ENSG00000111877


Homo sapiens

Features
Gene ID: ENSG00000111877
  
Biological name :MCM9
  
Synonyms : MCM9 / minichromosome maintenance 9 homologous recombination repair factor / Q9NXL9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q22.31
Gene start: 118813442
Gene end: 118935162
  
Corresponding Affymetrix probe sets: 1553759_at (Human Genome U133 Plus 2.0 Array)   213561_at (Human Genome U133 Plus 2.0 Array)   219673_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000314505
Ensembl peptide - ENSP00000480469
Ensembl peptide - ENSP00000426890
Ensembl peptide - ENSP00000406576
Ensembl peptide - ENSP00000394776
Ensembl peptide - ENSP00000312870
NCBI entrez gene - 254394     See in Manteia.
OMIM - 610098
RefSeq - NM_017696
RefSeq - NM_153255
RefSeq Peptide - NP_060166
RefSeq Peptide - NP_694987
swissprot - Q9NXL9
swissprot - D6RE85
swissprot - A0A0S2Z662
swissprot - H0Y6M9
swissprot - D6RHY8
Ensembl - ENSG00000111877
  
Related genetic diseases (OMIM): 616185 - Ovarian dysgenesis 4, 616185
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
 mcm9ENSDARG00000013528Danio rerio
 MCM9ENSGALG00000014883Gallus gallus
 Mcm9ENSMUSG00000058298Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MCM7 / P33993 / minichromosome maintenance complex component 7ENSG0000016650819


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:0000724 double-strand break repair via homologous recombination IDA
 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:0007276 gamete generation IEA
 biological_processGO:0007292 female gamete generation ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0097362 MCM8-MCM9 complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
No match


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:0000786 Primary amenorrhea 
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004325 Decreased body weight 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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