MCM9 - minichromosome maintenance 9 homologous recombination repair factor Gene

Also Known as ODG4; MCMDC1; C6orf61; dJ329L24.1; dJ329L24.3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 254394

About MCM9

Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:118,813,455-118,935,159 (from NCBI)

This gene has 9 transcripts (splice variants), 171 orthologues, 8 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 3.1), lymph node (RPKM 3.0) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]

MCM9 Products (19)

mRNA Protein Name
NM_001378356.1 NP_001365285.1 DNA helicase MCM9 isoform 1
NM_001378357.1 NP_001365286.1 DNA helicase MCM9 isoform 1
NM_001378358.1 NP_001365287.1 DNA helicase MCM9 isoform 2
NM_001378359.1 NP_001365288.1 DNA helicase MCM9 isoform 3
NM_001378360.1 NP_001365289.1 DNA helicase MCM9 isoform 3
NM_001378361.1 NP_001365290.1 DNA helicase MCM9 isoform 4
NM_001378362.1 NP_001365291.1 DNA helicase MCM9 isoform 4
NM_001378363.1 NP_001365292.1 DNA helicase MCM9 isoform 4
NM_001378364.1 NP_001365293.1 DNA helicase MCM9 isoform 5
NM_001378365.1 NP_001365294.1 DNA helicase MCM9 isoform 6
NM_001378366.1 NP_001365295.1 DNA helicase MCM9 isoform 7
NM_001378367.1 NP_001365296.1 DNA helicase MCM9 isoform 8
NM_001378368.1 NP_001365297.1 DNA helicase MCM9 isoform 9
NM_001378369.1 NP_001365298.1 DNA helicase MCM9 isoform 10
NM_001378370.1 NP_001365299.1 DNA helicase MCM9 isoform 11
NM_001378371.1 NP_001365300.1 DNA helicase MCM9 isoform 12
NM_001378372.1 NP_001365301.1 DNA helicase MCM9 isoform 13
NM_017696.3 NP_060166.2 DNA helicase MCM9 isoform 1
NM_153255.5 NP_694987.1 DNA helicase MCM9 isoform 2
Molecular Function GO Annotation Evidence References Source
enables DNA helicase activity IMP
IMP: Inferred from mutant phenotype
26300262 GOA
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
23401855 GOA
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
26215093 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
involved in DNA duplex unwinding IMP
IMP: Inferred from mutant phenotype
26300262 GOA
NOT involved in DNA replication IGI
IGI: Inferred from genetic interaction
23401855 GOA
involved in double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
22771115 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: Inferred from mutant phenotype
23401855 GOA
involved in mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication IMP
IMP: Inferred from mutant phenotype
26300262 GOA
involved in protein localization to chromatin 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

MCM9 Protein Structure

MCM

MCM: MCM2/3/5 family (302 - 604)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1143 a.a.
Protein Preferred Names Protein Names

DNA helicase MCM9

  • DNA replication licensing factor MCM9

MCM9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MCM9 Q9NXL9 MSH6 Homo sapiens P52701 26300262
Intra
MCM9 Q9NXL9 MSH6 Homo sapiens P52701 26300262
Intra
MCM9 Q9NXL9 MLH1 Homo sapiens P40692 26300262
Intra
MCM9 Q9NXL9 MLH1 Homo sapiens P40692 26300262
Intra
MCM9 Q9NXL9 MCM8 Homo sapiens Q9UJA3 26300262
Intra
MCM9 Q9NXL9 MCM8 Homo sapiens Q9UJA3 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ovarian Dysgenesis 4
  • 46,Xx Ovarian Dysgenesis-Short Stature Syndrome

  • ODG4

  • Dysgenesis, Ovarian, Type 4

Premature Ovarian Failure 1
  • Ovarian Failure, Premature

  • Fmr1-Related Primary Ovarian Insufficiency

  • Fragile X-Associated Primary Ovarian Insufficiency

  • POF1

  • Pofx

  • Hypergonadotropic Ovarian Failure, X-Linked

  • Pof

  • Primary Ovarian Insufficiency, Fragile X-Associated

  • Primary Ovarian Insufficiency 1

  • Ovarian Failure Premature

  • Premature Ovarian Failure, X-Linked

  • Fragile X Premature Ovarian Failure

  • Fmr1-Related Premature Ovarian Failure

  • Familial Premature Ovarian Failure

  • Idiopathic Familial Premature Ovarian Failure

  • Fxpoi

  • X-Linked Hypergonadotropic Ovarian Failure

  • Hypergonadotropic Ovarian Failure X-Linked

  • Poi

  • Premature Ovarian Failure X-Linked

  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure-1

  • Ovarian Failure, Premature, Type 1

  • Premature Ovarian Failure, Familial

  • Premature Menopause

  • Primary Hypogonadism

  • Turner Syndrome

Uterine Hypoplasia
Endometrial Mixed Adenocarcinoma
Amenorrhea
  • Absence Of Menstruation

  • Amenia

Nondisjunction
  • Mosaicism, Chromosomal

  • Mixoploidy, Familial

Meier-Gorlin Syndrome 8
  • MGORS8

Deafness, Autosomal Dominant 70
  • DFNA70

  • Autosomal Dominant Nonsyndromic Deafness 70

  • Autosomal Dominant Deafness 70

  • Deafness, Autosomal Dominant, 70

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

Hypotonia-Cystinuria Syndrome
  • Cystinuria With Mitochondrial Disease

  • 2p21 Microdeletion Syndrome

  • HCS

  • Homozygous 2p16 Deletion Syndrome, Formerly

  • 2p21 Deletion Syndrome

  • Del(2)(P21)

  • Monosomy 2p21

  • Atypical Hypotonia-Cystinuria Syndrome

  • Atypical Hcs

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

Orthologs Information

Species Symbol Source ID
Mus musculus MCM9 MGD MGI:1918817
Canis familiaris MCM9 VGNC VGNC:43089
Bos taurus MCM9 VGNC VGNC:31315
Rattus norvegicus MCM9 RGD RGD:1560557
Macaca mulatta MCM9 VGNC VGNC:83432
Felis catus MCM9 VGNC VGNC:63415
Others MCM9 NCBI