ENSG00000104738


Homo sapiens

Features
Gene ID: ENSG00000104738
  
Biological name :MCM4
  
Synonyms : MCM4 / minichromosome maintenance complex component 4 / P33991
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: q11.21
Gene start: 47960185
Gene end: 47978160
  
Corresponding Affymetrix probe sets: 212141_at (Human Genome U133 Plus 2.0 Array)   212142_at (Human Genome U133 Plus 2.0 Array)   222036_s_at (Human Genome U133 Plus 2.0 Array)   222037_at (Human Genome U133 Plus 2.0 Array)   242479_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000262105
Ensembl peptide - ENSP00000430864
Ensembl peptide - ENSP00000430329
Ensembl peptide - ENSP00000430194
Ensembl peptide - ENSP00000428833
Ensembl peptide - ENSP00000427875
Ensembl peptide - ENSP00000427829
NCBI entrez gene - 4173     See in Manteia.
OMIM - 602638
RefSeq - NM_005914
RefSeq - NM_182746
RefSeq Peptide - NP_005905
RefSeq Peptide - NP_877423
swissprot - E5RHP5
swissprot - P33991
swissprot - E5RG53
swissprot - E5RG31
swissprot - E5RFR3
swissprot - E5RFJ8
Ensembl - ENSG00000104738
  
Related genetic diseases (OMIM): 609981 - Immunodeficiency 54, 609981
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
 mcm4ENSDARG00000040041Danio rerio
 ENSGALG00000012915Gallus gallus
 Mcm4ENSMUSG00000022673Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MCM8 / Q9UJA3 / minichromosome maintenance 8 homologous recombination repair factorENSG0000012588525


Protein motifs (from Interpro)
Interpro ID Name
 IPR001208  MCM domain
 IPR008047  Mini-chromosome maintenance complex protein 4
 IPR012340  Nucleic acid-binding, OB-fold
 IPR018525  Mini-chromosome maintenance, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR027925  MCM N-terminal domain
 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:0006260 DNA replication TAS
 biological_processGO:0006268 DNA unwinding involved in DNA replication IEA
 biological_processGO:0006270 DNA replication initiation IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0032508 DNA duplex unwinding IEA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region HDA
 cellular_componentGO:0005634 nucleus NAS
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0042555 MCM complex IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003678 DNA helicase activity IEA
 molecular_functionGO:0003697 single-stranded DNA binding IEA
 molecular_functionGO:0004003 ATP-dependent DNA helicase activity IDA
 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
Activation of ATR in response to replication stress
Unwinding of DNA
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
Switching of origins to a post-replicative state


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: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:0000846 Adrenal insufficiency 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0002878 Early respiratory failure 
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 HP:0004429 Recurrent viral infections 
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 HP:0005523 Lymphoproliferative disorder 
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 HP:0008897 Growth retardation, progressive 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000076003 MCM6 / Q14566 / minichromosome maintenance complex component 6  / complex
 ENSG00000166508 MCM7 / P33993 / minichromosome maintenance complex component 7  / complex






 

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