2. Gene
  3. MCM4 - minichromosome maintenance complex component 4 Gene

MCM4 - minichromosome maintenance complex component 4 Gene

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

中文名称：微染色体维护复合体成分 4

种属: Homo sapiens

同用名: NKCD; CDC21; CDC54; IMD54; NKGCD; hCdc21; P1-CDC21

基因 ID: 4173 | 基因类型: protein coding

关于 MCM4

Cytogenetic location: 8q11.21 Genomic coordinates (GRCh38): 8:47,960,941-47,978,160 (from NCBI)

This gene has 28 transcripts (splice variants), 211 orthologues, 8 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 21.3), bone marrow (RPKM 19.5) 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、6 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 激酶对该蛋白的磷酸化降低了 MCM 复合物的 DNA 解旋酶活性和染色质结合。该基因被映射到 8 号染色体上紧邻 PRKDC/DNA-PK 的区域，PRKDC/DNA-PK 是一种参与 DNA 双链断裂修复的 DNA 激活蛋白激酶。已经报道了编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供，2008 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 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, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding Enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

MCM4 基因产物(2)

mRNA Protein Name
NM_005914.4 NP_005905.2 DNA replication licensing factor MCM4
NM_182746.3 NP_877423.1 DNA replication licensing factor MCM4
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 protein binding IPI
IPI: 通过物理相互作用推断
12364596 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
22474384 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

MCM4 蛋白结构

MCM_N

MCM_N: MCM N-terminal domain (162 - 287)

MCM

MCM: MCM2/3/5 family (447 - 769)

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

DNA replication licensing factor MCM4

homolog of S. pombe cell devision cycle 21

关联疾病

疾病名称 别名
Immunodeficiency 54

Natural Killer Cell Deficiency, Familial Isolated

Primary Immunodeficiency With Natural-Killer Cell Deficiency And Adrenal Insufficiency

IMD54

Nkcd

Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect

Nkgcd

Familial Isolated Natural Killer Cell Deficiency

Primary Immunodeficiency Due To Mcm4 Deficiency
Immunodeficiency 20

Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxicity

IMD20

Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Nk Cell Cytotoxicity

Cd16 Deficiency

Immunodeficiency, Type 20
Nk Cell Deficiency
Immunodeficiency 55

Combined Immunodeficiency Due To Gins1 Deficiency

IMD55

Cid Due To Gins1 Deficiency

Combined Immunodeficiency With Intrauterine Growth Retardation-Nk Cell Deficiency-Neutropenia

Combined Immunodeficiency With Intrauterine Growth Retardation-Natural Killer Cell Deficiency-Neutropenia
Familial Glucocorticoid Deficiency

Glucocorticoid Deficiency

Acth Resistance

Adrenal Unresponsiveness To Acth

Hereditary Unresponsiveness To Adrenocorticotropic Hormone

Isolated Glucocorticoid Deficiency

Glucocorticoid Deficiency, Familial

Glucocorticoid Deficiency 1
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome

IMAGE

Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

Image Anomaly

Image Association

Fetal Growth Retardation

Pyle Metaphyseal Dysplasia
Immunodeficiency 21

Monocytopenia And Mycobacterial Infection Syndrome

Monomac

Gata2 Deficiency

Monocytopenia With Susceptibility To Infections

Dcml

IMD21

Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency

Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections

Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections

Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency

Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome

Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections

Monocyte - B - Natural Killer - Dendritic Cell Deficiency

Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections

Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency

Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia
Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach
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
Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast
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-RS08237 MCM4 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 MCM4 VGNC VGNC:68215
Mus musculus MCM4 MGD MGI:103199
Bos taurus MCM4 VGNC VGNC:106815
Macaca mulatta MCM4 VGNC VGNC:74683
Rattus norvegicus MCM4 RGD RGD:3060
Canis familiaris MCM4 VGNC VGNC:43084
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