ABR | GeneID:29 | Homo sapiens

Gene Summary

[ - ] NCBI Entrez Gene

Gene ID 29 Official Symbol ABR
Locus N/A Gene Type protein-coding
Synonyms FLJ45954; MDB
Full Name active BCR-related gene
Description active BCR-related gene
Chromosome 17p13.3
Also Known As active breakpoint cluster region-related protein
Summary This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis, suggesting that Rho-related GTPases help coordinate motor skills and balance. Alternatively spliced transcript variants that encode different isoforms have been reported for this gene. [provided by RefSeq]

Orthologs and Paralogs

[ - ] Homologs - NCBI's HomoloGene Group: 11081

ID Symbol Protein Species
GeneID:29 ABR NP_068781.2 Homo sapiens
GeneID:109934 Abr NP_942598.1 Mus musculus
GeneID:287537 Abr XP_220717.3 Rattus norvegicus
GeneID:454407 ABR XP_529818.2 Pan troglodytes
GeneID:480638 ABR XP_854321.1 Canis lupus familiaris
GeneID:1277379 AgaP_AGAP000865 XP_316836.2 Anopheles gambiae
GeneID:5740235 RhoGAP1A NP_001096856.1 Drosophila melanogaster

Antibodies

[ - ] Monoclonal and Polyclonal Antibodies

No. Provider Product No. Description
1 abcam ab27473 ABR antibody (ab27473); Goat polyclonal to ABR
2 scbt ABR ABR Antibody / ABR Antibodies;

Exon, Intron and UTRs

Exon, Intron and UTRs of ABR Gene Transcript Isoforms

CpG near TSS

CpG dinucleotides near Transcription Start Site of ABR Gene

Gene Classification

[ - ] Gene Ontology

IDCategoryGO Term
GO:0005622 Component intracellular
GO:0005096 Function GTPase activator activity
GO:0005085 Function guanyl-nucleotide exchange factor activity
GO:0005515 Function protein binding
GO:0005089 Function Rho guanyl-nucleotide exchange factor activity
GO:0035023 Process regulation of Rho protein signal transduction
GO:0007264 Process small GTPase mediated signal transduction

RefSeq Isoforms

[ - ] RefSeq Annotation and UniProt Database

No. RefSeq RNA RefSeq Protein UniProt Equivalent
1 NM_001092  UCSC Browser NP_001083
2 NM_001159746  UCSC Browser NP_001153218
3 NM_021962  UCSC Browser NP_068781

Transcript Sequences

[ - ] Transcript Accession Number Cloud [ GenBank ]

Protein Sequences

[ - ] Protein Accession Number Cloud [ GenPept ]

Mutations and SNPs

[ - ] NCBI's dbSNP

Phenotypes

[ - ] Genes and Diseases - MIM at NCBI

Chemicals and Drugs

[ - ] Comparative Toxicogenomics Database from MDI Biological Lab

Curated [chemical–gene interactions|chemical–disease|gene–disease] data were retrieved from the Comparative Toxicogenomics Database (CTD), Mount Desert Island Biological Laboratory, Salisbury Cove, Maine. World Wide Web (URL: http://ctd.mdibl.org/). [Jan. 2009].
Chemical and Interaction
tert-Butylhydroperoxide
  • tert-Butylhydroperoxide results in increased expression of ABR mRNA
15003993

Gene and Diseases

[ - ] Gene and Diseases [Data source: CTD]

Curated [chemical–gene interactions|chemical–disease|gene–disease] data were retrieved from the Comparative Toxicogenomics Database (CTD), Mount Desert Island Biological Laboratory, Salisbury Cove, Maine. World Wide Web (URL: http://ctd.mdibl.org/). [Jan. 2009].
Disease Name Relationship PubMed
Medulloblastoma marker

Transcript Cluster

[ - ] NCBI's UniGene

Selected Publications

[ - ] Gene-related publications indexed at PubMed

  1. [ + ] Wu C, et al. (2007) "Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening." Proteomics. 7(11):1775-1785. PMID:17474147
  2. [ + ] Zhang T, et al. (2004) "Yeast two-hybrid screening for proteins that interact with alpha1-adrenergic receptors." Acta Pharmacol Sin. 25(11):1471-1478. PMID:15525470
  3. [ + ] Ota T, et al. (2004) "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat Genet. 36(1):40-45. PMID:14702039
  4. [ + ] Cardoso C, et al. (2003) "Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3." Am J Hum Genet. 72(4):918-930. PMID:12621583
  5. [ + ] Kaartinen V, et al. (2002) "Vestibular dysgenesis in mice lacking Abr and Bcr Cdc42/RacGAPs." Dev Dyn. 223(4):517-525. PMID:11921339
  6. [ + ] Bonaldo MF, et al. (1996) "Normalization and subtraction: two approaches to facilitate gene discovery." Genome Res. 6(9):791-806. PMID:8889548
  7. [ + ] Chuang TH, et al. (1995) "Abr and Bcr are multifunctional regulators of the Rho GTP-binding protein family." Proc Natl Acad Sci U S A. 92(22):10282-10286. PMID:7479768
  8. [ + ] McDonald JD, et al. (1994) "Physical mapping of chromosome 17p13.3 in the region of a putative tumor suppressor gene important in medulloblastoma." Genomics. 23(1):229-232. PMID:7829075
  9. [ + ] Heisterkamp N, et al. (1993) "Human ABR encodes a protein with GAPrac activity and homology to the DBL nucleotide exchange factor domain." J Biol Chem. 268(23):16903-16906. PMID:8349582
  10. [ + ] Tan EC, et al. (1993) "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(36):27291-27298. PMID:8262969
  11. [ + ] Heisterkamp N, et al. (1989) "ABR, an active BCR-related gene." Nucleic Acids Res. 17(21):8821-8831. PMID:2587217