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Reviewed, UniProtKB/Swiss-Prot Q12979 (ABR_HUMAN)

Last modified November 25, 2008. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Active breakpoint cluster region-related protein
Gene names
Name: ABR
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length859 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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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.

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Binary interactions

With

Entry

#Exp.

IntAct

Notes

ABL1P005191EBI-489922,EBI-375543

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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

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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

Experimental info

Sequence conflict671R → G in AAC37518. Ref.2
Sequence conflict657 – 6604RSKV → VQGA in AAC37519. Ref.2
Sequence conflict7611L → V in AAC37519. Ref.2

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Sequences

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

Last modified November 1, 1996. Version 1.
Checksum: 9FD50CD54FA99483

FASTA85997,697
        10         20         30         40         50         60 
MEPLSHRGLP RLSWIDTLYS NFSYGTDEYD GEGNEEQKGP PEGSETMPYI DESPTMSPQL 

        70         80         90        100        110        120 
SARSQGRGDG 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

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Isoform Short [UniParc].

Checksum: 2B4632AC57FE8663
Show »

82293,707

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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].
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 OF 39-859 (ISOFORMS LONG AND SHORT).
Tissue: Fibroblast.
[3]"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 OF 436-597.
+Additional computationally mapped references.

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Cross-references

Sequence databases

U01147 mRNA. Translation: AAC50063.1.
L19704 Unassigned DNA. Translation: AAC37519.1.
L19705 Unassigned DNA. Translation: AAC37518.1. Different initiation.
PIRA47485.
A49307.
RefSeqNP_068781.2.
UniGeneHs.159306

3D structure databases

HSSPHSSP built from PDB template 1F7C based on UniProtKB Q98935.
ModBaseSearch...

Protein-protein interaction databases

IntActQ12979.

PTM databases

PhosphoSiteQ12979.

Genome annotation databases

EnsemblENSG00000159842. Homo sapiens. [Contig view]
GeneID29.
KEGGhsa:29.

Organism-specific databases

H-InvDBHIX0013395.
HGNCHGNC:81. ABR.
MIM600365. gene.
PharmGKBPA24417.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ12979.
HOVERGENQ12979.

Enzyme and pathway databases

ReactomeREACT_11044. Signaling by Rho GTPases.

Gene expression databases

ArrayExpressQ12979.
CleanExHS_ABR.
GermOnlineENSG00000159842. Homo sapiens.

Family and domain databases

InterProIPR000008. C2_Ca-dep.
IPR000219. DH-domain.
IPR001331. GDS_CDC24_CS.
IPR001849. PH.
IPR000198. RhoGAP.
[Graphical view]
Gene3DG3DSA:1.10.555.10. RhoGAP. 1 hit.
G3DSA:1.20.900.10. RhoGEF. 1 hit.
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]
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 Resources

NextBio101.
SOURCESearch...

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Entry information

Entry nameABR_HUMAN
AccessionPrimary (citable) accession number: Q12979
Secondary accession number(s): Q13693, Q13694
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1996
Last modified: November 25, 2008
This is version 71 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 17

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

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents