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  2. CNST - consortin, connexin sorting protein Gene

CNST - consortin, connexin sorting protein Gene

中文名称:consortin,连接蛋白分选蛋白

种属: Homo sapiens

同用名: C1orf71; PPP1R64

基因 ID: 163882 | 基因类型: protein coding

关于 CNST

Cytogenetic location: 1q44 Genomic coordinates (GRCh38): 1:246,566,456-246,668,595 (from NCBI)

This gene has 4 transcripts (splice variants) and 237 orthologues. Ubiquitous expression in adrenal (RPKM 10.5), brain (RPKM 9.5) and 25 other tissues.

功能概要

许多跨膜蛋白靶向细胞表面被认为取决于它们被货物受体识别,这些受体与适配器机制相互作用,用于高尔基复合体远端的顺行交通。 Consortin (CNST) 是一种完整的膜蛋白,作为连接蛋白的结合伙伴,缝隙连接的构建块,并作为一种反式高尔基体网络 (TGN) 受体参与连接蛋白靶向质膜和从细胞回收表面 (del Castillo 等人,2010 [PubMed 19864490]) 。[OMIM 提供,2010 年 6 月]

Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]

CNST 基因产物(2)

mRNA Protein Name
NM_001139459.2 NP_001132931.1 consortin isoform 2
NM_152609.3 NP_689822.2 consortin isoform 1
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 positive regulation of Golgi to plasma membrane protein transport IMP
IMP: 通过突变表型推断
19864490 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
19864490 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
19864490 GOA
located in transport vesicle IDA
IDA: 通过直接分析推断
19864490 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

CNST 蛋白结构

Consortin_C

Consortin_C: Consortin C-terminus (612 - 723)

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

consortin

protein phosphatase 1, regulatory subunit 64

CNST 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
CNST Q6PJW8 ROPN1 Homo sapiens Q9HAT0
Y2H Array
25416956
种属内
CNST Q6PJW8 ROPN1 Homo sapiens Q9HAT0
Y2H Prey Pooling
25416956
种属内
CNST Q6PJW8 ROPN1 Homo sapiens Q9HAT0
Validated Y2H
25416956
种属内
CNST Q6PJW8 PPP1CA Homo sapiens P62136
Y2H
22321011
种属内
CNST Q6PJW8 PPP1CA Homo sapiens P62136
Far-WB
19389623
种属内
CNST Q6PJW8 POT1 Homo sapiens Q9NUX5
Pull Down
21044950
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
Thyroid Dyshormonogenesis 4

Deiodinase Deficiency

TDH4

Iodotyrosine Dehalogenase Deficiency

Thyroid Hormonogenesis, Genetic Defect In, 4

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 4

Genetic Defect In Thyroid Hormonogenesis 4

Chdh4

Congenital Hypothyroidism Due To Dyshormonogenesis Type 4

Genetic Defect In Thyroid Hormonogenesis Type 4

Familial Thyroid Dyshormonogenesis

Thyroid Dyshormonogenesis

Familial Dyshormonogenetic Goiter

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
Felis catus CNST VGNC VGNC:61034
Bos taurus CNST VGNC VGNC:27532
Canis familiaris CNST VGNC VGNC:39428
Mus musculus CNST MGD MGI:2445141
Macaca mulatta CNST VGNC VGNC:71355
Rattus norvegicus CNST RGD RGD:1564833