM00324; RhoGAP; 1. DR SMART; SM00325; RhoGEF; 1. DR PROSITE; PS50004; C2; 1. DR PROSITE; PS00741; DH_1; 1. DR PROSITE; PS50010; DH_2; 1. DR PROSITE; PS50003; PH_DOMAIN; 1. DR PROSITE; PS50238; RHOGAP; 1. PE 1: Evidence at protein level; KW Alternative splicing; GTPase activation; KW Guanine-nucleotide releasing factor; Polymorphism. FT CHAIN 1 859 Active breakpoint cluster region-related FT protein. FT /FTId=PRO_0000080902. FT DOMAIN 91 284 DH. FT DOMAIN 301 459 PH. FT DOMAIN 463 595 C2. FT DOMAIN 647 845 Rho-GAP. FT COMPBIAS 417 420 Poly-Leu. FT VAR_SEQ 1 82 MEPLSHRGLPRLSWIDTLYSNFSYGTDEYDGEGNEEQKGPP FT EGSETMPYIDESPTMSPQLSARSQGRGDGVSPTPPEGLAPG FT -> MEEEEEAIGLLDKVLEDEDVFLLEECELGTPTSPGSGS FT PFLVAVK (in isoform Short). FT /FTId=VSP_001815. FT VARIANT 517 517 K -> R (in dbSNP:rs34169260). FT /FTId=VAR_057186. FT CONFLICT 67 67 R -> G (in Ref. 2; AAC37518). FT CONFLICT 657 660 RSKV -> VQGA (in Ref. 2; AAC37519). FT CONFLICT 761 761 L -> V (in Ref. 2; AAC37519). SQ SEQUENCE 859 AA; 97697 MW; 9FD50CD54FA99483 CRC64; MEPLSHRGLP RLSWIDTLYS NFSYGTDEYD GEGNEEQKGP PEGSETMPYI DESPTMSPQL SARSQGRGDG VSPTPPEGLA PGVEAGKGLE MRKLVLSGFL ASEEIYINQL EALLLPMKPL KATATTSQPV LTIQQIETIF YKIQDIYEIH KEFYDNLCPK VQQWDSQVTM GHLFQKLASQ LGVYKAFVDN YKVALETAEK CSQSNNQFQK ISEELKVKGP KDSKDSHTSV TMEALLYKPI DRVTRSTLVL HDLLKHTPVD HPDYPLLQDA LRISQNFLSS INEDIDPRRT AVTTPKGETR QLVKDGFLVE VSESSRKLRH VFLFTDVLLC AKLKKTSAGK HQQYDCKWYI PLADLVFPSP EESEASPQVH PFPDHELEDM KMKISALKSE IQKEKANKGQ SRAIERLKKK MFENEFLLLL NSPTIPFRIH NRNGKSYLFL LSSDYERSEW REAIQKLQKK DLQAFVLSSV ELQVLTGSCF KLRTVHNIPV TSNKDDDESP GLYGFLHVIV HSAKGFKQSA NLYCTLEVDS FGYFVSKAKT RVFRDTAEPK WDEEFEIELE GSQSLRILCY EKCYDKTKVN KDNNEIVDKI MGKGQIQLDP QTVETKNWHT DVIEMNGIKV EFSMKFTSRD MSLKRTPSKK QTGVFGVKIS VVTKRERSKV PYIVRQCVEE VEKRGIEEVG IYRISGVATD IQALKAVFDA NNKDILLMLS DMDINAIAGT LKLYFRELPE PLLTDRLYPA FMEGIALSDP AAKENCMMHL LRSLPDPNLI TFLFLLEHLK RVAEKEPINK MSLHNLATVF GPTLLRPSEV ESKAHLTSAA DIWSHDVMAQ VQVLLYYLQH PPISFAELKR NTLYFSTDV //