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Q12979 (ABR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Active breakpoint cluster region-related protein
Gene names
Name:ABR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length859 AA.
Sequence statusComplete.
Protein existenceEvidence 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 diversityAlternative splicing
Polymorphism
   Molecular functionGTPase activation
Guanine-nucleotide releasing factor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactin cytoskeleton organization

Inferred from electronic annotation. Source: Ensembl

apoptotic signaling pathway

Traceable author statement. Source: Reactome

brain development

Inferred from electronic annotation. Source: Ensembl

inner ear morphogenesis

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell migration

Inferred from electronic annotation. Source: Ensembl

negative regulation of inflammatory response

Inferred from electronic annotation. Source: Ensembl

negative regulation of neutrophil degranulation

Inferred from electronic annotation. Source: Ensembl

neuromuscular process controlling balance

Inferred from electronic annotation. Source: Ensembl

neurotrophin TRK receptor signaling pathway

Traceable author statement. Source: Reactome

positive regulation of apoptotic process

Traceable author statement. Source: Reactome

positive regulation of phagocytosis

Inferred from electronic annotation. Source: Ensembl

regulation of small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

response to lipopolysaccharide

Inferred from electronic annotation. Source: Ensembl

small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

   Cellular_componentcytosol

Traceable author statement. Source: Reactome

plasma membrane

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionGTPase activator activity

Traceable author statement Ref.1. Source: ProtInc

Rac GTPase activator activity

Inferred from electronic annotation. Source: Ensembl

Rho guanyl-nucleotide exchange factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 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
Isoform 3 (identifier: Q12979-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: MEPLSHRGLP...GPPEGSETMP → MTDVLPQPDC...RVRNKLLRNK
     49-597: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q12979-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 859859Active breakpoint cluster region-related protein
PRO_0000080902

Regions

Domain91 – 284194DH
Domain301 – 459159PH
Domain463 – 595133C2
Domain647 – 845199Rho-GAP
Compositional bias417 – 4204Poly-Leu

Natural variations

Alternative sequence1 – 8282MEPLS…GLAPG → MEEEEEAIGLLDKVLEDEDV FLLEECELGTPTSPGSGSPF LVAVK in isoform Short.
VSP_001815
Alternative sequence1 – 4848MEPLS…SETMP → MTDVLPQPDCSPKAGREPLA LEESGSKRPPNTGARLWGRV RNKLLRNK in isoform 3.
VSP_046029
Alternative sequence1 – 4646Missing in isoform 4.
VSP_046148
Alternative sequence49 – 597549Missing in isoform 3.
VSP_046030
Natural variant5171K → R. Ref.2
Corresponds to variant rs34169260 [ dbSNP | Ensembl ].
VAR_057186

Experimental info

Sequence conflict671G → R in AAC50063. Ref.1
Sequence conflict4831R → K in BAG54051. Ref.2
Sequence conflict6251K → R in BAH13263. Ref.2
Sequence conflict657 – 6604RSKV → VQGA in AAC37519. Ref.3
Sequence conflict7611L → V in AAC37519. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified November 16, 2011. Version 2.
Checksum: 3A5BE3AD2455A194

FASTA85997,598
        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 

« Hide

Isoform Short [UniParc].

Checksum: 2B4632AC57FE8663
Show »

FASTA82293,707
Isoform 3 [UniParc].

Checksum: 23285EBBDBDE2B0E
Show »

FASTA31035,101
Isoform 4 [UniParc].

Checksum: E14F70FFE3A3F5D2
Show »

FASTA81392,425

References

« Hide '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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
Tissue: Hippocampus.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. expand/collapse author list , 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.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), VARIANT ARG-517.
Tissue: Cerebellum and Placenta.
[3]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
Tissue: Fibroblast.
[4]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]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. expand/collapse author list , 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].
[6]"ABR, an active BCR-related gene."
Heisterkamp N., Morris C., Groffen J.
Nucleic Acids Res. 17:8821-8831(1989) [PubMed] [Europe PMC] [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.
AK124547 mRNA. Translation: BAG54051.1.
AK300336 mRNA. Translation: BAH13263.1.
AC015884 Genomic DNA. No translation available.
AC016292 Genomic DNA. No translation available.
AC144836 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.
CCDSCCDS10999.1. [Q12979-1]
CCDS11000.1. [Q12979-2]
CCDS54060.1. [Q12979-4]
CCDS58497.1. [Q12979-3]
PIRA47485.
A49307.
RefSeqNP_001083.2. NM_001092.4. [Q12979-2]
NP_001153218.1. NM_001159746.2. [Q12979-4]
NP_001243776.1. NM_001256847.2. [Q12979-3]
NP_001269078.1. NM_001282149.1.
NP_068781.2. NM_021962.4. [Q12979-1]
UniGeneHs.159306.

3D structure databases

ProteinModelPortalQ12979.
SMRQ12979. Positions 100-414, 660-805.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106547. 6 interactions.
IntActQ12979. 3 interactions.
MINTMINT-7240931.
STRING9606.ENSP00000303909.

PTM databases

PhosphoSiteQ12979.

Polymorphism databases

DMDM357528764.

Proteomic databases

MaxQBQ12979.
PaxDbQ12979.
PRIDEQ12979.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000291107; ENSP00000291107; ENSG00000159842. [Q12979-2]
ENST00000302538; ENSP00000303909; ENSG00000159842. [Q12979-1]
ENST00000543210; ENSP00000445198; ENSG00000159842. [Q12979-3]
ENST00000544583; ENSP00000442048; ENSG00000159842. [Q12979-4]
ENST00000574437; ENSP00000461565; ENSG00000159842. [Q12979-4]
GeneID29.
KEGGhsa:29.
UCSCuc002fsd.4. human. [Q12979-1]
uc002fsg.4. human. [Q12979-2]

Organism-specific databases

CTD29.
GeneCardsGC17M000907.
HGNCHGNC:81. ABR.
HPAHPA053618.
HPA054824.
MIM600365. gene.
neXtProtNX_Q12979.
PharmGKBPA24417.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG267747.
HOGENOMHOG000006779.
HOVERGENHBG004165.
InParanoidQ12979.
OMAWPFLFLV.
OrthoDBEOG7BP81P.
PhylomeDBQ12979.
TreeFamTF105082.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressQ12979.
BgeeQ12979.
CleanExHS_ABR.
GenevestigatorQ12979.

Family and domain databases

Gene3D1.10.555.10. 1 hit.
1.20.900.10. 1 hit.
2.30.29.30. 2 hits.
2.60.40.150. 1 hit.
InterProIPR000008. C2_dom.
IPR000219. DH-domain.
IPR001331. GDS_CDC24_CS.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
[Graphical view]
PfamPF00168. C2. 1 hit.
PF00169. PH. 1 hit.
PF00620. RhoGAP. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTSM00239. C2. 1 hit.
SM00233. PH. 1 hit.
SM00324. RhoGAP. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMSSF48065. SSF48065. 1 hit.
SSF48350. SSF48350. 1 hit.
SSF49562. SSF49562. 1 hit.
PROSITEPS50004. C2. 1 hit.
PS00741. DH_1. 1 hit.
PS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS50238. RHOGAP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSABR. human.
GenomeRNAi29.
NextBio101.
PROQ12979.
SOURCESearch...

Entry information

Entry nameABR_HUMAN
AccessionPrimary (citable) accession number: Q12979
Secondary accession number(s): B3KW89 expand/collapse secondary AC list , B7Z6H7, D3DTH3, D3DTH4, F5H3S2, F5H8B3, Q13693, Q13694
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 16, 2011
Last modified: July 9, 2014
This is version 127 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM