1. Gene
  2. MCIDAS - multiciliate differentiation and DNA synthesis associated cell cycle protein Gene

MCIDAS - multiciliate differentiation and DNA synthesis associated cell cycle protein Gene

中文名称:多纤毛分化和 DNA 合成相关的细胞周期蛋白

种属: Homo sapiens

同用名: MCI; IDAS; MCIN; CILD42

基因 ID: 345643 | 基因类型: protein coding

关于 MCIDAS

Cytogenetic location: 5q11.2 Genomic coordinates (GRCh38): 5:55,219,564-55,227,315 (from NCBI)

This gene has 3 transcripts (splice variants), 124 orthologues, 2 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码 geminin 蛋白质家族的成员。编码的核蛋白是呼吸道上皮中多纤毛细胞生成所必需的。该基因的突变导致一种罕见的粘液纤毛清除障碍,与人类患者的反复呼吸道感染相关,称为多发性活动纤毛 (RGMC) 的减少。[RefSeq 提供,2016 年 9 月]

This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]

MCIDAS 基因产物(1)

mRNA Protein Name
NM_001190787.3 NP_001177716.1 multicilin
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 identical protein binding IPI
IPI: 通过物理相互作用推断
21543332 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21543332 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in motile cilium assembly IMP
IMP: 通过突变表型推断
25048963 GOA
involved in regulation of DNA-templated DNA replication initiation IDA
IDA: 通过直接分析推断
24064211 GOA
involved in regulation of cilium assembly IMP
IMP: 通过突变表型推断
25048963 GOA
involved in regulation of mitotic cell cycle IDA
IDA: 通过直接分析推断
21543332 GOA
involved in regulation of mitotic cell cycle IMP
IMP: 通过突变表型推断
21543332 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
NOT located in nucleolus IDA
IDA: 通过直接分析推断
21543332 GOA
located in nucleus IDA
IDA: 通过直接分析推断
21543332 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

MCIDAS 蛋白结构

Geminin

Geminin: Geminin (177 - 247)

  • 0
  • 100
  • 200
  • 300
  • 385 a.a.
蛋白主名 其他名称

multicilin

multiciliate cell differentiation 1

MCIDAS 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
种属内
MCIDAS D6RGH6 TCEANC Homo sapiens Q8N8B7-2
Validated Y2H
32296183
种属内
MCIDAS D6RGH6 BYSL Homo sapiens Q13895
Validated Y2H
32296183
种属内
MCIDAS D6RGH6 GMNN Homo sapiens O75496
Anti Tag CoIP
21543332
种属内
MCIDAS D6RGH6 GMNN Homo sapiens O75496
Pull Down
21543332
种属内
MCIDAS D6RGH6 MCIDAS Homo sapiens D6RGH6
Anti Tag CoIP
21543332
种属内
MCIDAS D6RGH6 ZBTB24 Homo sapiens O43167
Validated Y2H
32296183
种属内
MCIDAS D6RGH6 MCIDAS Homo sapiens D6RGH6
Light Scattering
21543332
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
Ciliary Dyskinesia, Primary, 42

CILD42

Ciliary Dyskinesia, Primary, 42, Without Situs Inversus

Primary Ciliary Dyskinesia 42

Primary Ciliary Dyskinesia 42 Without Situs Inversus

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

Ciliary Dyskinesia, Primary, 29

Primary Ciliary Dyskinesia 29

CILD29

Ciliary Dyskinesia, Primary, 29, Without Situs Inversus

Primary Ciliary Dyskinesia 29 Without Situs Inversus

Primary Ciliary Dyskinesia Without Situs Inversus

Dyskinesia, Ciliary, Primary, Type 29

Miles-Carpenter Syndrome

X-Linked Intellectual Disability, Miles-Carpenter Type

Mcs

Mental Retardation, X-Linked, Syndromic 4

Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches

Mrxs4

Miles-Carpenter X-Linked Mental Retardation Syndrome

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Chronic Rhinitis

Rhinitis - Chronic

Chronic Rhinitis Nos

Rhinitis

Rhinitis Nos

Infertility
Hyperoxaluria, Primary, Type Iii

Primary Hyperoxaluria Type 3

HP3

Ph Iii

Primary Hyperoxaluria Type Iii

Hyperoxaluria Primary 3

Hyperoxaluria Non-Hp1/Non-Hp2

Hyperoxaluria Non-Ph I/Ph Ii Form

Hyperoxaluria Primary Type Iii

Kartagener Syndrome

Kartagener'S Syndrome

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

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
Canis familiaris MCIDAS VGNC VGNC:43078
Bos taurus MCIDAS VGNC VGNC:31306
Macaca mulatta MCIDAS VGNC VGNC:74637
Mus musculus MCIDAS MGD MGI:3648807
Rattus norvegicus MCIDAS RGD RGD:1584164