MCM8 - minichromosome maintenance 8 homologous recombination repair factor Gene

Homo sapiens

Also known as POF10; C20orf154; dJ967N21.5

Gene ID: 84515 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

0
200
400
600
840 a.a.

Protein Preferred Names

Protein Names

DNA helicase MCM8

DNA replication licensing factor MCM8

MCM8 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08241	MCM8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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