1. Gene
  2. MCM5 - minichromosome maintenance complex component 5 Gene

MCM5 - minichromosome maintenance complex component 5 Gene

中文名称:微型染色体维护复杂组件 5

种属: Homo sapiens

同用名: CDC46; MGORS8; P1-CDC46

基因 ID: 4174 | 基因类型: protein coding

关于 MCM5

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:35,400,140-35,455,031 (from NCBI)

This gene has 10 transcripts (splice variants), 204 orthologues, 8 paralogues and is associated with 1 phenotype. Broad expression in bone marrow (RPKM 35.9), lymph node (RPKM 27.6) and 24 other tissues.

功能概要

该基因编码的蛋白质在结构上与酿酒酵母中的 CDC46 蛋白质非常相似,后者是一种参与 DNA 复制起始的蛋白质。编码的蛋白质是染色质结合蛋白 MCM 家族的成员,并且可以与该家族的至少两个其他成员相互作用。所编码的蛋白在细胞周期从 G0 期到 G1/S 期的转变中上调,可能积极参与细胞周期调控。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]

MCM5 基因产物(1)

mRNA Protein Name
NM_006739.4 NP_006730.2 DNA replication licensing factor MCM5

MCM5 蛋白结构

MCM_N

MCM_N: MCM N-terminal domain (32 - 153)

MCM

MCM: MCM2/3/5 family (318 - 647)

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

DNA replication licensing factor MCM5

CDC46 homolog

关联疾病

疾病名称 别名
Meier-Gorlin Syndrome 8

MGORS8

Genitourinary Tract Anomalies
Meier-Gorlin Syndrome 7

MGORS7

Meier-Gorlin Syndrome, Type 7

Meier-Gorlin Syndrome 5

MGORS5

Meier-Gorlin Syndrome, Type 5

Melanoacanthoma
Neuropathy, Hereditary Sensory And Autonomic, Type Iii

Familial Dysautonomia

Riley-Day Syndrome

Dysautonomia, Familial

HSAN3

Hsan Iii

Fd

Hereditary Sensory And Autonomic Neuropathy Type Iii

Dys

Hereditary Sensory And Autonomic Neuropathy 3

Riley Day Syndrome

Familial Autonomic Nervous Dysfunction

Hereditary Sensory Autonomic Neuropathy Type Iii

Hsan 3

Hsn 3

Hereditary Sensory Neuropathy Type 3

Hsan Type Iii

Hsn-Iii

Hereditary Sensory And Autonomic Neuropathy Type 3

Neuropathy, Hereditary Sensory And Autonomic, 3

Hsn Iii

Dysautonomia Familial

Neuropathy, Sensory And Autonomic, Hereditary, Type Iii

Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]

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

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

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 MCM5 MGD MGI:103197
Bos taurus MCM5 VGNC VGNC:31311
Rattus norvegicus MCM5 RGD RGD:1306616
Felis catus MCM5 VGNC VGNC:68216
Macaca mulatta MCM5 VGNC VGNC:74684
Canis familiaris MCM5 VGNC VGNC:43085