ENSG00000163322


Homo sapiens

Features
Gene ID: ENSG00000163322
  
Biological name :ABRAXAS1
  
Synonyms : ABRAXAS1 / abraxas 1, BRCA1 A complex subunit / Q6UWZ7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q21.23
Gene start: 83459517
Gene end: 83523348
  
Corresponding Affymetrix probe sets: 226521_s_at (Human Genome U133 Plus 2.0 Array)   233543_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000421068
Ensembl peptide - ENSP00000369857
Ensembl peptide - ENSP00000482434
Ensembl peptide - ENSP00000481099
Ensembl peptide - ENSP00000480277
Ensembl peptide - ENSP00000426763
Ensembl peptide - ENSP00000426080
Ensembl peptide - ENSP00000421876
NCBI entrez gene - 84142     See in Manteia.
OMIM - 611143
RefSeq - XM_017008694
RefSeq - NM_001345962
RefSeq - NM_139076
RefSeq - XM_005263280
RefSeq Peptide - NP_620775
RefSeq Peptide - NP_001332891
swissprot - A0A087WWJ9
swissprot - Q6UWZ7
swissprot - E9PHB9
swissprot - D6RHI5
swissprot - D6REL5
swissprot - A0A087WZ78
swissprot - D6RAN3
swissprot - A0A087WXK1
Ensembl - ENSG00000163322
  
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
 Q1LVP6ENSDARG00000043339Danio rerio
 FAM175AENSGALG00000011210Gallus gallus
 Q8BPZ8ENSMUSG00000035234Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q15018 / ABRAXAS2 / abraxas 2, BRISC complex subunitENSG0000016566029


Protein motifs (from Interpro)
Interpro ID Name
 IPR023238  FAM175 family
 IPR023239  FAM175 family, BRCA1-A complex, Abraxas 1 subunit
 IPR037518  MPN domain


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:0010212 response to ionizing radiation IMP
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0045739 positive regulation of DNA repair IMP
 biological_processGO:0072425 signal transduction involved in G2 DNA damage checkpoint IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0070531 BRCA1-A complex IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031593 polyubiquitin modification-dependent protein binding IDA


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
 ENSG00000163961 Q8IYW5 / RNF168 / ring finger protein 168  / reaction / complex
 ENSG00000188486 H2AFX / P16104 / H2A histone family member X  / complex / reaction
 ENSG00000169139 Q15819 / UBE2V2 / ubiquitin conjugating enzyme E2 V2  / complex / reaction
 ENSG00000113522 RAD50 / Q92878 / RAD50 double strand break repair protein  / complex / reaction
 ENSG00000104320 NBN / nibrin / O60934  / reaction / complex
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / reaction / complex
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / reaction / complex
 ENSG00000172977 KAT5 / Q92993 / lysine acetyltransferase 5  / reaction / complex
 ENSG00000020922 MRE11 / P49959 / MRE11 homolog, double strand break repair nuclease  / reaction / complex
 ENSG00000087206 UIMC1 / Q96RL1 / ubiquitin interaction motif containing 1  / complex / reaction
 ENSG00000112130 RNF8 / O76064 / ring finger protein 8  / reaction / complex
 ENSG00000137337 MDC1 / Q14676 / mediator of DNA damage checkpoint 1  / reaction / complex
 ENSG00000168148 Q16695 / HIST3H3 / histone cluster 3 H3  / reaction / complex
 ENSG00000109685 NSD2 / O96028 / nuclear receptor binding SET domain protein 2  / reaction / complex
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000128731 HERC2 / O95714 / HECT and RLD domain containing E3 ubiquitin protein ligase 2  / reaction / complex
 ENSG00000067369 Q12888 / TP53BP1 / tumor protein p53 binding protein 1  / reaction / complex
 ENSG00000105229 PIAS4 / Q8N2W9 / protein inhibitor of activated STAT 4  / reaction / complex
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / complex / reaction






 

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