ENSG00000187736


Homo sapiens

Features
Gene ID: ENSG00000187736
  
Biological name :NHEJ1
  
Synonyms : NHEJ1 / non-homologous end joining factor 1 / Q9H9Q4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q35
Gene start: 219075317
Gene end: 219160865
  
Corresponding Affymetrix probe sets: 219418_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000349313
Ensembl peptide - ENSP00000407201
Ensembl peptide - ENSP00000408966
Ensembl peptide - ENSP00000408421
Ensembl peptide - ENSP00000387290
Ensembl peptide - ENSP00000394896
NCBI entrez gene - 79840     See in Manteia.
OMIM - 611290
RefSeq - NM_024782
RefSeq Peptide - NP_079058
swissprot - G5E9Q8
swissprot - C9JWV4
swissprot - Q9H9Q4
swissprot - H7C0G7
swissprot - F8WEB8
Ensembl - ENSG00000187736
  
Related genetic diseases (OMIM): 611291 - Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291
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
 nhej1ENSDARG00000058893Danio rerio
 ENSGALG00000011335Gallus gallus
 Nhej1ENSMUSG00000026162Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR009089  XRCC4, N-terminal domain superfamily
 IPR015381  XLF family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006302 double-strand break repair IEA
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining TAS
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007417 central nervous system development NAS
 biological_processGO:0010212 response to ionizing radiation IDA
 biological_processGO:0030183 B cell differentiation IMP
 biological_processGO:0030217 T cell differentiation IMP
 biological_processGO:0051351 positive regulation of ligase activity NAS
 cellular_componentGO:0001650 fibrillar center IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0032807 DNA ligase IV complex IBA
 cellular_componentGO:0070419 nonhomologous end joining complex IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0045027 DNA end binding IBA


Pathways (from Reactome)
Pathway description
Nonhomologous End-Joining (NHEJ)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000320 Bird-like facies 
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 HP:0000340 Sloping forehead "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators]
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 HP:0000414 Bulbous nose 
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 HP:0000444 Beaked nose 
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 HP:0001510 Growth retardation 
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 HP:0001873 Thrombocytopenia 
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 HP:0001903 Anemia 
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 HP:0002718 Recurrent bacterial infections 
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 HP:0002721 Immunodeficiency 
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 HP:0002960 Autoimmune disease 
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 HP:0004313 Reduced immunoglobulin levels 
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 HP:0004429 Recurrent viral infections 
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 HP:0005403 Reduced number of T cells 
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 HP:0010976 Reduction in B cell number "An abnormal decrease from the normal count of `B cells` (CL:0000236)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000174405 LIG4 / P49917 / DNA ligase 4  / reaction
 ENSG00000253729 PRKDC / P78527 / protein kinase, DNA-activated, catalytic polypeptide  / reaction
 ENSG00000196419 XRCC6 / P12956 / X-ray repair cross complementing 6  / reaction
 ENSG00000187736 NHEJ1 / Q9H9Q4 / non-homologous end joining factor 1  / complex
 ENSG00000079246 XRCC5 / P13010 / X-ray repair cross complementing 5  / reaction
 ENSG00000152457 Q96SD1 / DCLRE1C / DNA cross-link repair 1C  / reaction
 ENSG00000122678 POLM / Q9NP87 / DNA polymerase mu  / reaction
 ENSG00000166169 POLL / Q9UGP5 / DNA polymerase lambda  / reaction
 ENSG00000152422 XRCC4 / Q13426 / X-ray repair cross complementing 4  / reaction






 

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