2. Gene
  3. MCM6 - minichromosome maintenance complex component 6 Gene

MCM6 - minichromosome maintenance complex component 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：微型染色体维护复杂组件 6

种属: Homo sapiens

同用名: Mis5; P105MCM; MCG40308

基因 ID: 4175 | 基因类型: protein coding

关于 MCM6

Cytogenetic location: 2q21.3 Genomic coordinates (GRCh38): 2:135,839,626-135,876,443 (from NCBI)

This gene has 3 transcripts (splice variants), 208 orthologues, 8 paralogues and is associated with 2 phenotypes. Broad expression in lymph node (RPKM 19.9), bone marrow (RPKM 13.7) 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 MCM 蛋白形成的六聚体蛋白复合物是复制前复合物 (pre_RC) 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。由该蛋白和 MCM2、4 和 7 蛋白组成的 MCM 复合物具有 DNA 解旋酶活性，可作为 DNA 解旋酶。 CDC2 激酶对复合物的磷酸化会降低解旋酶活性，表明它在 DNA 复制的调节中起作用。该基因内含子区域的单核苷酸多态性与邻近乳糖酶基因启动子的差异转录激活有关，从而影响成年早期的乳糖不耐症。[RefSeq 提供，2012 年 5 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 MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding Enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]

MCM6 基因产物(1)

mRNA Protein Name
NM_005915.6 NP_005906.2 DNA replication licensing factor MCM6
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
contributes to DNA helicase activity IDA
IDA: 通过直接分析推断
9305914 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
15232106 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11095689 GOA
contributes to single-stranded DNA binding IDA
IDA: 通过直接分析推断
25661590 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA unwinding involved in DNA replication IDA
IDA: 通过直接分析推断
22474384 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of CMG complex IPI
IPI: 通过物理相互作用推断
22474384 GOA
part of MCM complex IDA
IDA: 通过直接分析推断
17296731 GOA
part of MCM complex IPI
IPI: 通过物理相互作用推断
22540012 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16899510 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

MCM6 蛋白结构

MCM_N

MCM_N: MCM N-terminal domain (26 - 139)

MCM

MCM: MCM2/3/5 family (334 - 656)

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

DNA replication licensing factor MCM6

MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe)

关联疾病

疾病名称 别名
Lactose Intolerance, Adult Type

Hypolactasia, Adult Type

Adult Lactase Deficiency

Disaccharide Intolerance Iii

Lactase Persistence/Nonpersistence

Lactose Intolerance Adult Type
Lactose Intolerance

Lactose Malabsorption

Lm - Lactose Malabsorption

Alactasia

Dairy Product Intolerance

Hypolactasia

Milk Sugar Intolerance

Cow Milk Enteropathy

Intolerance Or Malabsorption Of Lactose

Lm - [Lactose Malabsorption]

Milk Intolerance
Craniopharyngioma

Neoplasm Of Rathke'S Pouch

Adamantinomatous Tumor

Craniopharyngeal Duct Tumor

Dysodontogenic Epithelial Tumor

Rathke'S Pouch Tumor
Lactase Deficiency, Congenital

Congenital Lactase Deficiency

Disaccharide Intolerance Ii

Congenital Alactasia

Congenital Alactasia Syndrome

Congenital Lactose Intolerance

Congenital Lactose Malabsorption

Hereditary Alactasia

Alactasia, Congenital

Cld

COLACD

Disaccharide Intolerance Type 2

Cld - [Congenital Lactase Deficiency]

Disaccharide Intolerance 2

Lactose Intolerance Of Newborn

Hereditary Lactase Deficiency
Endometrial Mixed Adenocarcinoma
Filippi Syndrome

Scott Craniodigital Syndrome With Mental Retardation

Type 1 Syndactyly-Microcephaly-Intellectual Disability Syndrome

FLPIS

Scott Bryant Graham Syndrome

Craniodigital-Intellectual Disability Syndrome

Scott Craniodigital Syndrome

Scott-Bryant-Graham Syndrome

Syndactyly, Type I, With Microcephaly And Mental Retardation

Syndactyly Type I With Microcephaly And Intellectual Disability

Unusual Facial Appearance, Microcephaly, Growth And Intellectual Disability And Syndactyly

Craniodigital Syndrome With Intellectual Disability

Craniodigital Syndrome-Intellectual Disability Syndrome

Craniodigital Syndrome-Intellectual Disability, Scott Type

Intellectual Disability-Craniodigital Syndrome
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
Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08239 MCM6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus MCM6 VGNC VGNC:68217
Rattus norvegicus MCM6 RGD RGD:61967
Bos taurus MCM6 VGNC VGNC:31312
Mus musculus MCM6 MGD MGI:1298227
Canis familiaris MCM6 VGNC VGNC:43086
Macaca mulatta MCM6 VGNC VGNC:74685
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