CNST consortin, connexin sorting protein [Homo sapiens] - Gene

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Summary

Official Symbol: CNSTprovided by HGNC
Official Full Name: consortin, connexin sorting proteinprovided by HGNC
Primary source: HGNC:26486
Locus tag: RP11-452J6.1
See related: Ensembl:ENSG00000162852; HPRD:08718; MIM:613439; Vega:OTTHUMG00000040090
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C1orf71; PPP1R64; RP11-452J6.1
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]

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Genomic context

Location :: 1q44

Sequence :: Chromosome: 1; NC_000001.10 (246729639..246831884)

See CNST in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Consortin is a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins.
Title: Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
Q6PJW8	Q01844	EWSR1		HPRD	PubMed
BioGRID:127882	BioGRID:108431	EWSR1		BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
connexin binding	ISS Inferred from Sequence or Structural Similarity more info
phosphatase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
negative regulation of phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of Golgi to plasma membrane protein transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
protein complex	IDA Inferred from Direct Assay more info	PubMed
trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed
transport vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: consortin

Names: consortin; protein phosphatase 1, regulatory subunit 64

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001139459.1 → NP_001132931.1 consortin isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL356583, BC010228, DA461531, DA994539

Consensus CDS

CCDS44343.1

UniProtKB/Swiss-Prot

Q6PJW8

Related

ENSP00000355469, OTTHUMP00000038012, ENST00000366512, OTTHUMT00000096781
NM_152609.2 → NP_689822.2 consortin isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL591848, AL646019, BX647629, DA461531, DA994539

Consensus CDS

CCDS1628.1

UniProtKB/Swiss-Prot

Q6PJW8

Related

ENSP00000355470, OTTHUMP00000038011, ENST00000366513, OTTHUMT00000096780

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

246729639..246831884

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

217115430..217192622

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL356583.28 (196346..207485)	None
genomic	AL591623.15	CAH70030.1
		CAH70031.1
		CAH70032.1
genomic	AL591848.13 (2000..2603)	None
genomic	AL646019.4	CAH73934.1
genomic	CH471148.1	EAW77154.1
		EAW77155.1
		EAW77156.1
		EAW77157.1
		EAW77158.1
		EAW77159.1
mRNA	AK056563.1	BAB71218.1
mRNA	AK074142.1	BAB84968.1
mRNA	AK091739.1	BAC03735.1
mRNA	AL834246.2	CAD38922.2
mRNA	BC010228.2	AAH10228.1
mRNA	BC036200.1	AAH36200.1
mRNA	BX647629.1	None
mRNA	DA461531.1	None
mRNA	DA994539.1	None
other-genetic	AM392580.1	CAL37458.1
other-genetic	AM393329.1	CAL38207.1