1. Gene
  2. CNST - consortin, connexin sorting protein Gene

CNST - consortin, connexin sorting protein Gene

Homo sapiens

Also known as C1orf71; PPP1R64

Gene ID: 163882 | Gene type: protein coding

About 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.

Summary

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 Products(2)

mRNA Protein Name
NM_001139459.2 NP_001132931.1 consortin isoform 2
NM_152609.3 NP_689822.2 consortin isoform 1

CNST Protein Structure

Consortin_C

Consortin_C: Consortin C-terminus (612 - 723)

  • 0
  • 200
  • 400
  • 600
  • 725 a.a.
Protein Preferred Names Protein Names

consortin

protein phosphatase 1, regulatory subunit 64

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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