ENSG00000065057


Homo sapiens

Features
Gene ID: ENSG00000065057
  
Biological name :NTHL1
  
Synonyms : NTHL1 / nth like DNA glycosylase 1 / P78549
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p13.3
Gene start: 2039815
Gene end: 2047866
  
Corresponding Affymetrix probe sets: 209731_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457818
Ensembl peptide - ENSP00000219066
Ensembl peptide - ENSP00000455267
Ensembl peptide - ENSP00000456301
NCBI entrez gene - 4913     See in Manteia.
OMIM - 602656
RefSeq - XM_017023253
RefSeq - NM_001318193
RefSeq - NM_001318194
RefSeq - NM_002528
RefSeq Peptide - NP_002519
RefSeq Peptide - NP_001305122
RefSeq Peptide - NP_001305123
swissprot - H3BRL9
swissprot - H3BUV2
swissprot - H3BPD5
swissprot - P78549
swissprot - E5KTI5
Ensembl - ENSG00000065057
  
Related genetic diseases (OMIM): 616415 - Familial adenomatous polyposis 3, 616415
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
 nthl1ENSDARG00000042881Danio rerio
 NTHL1ENSGALG00000005617Gallus gallus
 Nthl1ENSMUSG00000041429Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000445  Helix-hairpin-helix motif
 IPR003265  HhH-GPD domain
 IPR003651  Endonuclease III-like, iron-sulphur cluster loop motif
 IPR004036  Endonuclease III-like, conserved site-2
 IPR011257  DNA glycosylase
 IPR023170  Helix-turn-helix, base-excision DNA repair, C-terminal
 IPR030841  Endonuclease III-like protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006284 base-excision repair IEA
 biological_processGO:0006285 base-excision repair, AP site formation IDA
 biological_processGO:0006296 nucleotide-excision repair, DNA incision, 5"-to lesion IDA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0045008 depyrimidination TAS
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005739 mitochondrion IBA
 molecular_functionGO:0000703 oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity TAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003690 double-stranded DNA binding IDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity IDA
 molecular_functionGO:0004519 endonuclease activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008534 oxidized purine nucleobase lesion DNA N-glycosylase activity TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0019104 DNA N-glycosylase activity IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051539 4 iron, 4 sulfur cluster binding IEA
 molecular_functionGO:0140078 class I DNA-(apurinic or apyrimidinic site) endonuclease activity IEA
 molecular_functionGO:0140080 class III/IV DNA-(apurinic or apyrimidinic site) endonuclease activity IEA


Pathways (from Reactome)
Pathway description
Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
Displacement of DNA glycosylase by APEX1


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002858 Meningioma 
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 HP:0003002 Breast cancer 
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 HP:0008069 Neoplasia of the skin 
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 HP:0009725 Bladder tumors "Tumors, malignant or benign, originating in the bladder." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100823 APEX1 / P27695 / apurinic/apyrimidinic endodeoxyribonuclease 1  / reaction






 

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