1. Gene
  2. MCM9 - minichromosome maintenance 9 homologous recombination repair factor Gene

MCM9 - minichromosome maintenance 9 homologous recombination repair factor Gene

中文名称:微染色体维持 9 同源重组修复因子

种属: Homo sapiens

同用名: ODG4; MCMDC1; C6orf61; dJ329L24.1; dJ329L24.3

基因 ID: 254394 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是微型染色体维护 (MCM) 蛋白质家族的成员,该家族对于启动真核基因组复制至关重要。这种蛋白质与染色质的结合已被证明是将 MCM2-7 解旋酶募集到 DNA 复制起点的先决条件。这种蛋白质还结合染色质许可和 DNA 复制因子 1,CDT1,并且是正调节因子。[RefSeq 提供,2010 年 11 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA helicase activity IMP
IMP: 通过突变表型推断
26300262 GOA
enables MutLbeta complex binding IDA
IDA: 通过直接分析推断
26300262 GOA
enables MutSalpha complex binding IDA
IDA: 通过直接分析推断
26300262 GOA
enables MutSbeta complex binding IDA
IDA: 通过直接分析推断
26300262 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
23401855 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
23401855 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23401855 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
26215093 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
22771115 GOA
involved in DNA duplex unwinding IDA
IDA: 通过直接分析推断
26300262 GOA
involved in DNA duplex unwinding IMP
IMP: 通过突变表型推断
26300262 GOA
NOT involved in DNA replication IGI
IGI: 通过遗传相互作用推断
23401855 GOA
involved in double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
22771115 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
23401855 GOA
involved in mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication IMP
IMP: 通过突变表型推断
26300262 GOA
involved in protein localization to chromatin IMP
IMP: 通过突变表型推断
23401855 GOA
involved in recombinational interstrand cross-link repair IMP
IMP: 通过突变表型推断
23401855 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MCM8-MCM9 complex IDA
IDA: 通过直接分析推断
22771115 GOA
part of MCM8-MCM9 complex IPI
IPI: 通过物理相互作用推断
26300262 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23401855 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MCM9 蛋白结构

MCM

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

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1143 a.a.
蛋白主名 其他名称

DNA helicase MCM9

DNA replication licensing factor MCM9

MCM9 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
MCM9 Q9NXL9 MSH6 Homo sapiens P52701
Anti Bait CoIP
26300262
种属内
MCM9 Q9NXL9 MSH6 Homo sapiens P52701
Anti Tag CoIP
26300262
种属内
MCM9 Q9NXL9 MLH1 Homo sapiens P40692
Anti Bait CoIP
26300262
种属内
MCM9 Q9NXL9 MLH1 Homo sapiens P40692
Anti Tag CoIP
26300262
种属内
MCM9 Q9NXL9 MCM8 Homo sapiens Q9UJA3
Anti Tag CoIP
26300262
种属内
MCM9 Q9NXL9 MCM8 Homo sapiens Q9UJA3
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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