ID B7Z683_HUMAN Unreviewed; 641 AA.
AC B7Z683;
DT 03-MAR-2009, integrated into UniProtKB/TrEMBL.
DT 03-MAR-2009, sequence version 1.
DT 27-MAR-2024, entry version 124.
DE RecName: Full=Active breakpoint cluster region-related protein {ECO:0000256|ARBA:ARBA00019427};
GN Name=ABR {ECO:0000313|Ensembl:ENSP00000437429.2};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606 {ECO:0000313|EMBL:BAH13169.1};
RN [1] {ECO:0000313|Ensembl:ENSP00000437429.2, ECO:0000313|Proteomes:UP000005640}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2] {ECO:0000313|EMBL:BAH13169.1}
RP NUCLEOTIDE SEQUENCE.
RC TISSUE=Brain {ECO:0000313|EMBL:BAH13169.1};
RA Wakamatsu A., Yamamoto J., Kimura K., Ishii S., Watanabe K., Sugiyama A.,
RA Murakawa K., Kaida T., Tsuchiya K., Fukuzumi Y., Kumagai A., Oishi Y.,
RA Yamamoto S., Ono Y., Komori Y., Yamazaki M., Kisu Y., Nishikawa T.,
RA Sugano S., Nomura N., Isogai T.;
RT "NEDO human cDNA sequencing project focused on splicing variants.";
RL Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases.
RN [3] {ECO:0000313|Ensembl:ENSP00000480343.1}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (AUG-2022) to UniProtKB.
CC -!- SUBCELLULAR LOCATION: Cell projection, axon
CC {ECO:0000256|ARBA:ARBA00004489}. Cell projection, dendritic spine
CC {ECO:0000256|ARBA:ARBA00004552}. Synapse
CC {ECO:0000256|ARBA:ARBA00034103}.
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DR EMBL; AC015884; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC016292; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC107911; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC144836; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC212841; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC226497; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF456222; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK299909; BAH13169.1; -; mRNA.
DR RefSeq; NP_001243776.1; NM_001256847.2.
DR RefSeq; NP_001269078.1; NM_001282149.1.
DR ProteomicsDB; 6756; -.
DR Antibodypedia; 22668; 86 antibodies from 20 providers.
DR DNASU; 29; -.
DR Ensembl; ENST00000536794.6; ENSP00000437429.2; ENSG00000159842.16.
DR Ensembl; ENST00000619569.4; ENSP00000480343.1; ENSG00000278741.4.
DR Ensembl; ENST00000631260.2; ENSP00000487391.1; ENSG00000276016.4.
DR GeneID; 29; -.
DR UCSC; uc010vqg.4; human.
DR CTD; 29; -.
DR HGNC; HGNC:81; ABR.
DR VEuPathDB; HostDB:ENSG00000159842; -.
DR GeneTree; ENSGT00940000153491; -.
DR OrthoDB; 2916231at2759; -.
DR BioGRID-ORCS; 29; 17 hits in 1143 CRISPR screens.
DR ChiTaRS; ABR; human.
DR GenomeRNAi; 29; -.
DR Proteomes; UP000005640; Unplaced.
DR Bgee; ENSG00000159842; Expressed in superior frontal gyrus and 102 other cell types or tissues.
DR GO; GO:0030424; C:axon; IEA:UniProtKB-SubCell.
DR GO; GO:0043197; C:dendritic spine; IEA:UniProtKB-SubCell.
DR GO; GO:0005096; F:GTPase activator activity; IEA:UniProtKB-KW.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:UniProtKB-KW.
DR GO; GO:0007165; P:signal transduction; IEA:InterPro.
DR CDD; cd08686; C2_ABR; 1.
DR CDD; cd13366; PH_ABR; 1.
DR CDD; cd04387; RhoGAP_Bcr; 1.
DR Gene3D; 2.60.40.150; C2 domain; 1.
DR Gene3D; 1.20.900.10; Dbl homology (DH) domain; 1.
DR Gene3D; 2.30.29.30; Pleckstrin-homology domain (PH domain)/Phosphotyrosine-binding domain (PTB); 1.
DR Gene3D; 1.10.555.10; Rho GTPase activation protein; 1.
DR InterPro; IPR037769; Abr/Bcr.
DR InterPro; IPR037865; ABR_PH.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR035899; DBL_dom_sf.
DR InterPro; IPR000219; DH-domain.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR008936; Rho_GTPase_activation_prot.
DR InterPro; IPR000198; RhoGAP_dom.
DR PANTHER; PTHR23182:SF5; ACTIVE BREAKPOINT CLUSTER REGION-RELATED PROTEIN; 1.
DR PANTHER; PTHR23182; BREAKPOINT CLUSTER REGION PROTEIN BCR; 1.
DR Pfam; PF00168; C2; 1.
DR Pfam; PF19057; PH_19; 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 SUPFAM; SSF49562; C2 domain (Calcium/lipid-binding domain, CaLB); 1.
DR SUPFAM; SSF48065; DBL homology domain (DH-domain); 1.
DR SUPFAM; SSF48350; GTPase activation domain, GAP; 1.
DR SUPFAM; SSF50729; PH domain-like; 1.
DR PROSITE; PS50004; C2; 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 GTPase activation {ECO:0000256|ARBA:ARBA00022468};
KW Guanine-nucleotide releasing factor {ECO:0000256|ARBA:ARBA00022658};
KW Proteomics identification {ECO:0007829|EPD:B7Z683,
KW ECO:0007829|MaxQB:B7Z683};
KW Reference proteome {ECO:0000313|Proteomes:UP000005640}.
FT DOMAIN 17..66
FT /note="DH"
FT /evidence="ECO:0000259|PROSITE:PS50010"
FT DOMAIN 83..241
FT /note="PH"
FT /evidence="ECO:0000259|PROSITE:PS50003"
FT DOMAIN 266..395
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 429..627
FT /note="Rho-GAP"
FT /evidence="ECO:0000259|PROSITE:PS50238"
SQ SEQUENCE 641 AA; 73517 MW; FE84A80387020D68 CRC64;
MEILLIIRFC CNCTYALLYK PIDRVTRSTL VLHDLLKHTP VDHPDYPLLQ DALRISQNFL
SSINEDIDPR RTAVTTPKGE TRQLVKDGFL VEVSESSRKL RHVFLFTDVL LCAKLKKTSA
GKHQQYDCKW YIPLADLVFP SPEESEASPQ VHPFPDHELE DMKMKISALK SEIQKEKANK
GQSRAIERLK KKMFENEFLL LLNSPTIPFR IHNRNGKSYL FLLSSDYERS EWREAIQKLQ
KKDLQAFVLS SVELQVLTGS CFKLRTVHNI PVTSNKDDDE SPGLYGFLHV IVHSAKGFKQ
SANLYCTLEV DSFGYFVSKA KTRVFRDTAE PKWDEEFEIE LEGSQSLRIL CYEKCYDKTK
VNKDNNEIVD KIMGKGQIQL DPQTVETKNW HTDVIEMNGI KVEFSMKFTS RDMSLKRTPS
KKQTGVFGVK ISVVTKRERS KVPYIVRQCV EEVEKRGIEE VGIYRISGVA TDIQALKAVF
DANNKDILLM LSDMDINAIA GTLKLYFREL PEPLLTDRLY PAFMEGIALS DPAAKENCMM
HLLRSLPDPN LITFLFLLEH LKRVAEKEPI NKMSLHNLAT VFGPTLLRPS EVESKAHLTS
AADIWSHDVM AQVQVLLYYL QHPPISFAEL KRNTLYFSTD V
//
