ENSG00000125885


Homo sapiens

Features
Gene ID: ENSG00000125885
  
Biological name :MCM8
  
Synonyms : MCM8 / minichromosome maintenance 8 homologous recombination repair factor / Q9UJA3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: p12.3
Gene start: 5950652
Gene end: 5998977
  
Corresponding Affymetrix probe sets: 224320_s_at (Human Genome U133 Plus 2.0 Array)   231827_at (Human Genome U133 Plus 2.0 Array)   232198_at (Human Genome U133 Plus 2.0 Array)   233560_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368164
Ensembl peptide - ENSP00000265187
Ensembl peptide - ENSP00000368161
Ensembl peptide - ENSP00000368174
Ensembl peptide - ENSP00000478141
NCBI entrez gene - 84515     See in Manteia.
OMIM - 608187
RefSeq - XM_017028107
RefSeq - NM_001281520
RefSeq - NM_001281521
RefSeq - NM_001281522
RefSeq - NM_032485
RefSeq - NM_182802
RefSeq - XM_011529387
RefSeq - XM_017028105
RefSeq - XM_017028106
RefSeq Peptide - NP_877954
RefSeq Peptide - NP_001268449
RefSeq Peptide - NP_001268450
RefSeq Peptide - NP_001268451
RefSeq Peptide - NP_115874
swissprot - Q9UJA3
Ensembl - ENSG00000125885
  
Related genetic diseases (OMIM): 612885 - ?Premature ovarian failure 10, 612885
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
 mcm8ENSDARG00000074326Danio rerio
 MCM8ENSGALG00000009195Gallus gallus
 Mcm8ENSMUSG00000027353Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MCM4 / P33991 / minichromosome maintenance complex component 4ENSG0000010473825


Protein motifs (from Interpro)
Interpro ID Name
 IPR001208  MCM domain
 IPR003593  AAA+ ATPase domain
 IPR012340  Nucleic acid-binding, OB-fold
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR031327  Mini-chromosome maintenance protein
 IPR033762  MCM OB domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000082 G1/S transition of mitotic cell cycle TAS
 biological_processGO:0000724 double-strand break repair via homologous recombination IEA
 biological_processGO:0006260 DNA replication TAS
 biological_processGO:0006270 DNA replication initiation IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007292 female gamete generation IEA
 biological_processGO:0048232 male gamete generation IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0097362 MCM8-MCM9 complex IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
E2F-enabled inhibition of pre-replication complex formation
Activation of ATR in response to replication stress
Unwinding of DNA
CDC6 association with the ORC:origin complex
CDT1 association with the CDC6:ORC:origin complex
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex


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:0000027 Azoospermia 
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 HP:0000786 Primary amenorrhea 
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 HP:0000821 Hypothyroidism 
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 HP:0008209 Premature ovarian failure 
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 HP:0008232 Elevated follicle stimulating hormone 
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 HP:0008724 Hypoplastic ovary 
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 HP:0008734 Decreased testicular size 
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 HP:0011969 Elevated luteinizing hormone "An elevated concentration of luteinizing hormone in the blood." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000115942 ORC2 / Q13416 / origin recognition complex subunit 2  / complex






 

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