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Active breakpoint cluster region-related protein

 ABR_HUMAN               Reviewed;         859 AA.
Q12979; B3KW89; B7Z6H7; D3DTH3; D3DTH4; F5H3S2; F5H8B3; Q13693;
Q13694;
15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
16-NOV-2011, sequence version 2.
10-OCT-2018, entry version 172.
RecName: Full=Active breakpoint cluster region-related protein;
Name=ABR;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
TISSUE=Hippocampus;
PubMed=8262969;
Tan E.-C., Leung T., Manser E., Lim L.;
"The human active breakpoint cluster region-related gene encodes a
brain protein with homology to guanine nucleotide exchange proteins
and GTPase-activating proteins.";
J. Biol. Chem. 268:27291-27298(1993).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), AND VARIANT
ARG-517.
TISSUE=Cerebellum, and Placenta;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING.
TISSUE=Fibroblast;
PubMed=8349582;
Heisterkamp N., Kaartinen V., van Soest S., Bokoch G.M., Groffen J.;
"Human ABR encodes a protein with GAPrac activity and homology to the
DBL nucleotide exchange factor domain.";
J. Biol. Chem. 268:16903-16906(1993).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16625196; DOI=10.1038/nature04689;
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
"DNA sequence of human chromosome 17 and analysis of rearrangement in
the human lineage.";
Nature 440:1045-1049(2006).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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., 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.
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 436-597.
PubMed=2587217; DOI=10.1093/nar/17.21.8821;
Heisterkamp N., Morris C., Groffen J.;
"ABR, an active BCR-related gene.";
Nucleic Acids Res. 17:8821-8831(1989).
-!- FUNCTION: GTPase-activating protein for RAC and CDC42. Promotes
the exchange of RAC or CDC42-bound GDP by GTP, thereby activating
them.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=Long;
IsoId=Q12979-1; Sequence=Displayed;
Name=Short;
IsoId=Q12979-2; Sequence=VSP_001815;
Name=3;
IsoId=Q12979-3; Sequence=VSP_046029, VSP_046030;
Note=No experimental confirmation available.;
Name=4;
IsoId=Q12979-4; Sequence=VSP_046148;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Highly enriched in the brain. Much weaker
expression in heart, lung and muscle.
-!- SEQUENCE CAUTION:
Sequence=AAC37518.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; U01147; AAC50063.1; -; mRNA.
EMBL; L19704; AAC37519.1; -; Genomic_DNA.
EMBL; L19705; AAC37518.1; ALT_INIT; Genomic_DNA.
EMBL; AK124547; BAG54051.1; -; mRNA.
EMBL; AK300336; BAH13263.1; -; mRNA.
EMBL; AC015884; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC016292; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC144836; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471108; EAW90631.1; -; Genomic_DNA.
EMBL; CH471108; EAW90633.1; -; Genomic_DNA.
EMBL; CH471108; EAW90634.1; -; Genomic_DNA.
EMBL; CH471108; EAW90635.1; -; Genomic_DNA.
CCDS; CCDS10999.1; -. [Q12979-1]
CCDS; CCDS11000.1; -. [Q12979-2]
CCDS; CCDS54060.1; -. [Q12979-4]
CCDS; CCDS58497.1; -. [Q12979-3]
PIR; A47485; A47485.
PIR; A49307; A49307.
RefSeq; NP_001083.2; NM_001092.4. [Q12979-2]
RefSeq; NP_001153218.1; NM_001159746.2. [Q12979-4]
RefSeq; NP_001243776.1; NM_001256847.2. [Q12979-3]
RefSeq; NP_001269078.1; NM_001282149.1.
RefSeq; NP_001309769.1; NM_001322840.1. [Q12979-4]
RefSeq; NP_068781.2; NM_021962.4. [Q12979-1]
UniGene; Hs.159306; -.
UniGene; Hs.677395; -.
ProteinModelPortal; Q12979; -.
BioGrid; 106547; 15.
IntAct; Q12979; 6.
MINT; Q12979; -.
STRING; 9606.ENSP00000303909; -.
iPTMnet; Q12979; -.
PhosphoSitePlus; Q12979; -.
BioMuta; ABR; -.
DMDM; 357528764; -.
EPD; Q12979; -.
MaxQB; Q12979; -.
PaxDb; Q12979; -.
PeptideAtlas; Q12979; -.
PRIDE; Q12979; -.
ProteomicsDB; 59072; -.
ProteomicsDB; 59073; -. [Q12979-2]
Ensembl; ENST00000291107; ENSP00000291107; ENSG00000159842. [Q12979-2]
Ensembl; ENST00000302538; ENSP00000303909; ENSG00000159842. [Q12979-1]
Ensembl; ENST00000543210; ENSP00000445198; ENSG00000159842. [Q12979-3]
Ensembl; ENST00000544583; ENSP00000442048; ENSG00000159842. [Q12979-4]
Ensembl; ENST00000611009; ENSP00000484030; ENSG00000276016. [Q12979-3]
Ensembl; ENST00000611021; ENSP00000483168; ENSG00000278741. [Q12979-2]
Ensembl; ENST00000612118; ENSP00000481740; ENSG00000278741. [Q12979-1]
Ensembl; ENST00000615642; ENSP00000479455; ENSG00000278741. [Q12979-3]
Ensembl; ENST00000620619; ENSP00000478880; ENSG00000278741. [Q12979-4]
Ensembl; ENST00000625740; ENSP00000486511; ENSG00000276016. [Q12979-2]
Ensembl; ENST00000627258; ENSP00000486214; ENSG00000278741. [Q12979-4]
GeneID; 29; -.
KEGG; hsa:29; -.
UCSC; uc002fsd.6; human. [Q12979-1]
CTD; 29; -.
DisGeNET; 29; -.
EuPathDB; HostDB:ENSG00000159842.14; -.
GeneCards; ABR; -.
HGNC; HGNC:81; ABR.
HPA; HPA053618; -.
HPA; HPA054824; -.
MIM; 600365; gene.
neXtProt; NX_Q12979; -.
OpenTargets; ENSG00000159842; -.
PharmGKB; PA24417; -.
eggNOG; KOG4269; Eukaryota.
eggNOG; ENOG410XPGZ; LUCA.
GeneTree; ENSGT00920000148945; -.
HOGENOM; HOG000006779; -.
HOVERGEN; HBG004165; -.
InParanoid; Q12979; -.
KO; K20629; -.
OrthoDB; EOG091G03M3; -.
PhylomeDB; Q12979; -.
TreeFam; TF105082; -.
Reactome; R-HSA-193648; NRAGE signals death through JNK.
Reactome; R-HSA-194840; Rho GTPase cycle.
Reactome; R-HSA-416482; G alpha (12/13) signalling events.
ChiTaRS; ABR; human.
GenomeRNAi; 29; -.
PRO; PR:Q12979; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000159842; Expressed in 231 organ(s), highest expression level in frontal cortex.
CleanEx; HS_ABR; -.
ExpressionAtlas; Q12979; baseline and differential.
Genevisible; Q12979; HS.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl.
GO; GO:0016020; C:membrane; HDA:UniProtKB.
GO; GO:0005886; C:plasma membrane; IEA:Ensembl.
GO; GO:0098685; C:Schaffer collateral - CA1 synapse; IEA:Ensembl.
GO; GO:0005096; F:GTPase activator activity; IBA:GO_Central.
GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; TAS:Reactome.
GO; GO:0005089; F:Rho guanyl-nucleotide exchange factor activity; TAS:Reactome.
GO; GO:0030036; P:actin cytoskeleton organization; IEA:Ensembl.
GO; GO:0007420; P:brain development; IEA:Ensembl.
GO; GO:0007186; P:G-protein coupled receptor signaling pathway; TAS:Reactome.
GO; GO:0042472; P:inner ear morphogenesis; IEA:Ensembl.
GO; GO:0050804; P:modulation of chemical synaptic transmission; IEA:Ensembl.
GO; GO:0060313; P:negative regulation of blood vessel remodeling; IEA:Ensembl.
GO; GO:0002692; P:negative regulation of cellular extravasation; IEA:Ensembl.
GO; GO:0050728; P:negative regulation of inflammatory response; IEA:Ensembl.
GO; GO:0043314; P:negative regulation of neutrophil degranulation; IEA:Ensembl.
GO; GO:0050885; P:neuromuscular process controlling balance; IEA:Ensembl.
GO; GO:0043065; P:positive regulation of apoptotic process; TAS:Reactome.
GO; GO:0043547; P:positive regulation of GTPase activity; IBA:GO_Central.
GO; GO:0050766; P:positive regulation of phagocytosis; IEA:Ensembl.
GO; GO:0035023; P:regulation of Rho protein signal transduction; IEA:InterPro.
GO; GO:0051056; P:regulation of small GTPase mediated signal transduction; TAS:Reactome.
GO; GO:0043114; P:regulation of vascular permeability; IEA:Ensembl.
GO; GO:0032496; P:response to lipopolysaccharide; IEA:Ensembl.
GO; GO:0007264; P:small GTPase mediated signal transduction; TAS:ProtInc.
CDD; cd13366; PH_ABR; 1.
CDD; cd00160; RhoGEF; 1.
Gene3D; 1.10.555.10; -; 1.
Gene3D; 1.20.900.10; -; 1.
Gene3D; 2.60.40.150; -; 1.
InterPro; IPR037769; Abr/Bcr.
InterPro; IPR037865; ABR_PH.
InterPro; IPR000008; C2_dom.
InterPro; IPR035892; C2_domain_sf.
InterPro; IPR035899; DBL_dom_sf.
InterPro; IPR000219; DH-domain.
InterPro; IPR001331; GDS_CDC24_CS.
InterPro; IPR001849; PH_domain.
InterPro; IPR008936; Rho_GTPase_activation_prot.
InterPro; IPR000198; RhoGAP_dom.
PANTHER; PTHR23182; PTHR23182; 1.
Pfam; PF00168; C2; 1.
Pfam; PF00169; PH; 1.
Pfam; PF00620; RhoGAP; 1.
Pfam; PF00621; RhoGEF; 1.
SMART; SM00239; C2; 1.
SMART; SM00233; PH; 1.
SMART; SM00324; RhoGAP; 1.
SMART; SM00325; RhoGEF; 1.
SUPFAM; SSF48065; SSF48065; 1.
SUPFAM; SSF48350; SSF48350; 1.
PROSITE; PS50004; C2; 1.
PROSITE; PS00741; DH_1; 1.
PROSITE; PS50010; DH_2; 1.
PROSITE; PS50003; PH_DOMAIN; 1.
PROSITE; PS50238; RHOGAP; 1.
2: Evidence at transcript level;
Alternative splicing; Complete proteome; GTPase activation;
Guanine-nucleotide releasing factor; Phosphoprotein; Polymorphism;
Reference proteome.
CHAIN 1 859 Active breakpoint cluster region-related
protein.
/FTId=PRO_0000080902.
DOMAIN 91 284 DH. {ECO:0000255|PROSITE-
ProRule:PRU00062}.
DOMAIN 301 459 PH. {ECO:0000255|PROSITE-
ProRule:PRU00145}.
DOMAIN 463 595 C2. {ECO:0000255|PROSITE-
ProRule:PRU00041}.
DOMAIN 647 845 Rho-GAP. {ECO:0000255|PROSITE-
ProRule:PRU00172}.
COMPBIAS 417 420 Poly-Leu.
MOD_RES 57 57 Phosphoserine.
{ECO:0000250|UniProtKB:Q5SSL4}.
VAR_SEQ 1 82 MEPLSHRGLPRLSWIDTLYSNFSYGTDEYDGEGNEEQKGPP
EGSETMPYIDESPTMSPQLSARSQGGGDGVSPTPPEGLAPG
-> MEEEEEAIGLLDKVLEDEDVFLLEECELGTPTSPGSGS
PFLVAVK (in isoform Short).
{ECO:0000305}.
/FTId=VSP_001815.
VAR_SEQ 1 48 MEPLSHRGLPRLSWIDTLYSNFSYGTDEYDGEGNEEQKGPP
EGSETMP -> MTDVLPQPDCSPKAGREPLALEESGSKRPP
NTGARLWGRVRNKLLRNK (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_046029.
VAR_SEQ 1 46 Missing (in isoform 4).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_046148.
VAR_SEQ 49 597 Missing (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_046030.
VARIANT 517 517 K -> R (in dbSNP:rs34169260).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_057186.
CONFLICT 67 67 G -> R (in Ref. 1; AAC50063).
{ECO:0000305}.
CONFLICT 483 483 R -> K (in Ref. 2; BAG54051).
{ECO:0000305}.
CONFLICT 625 625 K -> R (in Ref. 2; BAH13263).
{ECO:0000305}.
CONFLICT 657 660 RSKV -> VQGA (in Ref. 3; AAC37519).
{ECO:0000305}.
CONFLICT 761 761 L -> V (in Ref. 3; AAC37519).
{ECO:0000305}.
SEQUENCE 859 AA; 97598 MW; 3A5BE3AD2455A194 CRC64;
MEPLSHRGLP RLSWIDTLYS NFSYGTDEYD GEGNEEQKGP PEGSETMPYI DESPTMSPQL
SARSQGGGDG 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


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