ENSG00000105393


Homo sapiens
dnaBABAM1repaircomplexdouble-strandbreakdamageproteinbriscbrca-anonhomologousresponsecelldeubiquitinationgcheckpointmembervonwillebrandfactora-likedomainsuperfamilyviaendjoiningchromatinorganizationcellularstimulus

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)
nitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimuluscellular component organizationcell cycleresponse to abiotic stimuluscell divisioncell communicationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimuluscellular component organizationcell cycleresponse to abiotic stimuluscell divisioncell communicationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimuluscellular component organizationcell cycleresponse to abiotic stimuluscell divisioncell communicationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimuluscellular component organizationcell cycleresponse to abiotic stimuluscell divisioncell communicationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimuluscellular component organizationcell cycleresponse to abiotic stimuluscell divisioncell communicationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimuluscellular component organizationcell cycleresponse to abiotic stimuluscell divisioncell communicationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimuluscellular component organizationcell cycleresponse to abiotic stimuluscell divisioncell communicationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimuluscellular component organizationcell cycleresponse to abiotic stimuluscell divisioncell communicationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimuluscellular component organizationcell cycleresponse to abiotic stimuluscell divisioncell communicationnitrogen compound metabolic processresponse to stresscellular metabolic processprimary metabolic processorganic substance metabolic processcellular response to stimuluscellular component organizationcell cycleresponse to abiotic stimuluscell divisioncell communicationnitrogen comnitrogen compound metabolic processresponse to response to stresscellular metcellular metabolic processprimary metaprimary metabolic processorganic subsorganic substance metabolic processcellular rescellular response to stimuluscellular comcellular component organizationcell cyclecell cycleresponse to response to abiotic stimuluscell divisiocell divisioncell communicell communication
protein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein binding
cellorganellemembrane-enclosed lumenprotein-containing complexcellorganellemembrane-enclosed lumenprotein-containing complexcellorganellemembrane-enclosed lumenprotein-containing complexcellorganellemembrane-enclosed lumenprotein-containing complexcellorganellemembrane-enclosed lumenprotein-containing complexcellorganellemembrane-enclosed lumenprotein-containing complexcellorganellemembrane-enclosed lumenprotein-containing complexcellorganellemembrane-enclosed lumenprotein-containing complexcellorganellemembrane-enclosed lumenprotein-containing complexcellorganellemembrane-enclosed lumenprotein-containing complexcellcellorganelleorganellemembrane-enclosed lumenmembrane-enclosed lumenprotein-containing complexprotein-containing complex
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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