Q12979 (ABR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Active breakpoint cluster region-related protein

Gene names

Name:

ABR

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	859 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them.
Tissue specificity	Highly enriched in the brain. Much weaker expression in heart, lung and muscle.
Sequence similarities	Contains 1 C2 domain. Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Contains 1 Rho-GAP domain.
Sequence caution	The sequence AAC37518.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	GTPase activation Guanine-nucleotide releasing factor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	apoptotic process Traceable author statement. Source: Reactome induction of apoptosis by extracellular signals Traceable author statement. Source: Reactome nerve growth factor receptor signaling pathway Traceable author statement. Source: Reactome small GTPase mediated signal transduction Traceable author statement. Source: Reactome
Cellular component	cytosol Traceable author statement. Source: Reactome
Molecular function	Rho guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Long (identifier: Q12979-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform Short (identifier: Q12979-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-82: MEPLSHRGLP...PTPPEGLAPG → MEEEEEAIGL...SGSPFLVAVK

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 859	859	Active breakpoint cluster region-related protein		PRO_0000080902
Regions
	Domain	91 – 284	194	DH
	Domain	301 – 459	159	PH
	Domain	463 – 595	133	C2
	Domain	647 – 845	199	Rho-GAP
	Compositional bias	417 – 420	4	Poly-Leu
Natural variations
	Alternative sequence	1 – 82	82	MEPLS…GLAPG → MEEEEEAIGLLDKVLEDEDV FLLEECELGTPTSPGSGSPF LVAVK in isoform Short.		VSP_001815
	Natural variant	517	1	K → R. Corresponds to variant rs34169260 [ dbSNP | Ensembl ].		VAR_057186
Experimental info
	Sequence conflict	67	1	G → R in AAC50063. Ref.1
	Sequence conflict	657 – 660	4	RSKV → VQGA in AAC37519. Ref.2
	Sequence conflict	761	1	L → V in AAC37519. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified November 16, 2011. Version 2. Checksum: 3A5BE3AD2455A194	FASTA	859	97,598
	10 20 30 40 50 60 MEPLSHRGLP RLSWIDTLYS NFSYGTDEYD GEGNEEQKGP PEGSETMPYI DESPTMSPQL 70 80 90 100 110 120 SARSQGGGDG VSPTPPEGLA PGVEAGKGLE MRKLVLSGFL ASEEIYINQL EALLLPMKPL 130 140 150 160 170 180 KATATTSQPV LTIQQIETIF YKIQDIYEIH KEFYDNLCPK VQQWDSQVTM GHLFQKLASQ 190 200 210 220 230 240 LGVYKAFVDN YKVALETAEK CSQSNNQFQK ISEELKVKGP KDSKDSHTSV TMEALLYKPI 250 260 270 280 290 300 DRVTRSTLVL HDLLKHTPVD HPDYPLLQDA LRISQNFLSS INEDIDPRRT AVTTPKGETR 310 320 330 340 350 360 QLVKDGFLVE VSESSRKLRH VFLFTDVLLC AKLKKTSAGK HQQYDCKWYI PLADLVFPSP 370 380 390 400 410 420 EESEASPQVH PFPDHELEDM KMKISALKSE IQKEKANKGQ SRAIERLKKK MFENEFLLLL 430 440 450 460 470 480 NSPTIPFRIH NRNGKSYLFL LSSDYERSEW REAIQKLQKK DLQAFVLSSV ELQVLTGSCF 490 500 510 520 530 540 KLRTVHNIPV TSNKDDDESP GLYGFLHVIV HSAKGFKQSA NLYCTLEVDS FGYFVSKAKT 550 560 570 580 590 600 RVFRDTAEPK WDEEFEIELE GSQSLRILCY EKCYDKTKVN KDNNEIVDKI MGKGQIQLDP 610 620 630 640 650 660 QTVETKNWHT DVIEMNGIKV EFSMKFTSRD MSLKRTPSKK QTGVFGVKIS VVTKRERSKV 670 680 690 700 710 720 PYIVRQCVEE VEKRGIEEVG IYRISGVATD IQALKAVFDA NNKDILLMLS DMDINAIAGT 730 740 750 760 770 780 LKLYFRELPE PLLTDRLYPA FMEGIALSDP AAKENCMMHL LRSLPDPNLI TFLFLLEHLK 790 800 810 820 830 840 RVAEKEPINK MSLHNLATVF GPTLLRPSEV ESKAHLTSAA DIWSHDVMAQ VQVLLYYLQH 850 PPISFAELKR NTLYFSTDV
	Isoform Short [UniParc]. Checksum: 2B4632AC57FE8663	FASTA	822	93,707
	10 20 30 40 50 60 MEEEEEAIGL LDKVLEDEDV FLLEECELGT PTSPGSGSPF LVAVKVEAGK GLEMRKLVLS 70 80 90 100 110 120 GFLASEEIYI NQLEALLLPM KPLKATATTS QPVLTIQQIE TIFYKIQDIY EIHKEFYDNL 130 140 150 160 170 180 CPKVQQWDSQ VTMGHLFQKL ASQLGVYKAF VDNYKVALET AEKCSQSNNQ FQKISEELKV 190 200 210 220 230 240 KGPKDSKDSH TSVTMEALLY KPIDRVTRST LVLHDLLKHT PVDHPDYPLL QDALRISQNF 250 260 270 280 290 300 LSSINEDIDP RRTAVTTPKG ETRQLVKDGF LVEVSESSRK LRHVFLFTDV LLCAKLKKTS 310 320 330 340 350 360 AGKHQQYDCK WYIPLADLVF PSPEESEASP QVHPFPDHEL EDMKMKISAL KSEIQKEKAN 370 380 390 400 410 420 KGQSRAIERL KKKMFENEFL LLLNSPTIPF RIHNRNGKSY LFLLSSDYER SEWREAIQKL 430 440 450 460 470 480 QKKDLQAFVL SSVELQVLTG SCFKLRTVHN IPVTSNKDDD ESPGLYGFLH VIVHSAKGFK 490 500 510 520 530 540 QSANLYCTLE VDSFGYFVSK AKTRVFRDTA EPKWDEEFEI ELEGSQSLRI LCYEKCYDKT 550 560 570 580 590 600 KVNKDNNEIV DKIMGKGQIQ LDPQTVETKN WHTDVIEMNG IKVEFSMKFT SRDMSLKRTP 610 620 630 640 650 660 SKKQTGVFGV KISVVTKRER SKVPYIVRQC VEEVEKRGIE EVGIYRISGV ATDIQALKAV 670 680 690 700 710 720 FDANNKDILL MLSDMDINAI AGTLKLYFRE LPEPLLTDRL YPAFMEGIAL SDPAAKENCM 730 740 750 760 770 780 MHLLRSLPDP NLITFLFLLE HLKRVAEKEP INKMSLHNLA TVFGPTLLRP SEVESKAHLT 790 800 810 820 SAADIWSHDV MAQVQVLLYY LQHPPISFAE LKRNTLYFST DV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human active breakpoint cluster region-related gene encodes a brain protein with homology to guanine nucleotide exchange proteins and GTPase-activating proteins." Tan E.-C., Leung T., Manser E., Lim L. J. Biol. Chem. 268:27291-27298(1993) [PubMed: 8262969] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG). Tissue: Hippocampus.
[2]	"Human ABR encodes a protein with GAPrac activity and homology to the DBL nucleotide exchange factor domain." Heisterkamp N., Kaartinen V., van Soest S., Bokoch G.M., Groffen J. J. Biol. Chem. 268:16903-16906(1993) [PubMed: 8349582] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING. Tissue: Fibroblast.
[3]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." 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. Nature 440:1045-1049(2006) [PubMed: 16625196] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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 Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"ABR, an active BCR-related gene." Heisterkamp N., Morris C., Groffen J. Nucleic Acids Res. 17:8821-8831(1989) [PubMed: 2587217] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 436-597.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U01147 mRNA. Translation: AAC50063.1. L19704 Genomic DNA. Translation: AAC37519.1. L19705 Genomic DNA. Translation: AAC37518.1. Different initiation. AC015884 Genomic DNA. No translation available. AC016292 Genomic DNA. No translation available. CH471108 Genomic DNA. Translation: EAW90631.1. CH471108 Genomic DNA. Translation: EAW90633.1. CH471108 Genomic DNA. Translation: EAW90634.1. CH471108 Genomic DNA. Translation: EAW90635.1.
IPI	IPI00030389. IPI00298955.
PIR	A47485. A49307.
RefSeq	NP_001083.2. NM_001092.3. NP_068781.2. NM_021962.2.
UniGene	Hs.159306.
3D structure databases
ProteinModelPortal	Q12979.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q12979. 2 interactions.
MINT	MINT-7240931.
STRING	Q12979.
PTM databases
PhosphoSite	Q12979.
Polymorphism databases
DMDM	5915668.
Proteomic databases
PRIDE	Q12979.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000302538; ENSP00000303909; ENSG00000159842.
GeneID	29.
KEGG	hsa:29.
UCSC	uc002fsd.1. human. uc002fsg.1. human.
Organism-specific databases
CTD	29.
GeneCards	GC17M000907.
H-InvDB	HIX0013395.
HGNC	HGNC:81. ABR.
MIM	600365. gene.
neXtProt	NX_Q12979.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11850.
GeneTree	ENSGT00600000084231.
HOGENOM	HBG446960.
HOVERGEN	HBG004165.
InParanoid	Q12979.
OrthoDB	EOG476JZJ.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction.
Gene expression databases
ArrayExpress	Q12979.
Bgee	Q12979.
CleanEx	HS_ABR.
Genevestigator	Q12979.
GermOnline	ENSG00000159842. Homo sapiens.
Family and domain databases
InterPro	IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR018029. C2_membr_targeting. IPR000219. DH-domain. IPR001331. GDS_CDC24_CS. IPR011993. PH_type. IPR001849. Pleckstrin_homology. IPR008936. Rho_GTPase_activation_prot. IPR000198. RhoGAP_dom. [Graphical view]
Gene3D	G3DSA:2.30.29.30. PH_type. 2 hits. G3DSA:1.10.555.10. RhoGAP. 1 hit. G3DSA:1.20.900.10. RhoGEF. 1 hit.
Pfam	PF00168. C2. 1 hit. PF00169. PH. 1 hit. PF00620. RhoGAP. 1 hit. PF00621. RhoGEF. 1 hit. [Graphical view]
SMART	SM00239. C2. 1 hit. SM00233. PH. 1 hit. SM00324. RhoGAP. 1 hit. SM00325. RhoGEF. 1 hit. [Graphical view]
SUPFAM	SSF49562. C2_CaLB. 1 hit. SSF48065. DH-domain. 1 hit. SSF48350. Rho_GAP. 1 hit.
PROSITE	PS50004. C2. 1 hit. PS00741. DH_1. 1 hit. PS50010. DH_2. 1 hit. PS50003. PH_DOMAIN. 1 hit. PS50238. RHOGAP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	101.
SOURCE	Search...

Entry information

Entry name

ABR_HUMAN

Accession

Primary (citable) accession number: Q12979
Secondary accession number(s): D3DTH3 , D3DTH4, Q13693, Q13694

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	November 16, 2011
Last modified:	January 25, 2012
This is version 101 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.