1. Gene
  2. CEP192 - centrosomal protein 192 Gene

CEP192 - centrosomal protein 192 Gene

中文名称:中心体蛋白 192

种属: Homo sapiens

同用名: PPP1R62

基因 ID: 55125 | 基因类型: protein coding

关于 CEP192

Cytogenetic location: 18p11.21 Genomic coordinates (GRCh38): 18:12,991,362-13,125,036 (from NCBI)

This gene has 14 transcripts (splice variants) and 221 orthologues. Ubiquitous expression in testis (RPKM 8.2), gall bladder (RPKM 6.1) and 25 other tissues.

功能概要

启用磷酸酶结合活性。参与以中心体为模板的微管成核;有丝分裂纺锤体组装;和蛋白质定位到中心体。位于中心粒;中心体;和胞质溶胶。 [由基因组资源联盟提供,2022 年 4 月]

Enables Phosphatase binding activity. Involved in centrosome-templated microtubule nucleation; mitotic spindle assembly; and protein localization to centrosome. Located in centriole; centrosome; and cytosol. [provided by Alliance of Genome Resources, Apr 2022]

CEP192 基因产物(1)

mRNA Protein Name
NM_032142.4 NP_115518.3 centrosomal protein of 192 kDa
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 phosphatase binding IDA
IDA: 通过直接分析推断
19389623 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19389623 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in centrosome-templated microtubule nucleation IMP
IMP: 通过突变表型推断
17980596 GOA
involved in mitotic spindle assembly IMP
IMP: 通过突变表型推断
17980596 GOA
involved in protein localization to centrosome IMP
IMP: 通过突变表型推断
17980596 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriole IDA
IDA: 通过直接分析推断
32060285 GOA
located in centrosome IDA
IDA: 通过直接分析推断
17980596 GOA
located in procentriole IDA
IDA: 通过直接分析推断
24997597 GOA
part of procentriole replication complex IPI
IPI: 通过物理相互作用推断
24997597 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
蛋白主名 其他名称

centrosomal protein of 192 kDa

192 kDa centrosomal protein

CEP192 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
CEP192 Q8TEP8 NUP50 Homo sapiens Q9UKX7
Anti Bait CoIP
35709258
种属内
CEP192 Q8TEP8 PLK4 Homo sapiens O00444
Anti Bait CoIP
24997597
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
Autosomal Dominant Intellectual Developmental Disorder 40

Autosomal Dominant Non-Syndromic Intellectual Disability 40

Autosomal Dominant Mental Retardation 40

Mrd40

Mental Retardation, Autosomal Dominant 40

Alstrom Syndrome

ALMS

Alström Syndrome

Alss

Alstrom-Hallgren Syndrome

Alstroem Syndrome

Ovarian Endometrioid Stromal Sarcoma
Ovary Sarcoma

Sarcoma Of Ovary

Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Rattus norvegicus CEP192 RGD RGD:1562797
Bos taurus CEP192 VGNC VGNC:27199
Felis catus CEP192 VGNC VGNC:82467
Mus musculus CEP192 MGD MGI:1918049
Canis familiaris CEP192 VGNC VGNC:58297