MCM8 - minichromosome maintenance 8 homologous recombination repair factor Gene

Also Known as POF10; C20orf154; dJ967N21.5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84515

About MCM8

Cytogenetic location: 20p12.3 Genomic coordinates (GRCh38): 20:5,950,652-5,998,977 (from NCBI)

This gene has 5 transcripts (splice variants), 201 orthologues, 8 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 3.9), lymph node (RPKM 1.8) and 24 other tissues.

Summary

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of Other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with Other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

MCM8 Products (5)

mRNA Protein Name
NM_001281520.2 NP_001268449.1 DNA helicase MCM8 isoform 1
NM_001281521.2 NP_001268450.1 DNA helicase MCM8 isoform 3
NM_001281522.2 NP_001268451.1 DNA helicase MCM8 isoform 4
NM_032485.6 NP_115874.3 DNA helicase MCM8 isoform 1
NM_182802.3 NP_877954.1 DNA helicase MCM8 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables MutLbeta complex binding IDA
IDA: Inferred from direct assay
26300262 GOA
enables MutSalpha complex binding IDA
IDA: Inferred from direct assay
26300262 GOA
enables MutSbeta complex binding IDA
IDA: Inferred from direct assay
26300262 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
23401855 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
23401855 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22540012 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA damage response IDA
IDA: Inferred from direct assay
22771115 GOA
involved in DNA duplex unwinding IDA
IDA: Inferred from direct assay
26300262 GOA
NOT involved in DNA replication IGI
IGI: Inferred from genetic interaction
23401855 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: Inferred from mutant phenotype
23401855 GOA
involved in protein localization to chromatin IMP
IMP: Inferred from mutant phenotype
23401855 GOA
involved in protein stabilization IMP
IMP: Inferred from mutant phenotype
23401855 GOA
involved in recombinational interstrand cross-link repair IMP
IMP: Inferred from mutant phenotype
23401855 GOA
Cellular Component GO Annotation Evidence References Source
part of MCM8-MCM9 complex IDA
IDA: Inferred from direct assay
22771115 GOA
part of MCM8-MCM9 complex IPI
IPI: Inferred from physical interaction
26300262 GOA
located in nucleus IDA
IDA: Inferred from direct assay
23401855 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MCM8 Protein Structure

MCM_N

MCM_N: MCM N-terminal domain (107 - 223)

MCM

MCM: MCM2/3/5 family (390 - 748)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 840 a.a.
Protein Preferred Names Protein Names

DNA helicase MCM8

  • DNA replication licensing factor MCM8

MCM8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MCM8 Q9UJA3 MLH1 Homo sapiens P40692
Anti Bait CoIP
26300262
Intra
MCM8 Q9UJA3 MCMBP Homo sapiens Q9BTE3
Anti Bait CoIP
24299456
Intra
MCM8 Q9UJA3 MCMBP Homo sapiens Q9BTE3
Anti Bait CoIP
22540012
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Premature Ovarian Failure 10

  • POF10

  • Ovarian Failure, Premature, Type 10
Spermatogenic Failure

  • Azoospermia

  • Spgf

  • Spermatogenic Failure, Susceptibility To

  • Absent Sperm

  • Aspermatogenesis

  • Infertility Due To Azoospermia

  • Hypospermatogenesis

  • Azoospermatism
Placental Choriocarcinoma

  • Choriocarcinoma Of The Placenta
Endometrial Mixed Adenocarcinoma
Amenorrhea

  • Absence Of Menstruation

  • Amenia
46 Xx Gonadal Dysgenesis

  • Ovarian Dysgenesis

  • Gonadal Dysgenesis, 46,Xx

  • Dysgenesis, Ovarian
Premature Menopause

  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos
Fanconi Anemia, Complementation Group A

  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia
Perrault Syndrome

  • Gonadal Dysgenesis, Xx Type, With Deafness

  • Ovarian Dysgenesis With Sensorineural Deafness

  • Gonadal Dysgenesis, Xx Type

  • Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

  • Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

  • Xx Gonodal Dysgenesis-Deafness Syndrome

  • Xx Gonodal Dysgenesis-Hearing Loss Syndrome

  • Gonadal Dysgenesis Xx Type Deafness
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08241 MCM8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22231 Mcm8 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28753 Mcm8 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MCM8 RGD RGD:1305218
Macaca mulatta MCM8 VGNC VGNC:74516
Canis familiaris MCM8 VGNC VGNC:43088
Bos taurus MCM8 VGNC VGNC:31314
Mus musculus MCM8 MGD MGI:1913884
Felis catus MCM8 VGNC VGNC:81119
Others MCM8 NCBI