MCM4 - minichromosome maintenance complex component 4 Gene

Also Known as NKCD; CDC21; CDC54; IMD54; NKGCD; hCdc21; P1-CDC21

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4173

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence Referencias Source
contributes to DNA helicase activity IDA
IDA: Inferred from direct assay
9305914 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12364596 GOA
contributes to single-stranded DNA binding IDA
IDA: Inferred from direct assay
25661590 GOA
Biological Process GO Annotation Evidence Referencias Source
involved in DNA unwinding involved in DNA replication IDA
IDA: Inferred from direct assay
22474384 GOA
Cellular Component GO Annotation Evidence Referencias Source
part of CMG complex IPI
IPI: Inferred from physical interaction
22474384 GOA
part of MCM complex IDA
IDA: Inferred from direct assay
17296731 GOA
part of MCM complex IPI
IPI: Inferred from physical interaction
22540012 GOA
located in nucleus IDA
IDA: Inferred from direct assay
22474384 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

MCM4 Protein Structure

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.
Protein Preferred Names Protein Names

DNA replication licensing factor MCM4

  • homolog of S. pombe cell devision cycle 21

MCM4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
MCM4 P33991 SUPT16H Homo sapiens Q9Y5B9 16902406
Intra
MCM4 P33991 SUPT16H Homo sapiens Q9Y5B9 16902406
Intra
MCM4 P33991 SSRP1 Homo sapiens Q08945 16902406
Intra
MCM4 P33991 SSRP1 Homo sapiens Q08945 16902406
Intra
MCM4 P33991 MCM7 Homo sapiens P33993 22540012
Intra
MCM4 P33991 MCM7 Homo sapiens P33993 17296731
Intra
MCM4 P33991 MCM7 Homo sapiens P33993 15232106
Intra
MCM4 P33991 MCM7 Homo sapiens P33993 12364596
Intra
MCM4 P33991 MCMBP Homo sapiens Q9BTE3 22540012
Intra
MCM4 P33991 MCMBP Homo sapiens Q9BTE3 17296731
Cross: Cross-species interaction Intra: Intraspecies interaction

MCM4 Antibodies

Referencia número Nombre del producto Aplicación Reactivity
HY-P82963 MCM4 Antibody (YA2708) WB, FC, IP Human, Mouse

Related Diseases

Diseases Alias
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

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
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
Others MCM4 NCBI