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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

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

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