1. Gene
  2. CEP131 - centrosomal protein 131 Gene

CEP131 - centrosomal protein 131 Gene

中文名称:中心体蛋白 131

种属: Homo sapiens

同用名: AZ1; ZA1; AZI1

基因 ID: 22994 | 基因类型: protein coding

关于 CEP131

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,189,596-81,222,965 (from NCBI)

This gene has 8 transcripts (splice variants) and 187 orthologues. Broad expression in testis (RPKM 7.3), spleen (RPKM 3.7) and 25 other tissues.

功能概要

启用蛋白质同源二聚化活性。参与多个过程,包括参与纤毛组装的纤毛内运输;蛋白质定位于中心体;和中心体复制的调节。位于多个细胞成分中,包括睫状过渡区;细胞间桥;和微管组织中心。与中心体共定位。 [由基因组资源联盟提供,2022 年 4 月]

Enables protein homodimerization activity. Involved in several processes, including intraciliary transport involved in cilium assembly; protein localization to centrosome; and regulation of centrosome duplication. Located in several cellular components, including ciliary transition zone; intercellular bridge; and microtubule organizing center. Colocalizes with centrosome. [provided by Alliance of Genome Resources, Apr 2022]

CEP131 基因产物(4)

mRNA Protein Name
NM_001009811.4 NP_001009811.2 centrosomal protein of 131 kDa isoform b
NM_001319228.2 NP_001306157.1 centrosomal protein of 131 kDa isoform c
NM_001319229.2 NP_001306158.1 centrosomal protein of 131 kDa isoform d
NM_014984.4 NP_055799.2 centrosomal protein of 131 kDa isoform a
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 protein binding IPI
IPI: 通过物理相互作用推断
22797915 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
24550735 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
24550735 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intraciliary transport involved in cilium assembly IMP
IMP: 通过突变表型推断
24550735 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
22797915 GOA
involved in positive regulation of intracellular protein transport IMP
IMP: 通过突变表型推断
24550735 GOA
involved in protein localization to centrosome IMP
IMP: 通过突变表型推断
26297806 GOA
involved in regulation of centrosome duplication IMP
IMP: 通过突变表型推断
22797915 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriolar satellite IDA
IDA: 通过直接分析推断
22797915 GOA
colocalizes with centrosome IDA
IDA: 通过直接分析推断
14654843 GOA
located in centrosome IDA
IDA: 通过直接分析推断
21399614 GOA
located in ciliary basal body IDA
IDA: 通过直接分析推断
27224062 GOA
located in ciliary transition zone IDA
IDA: 通过直接分析推断
24415959 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 131 kDa

5-azacytidine induced 1

CEP131 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
Intra CEP131 Q9UPN4 CEP290 Homo sapiens O15078
Anti Bait CoIP
24816561
Intra CEP131 Q9UPN4 CEP152 Homo sapiens O94986
Anti Bait CoIP
26297806
Intra CEP131 Q9UPN4 PCM1 Homo sapiens Q15154
Anti Tag CoIP
35271311
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
Female-Restricted Syndromic X-Linked Intellectual Disability 99

X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability

Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted

Female-Restricted Syndromic X-Linked Mental Retardation 99

Mrxs99f

X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited To Females

Simpson-Golabi-Behmel Syndrome, Type 2

Simpson-Golabi-Behmel Syndrome Type 2

SGBS2

Simpson-Golabi-Behmel Syndrome 2

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

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 CEP131 VGNC VGNC:51939
Macaca mulatta CEP131 VGNC VGNC:71137
Rattus norvegicus CEP131 RGD RGD:1307745
Mus musculus CEP131 MGD MGI:107440
Bos taurus CEP131 VGNC VGNC:27192
Felis catus CEP131 VGNC VGNC:60767