ENSG00000105393


Homo sapiens

Features
Gene ID: ENSG00000105393
  
Biological name :BABAM1
  
Synonyms : BABAM1 / BRISC and BRCA1 A complex member 1 / Q9NWV8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.11
Gene start: 17267350
Gene end: 17281249
  
Corresponding Affymetrix probe sets: 221711_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000470920
Ensembl peptide - ENSP00000471246
Ensembl peptide - ENSP00000471605
Ensembl peptide - ENSP00000471721
Ensembl peptide - ENSP00000472585
Ensembl peptide - ENSP00000472632
Ensembl peptide - ENSP00000473182
Ensembl peptide - ENSP00000473240
Ensembl peptide - ENSP00000352408
Ensembl peptide - ENSP00000407826
Ensembl peptide - ENSP00000468834
Ensembl peptide - ENSP00000469527
Ensembl peptide - ENSP00000470088
Ensembl peptide - ENSP00000470295
Ensembl peptide - ENSP00000472425
NCBI entrez gene - 29086     See in Manteia.
OMIM - 612766
RefSeq - NM_001288757
RefSeq - NM_014173
RefSeq - NM_001033549
RefSeq - NM_001288756
RefSeq Peptide - NP_001275686
RefSeq Peptide - NP_054892
RefSeq Peptide - NP_001275685
RefSeq Peptide - NP_001028721
swissprot - Q9NWV8
swissprot - A0A024R7L2
swissprot - J3KQS6
swissprot - M0QXG9
swissprot - M0QYV1
swissprot - M0QZ44
swissprot - M0R0I0
swissprot - M0R193
swissprot - M0R2A4
swissprot - M0R2I2
swissprot - M0R2K3
swissprot - M0R3F4
swissprot - M0R3H9
Ensembl - ENSG00000105393
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 babam1ENSDARG00000077526Danio rerio
 ENSGALG00000038189Gallus gallus
 Babam1ENSMUSG00000031820Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC010463.1ENSG0000026930730


Protein motifs (from Interpro)
Interpro ID Name
 IPR026126  BRISC and BRCA1-A complex member 1
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006302 double-strand break repair IMP
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining TAS
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0010212 response to ionizing radiation IMP
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0045739 positive regulation of DNA repair IEA
 biological_processGO:0051301 cell division IEA
 biological_processGO:0070536 protein K63-linked deubiquitination IMP
 biological_processGO:0072425 signal transduction involved in G2 DNA damage checkpoint IMP
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0070531 BRCA1-A complex IEA
 cellular_componentGO:0070552 BRISC complex IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Metalloprotease DUBs
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
Processing of DNA double-strand break ends
G2/M DNA damage checkpoint


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000162711 NLRP3 / Q96P20 / NLR family pyrin domain containing 3  / complex
 ENSG00000158019 BABAM2 / Q9NXR7 / BRISC and BRCA1 A complex member 2  / complex
 ENSG00000165660 Q15018 / ABRAXAS2 / abraxas 2, BRISC complex subunit  / complex
 ENSG00000185515 BRCC3 / P46736 / BRCA1/BRCA2-containing complex subunit 3  / complex






 

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