1. Gene
  2. MCM8 - minichromosome maintenance 8 homologous recombination repair factor Gene

MCM8 - minichromosome maintenance 8 homologous recombination repair factor Gene

中文名称:微染色体维持 8 同源重组修复因子

种属: Homo sapiens

同用名: POF10; C20orf154; dJ967N21.5

基因 ID: 84515 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是高度保守的微型染色体维护蛋白 (MCM) 之一,对于启动真核基因组复制至关重要。由微型染色体维持蛋白形成的六聚体蛋白复合物是复制前复合物的关键组成部分,可能参与复制叉的形成和其他 DNA 复制相关蛋白的募集。该蛋白包含在微型染色体维护蛋白中保守的中央结构域。编码的蛋白质可能与其他微型染色体维护蛋白质相互作用,并在 DNA 复制中发挥作用。该基因可能与生殖寿命和更年期的长度有关。已经描述了编码不同同种型的选择性剪接转录物变体。[RefSeq 提供,2013 年 7 月]

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 基因产物(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
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 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
22540012 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
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 IMP
IMP: 通过突变表型推断
23401855 GOA
involved in protein localization to chromatin IMP
IMP: 通过突变表型推断
23401855 GOA
involved in protein stabilization 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

MCM8 蛋白结构

MCM_N

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

MCM

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

  • 0
  • 200
  • 400
  • 600
  • 840 a.a.
蛋白主名 其他名称

DNA helicase MCM8

DNA replication licensing factor MCM8

MCM8 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
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
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
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

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
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