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CNST consortin, connexin sorting protein [ Homo sapiens (human) ]

Gene ID: 163882, updated on 5-Mar-2024

Summary

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Official Symbol
CNSTprovided by HGNC
Official Full Name
consortin, connexin sorting proteinprovided by HGNC
Primary source
HGNC:HGNC:26486
See related
Ensembl:ENSG00000162852 MIM:613439; AllianceGenome:HGNC:26486
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
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]
Expression
Ubiquitous expression in adrenal (RPKM 10.5), brain (RPKM 9.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q44
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (246566456..246668595)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (245987346..246091605)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (246729758..246831897)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:246679947-246680127 Neighboring gene long intergenic non-protein coding RNA 1743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:246701627-246702127 Neighboring gene transcription factor B2, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2857 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:246762689-246762876 Neighboring gene uncharacterized LOC105373271 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:246797385-246798584 Neighboring gene endogenous retrovirus group 3 member 1 pseudogene Neighboring gene suppressyn-like Neighboring gene ribosomal protein L7a pseudogene 82 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:246810364-246811563 Neighboring gene MPRA-validated peak817 silencer Neighboring gene uncharacterized LOC102724382 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:246853136-246853656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2037 Neighboring gene MPRA-validated peak819 silencer Neighboring gene saccharopine dehydrogenase (putative) Neighboring gene ReSE screen-validated silencer GRCh37_chr1:246917324-246917474 Neighboring gene ribosomal protein L35a pseudogene 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Circular RNA_CNST Promotes the Tumorigenesis of Osteosarcoma Cells by Sponging miR-421. Wang JH, et al. Cell Transplant, 2020 Jan-Dec. PMID 32693639, Free PMC Article
  2. Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins. del Castillo FJ, et al. Hum Mol Genet, 2010 Jan 15. PMID 19864490, Free PMC Article
  3. Protein phosphatase 1γ isoforms linked interactions in the brain. Esteves SL, et al. J Mol Neurosci, 2013 May. PMID 23080069
  4. Protein phosphatase 1α interacting proteins in the human brain. Esteves SL, et al. OMICS, 2012 Jan-Feb. PMID 22321011, Free PMC Article
  5. Identification of the human testis protein phosphatase 1 interactome. Fardilha M, et al. Biochem Pharmacol, 2011 Nov 15. PMID 21382349

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Circular RNA_CNST Promotes the Tumorigenesis of Osteosarcoma Cells by Sponging miR-421.
    Title: Circular RNA_CNST Promotes the Tumorigenesis of Osteosarcoma Cells by Sponging miR-421.
  2. 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

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of consortin, connexin sorting protein (CNST; C1orf71) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ32001, MGC18089

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables connexin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables connexin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables phosphatase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of Golgi to plasma membrane protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of Golgi to plasma membrane protein transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in membrane HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in transport vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in transport vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
consortin
Names
protein phosphatase 1, regulatory subunit 64

NCBI Reference Sequences (RefSeq)

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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)

  1. NM_001139459.2 → 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
    Related
    ENSP00000355469.3, ENST00000366512.7

  2. NM_152609.3 → NP_689822.2  consortin isoform 1

    See identical proteins and their annotated locations for NP_689822.2

    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
    Q5VSY9, Q5VTM7, Q6PJW8, Q8IYA9, Q8N3L5, Q8NB09, Q8TEI2, Q96MR5
    Related
    ENSP00000355470.4, ENST00000366513.9
    Conserved Domains (1) summary
    pfam15281
    Location:612 → 723
    Consortin_C; Consortin C-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    246566456..246668595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544111.2 → XP_011542413.1  consortin isoform X2

    See identical proteins and their annotated locations for XP_011542413.1

    UniProtKB/Swiss-Prot
    Q5VSY9, Q5VTM7, Q6PJW8, Q8IYA9, Q8N3L5, Q8NB09, Q8TEI2, Q96MR5
    Conserved Domains (1) summary
    pfam15281
    Location:612 → 723
    Consortin_C; Consortin C-terminus

  2. XM_011544112.2 → XP_011542414.1  consortin isoform X4

    Conserved Domains (1) summary
    pfam15281
    Location:476 → 587
    Consortin_C; Consortin C-terminus

  3. XM_005273081.4 → XP_005273138.3  consortin isoform X1

  4. XM_047447913.1 → XP_047303869.1  consortin isoform X7

  5. XM_047447903.1 → XP_047303859.1  consortin isoform X2

    UniProtKB/Swiss-Prot
    Q5VSY9, Q5VTM7, Q6PJW8, Q8IYA9, Q8N3L5, Q8NB09, Q8TEI2, Q96MR5

  6. XM_011544110.4 → XP_011542412.1  consortin isoform X2

    See identical proteins and their annotated locations for XP_011542412.1

    UniProtKB/Swiss-Prot
    Q5VSY9, Q5VTM7, Q6PJW8, Q8IYA9, Q8N3L5, Q8NB09, Q8TEI2, Q96MR5
    Conserved Domains (1) summary
    pfam15281
    Location:612 → 723
    Consortin_C; Consortin C-terminus

  7. XM_047447910.1 → XP_047303866.1  consortin isoform X5

  8. XM_047447906.1 → XP_047303862.1  consortin isoform X3

  9. XM_011544114.3 → XP_011542416.1  consortin isoform X6

    Conserved Domains (1) summary
    pfam15281
    Location:438 → 549
    Consortin_C; Consortin C-terminus

  10. XM_047447916.1 → XP_047303872.1  consortin isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    245987346..246091605
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334755.1 → XP_054190730.1  consortin isoform X2

  2. XM_054334758.1 → XP_054190733.1  consortin isoform X4

  3. XM_054334761.1 → XP_054190736.1  consortin isoform X7

  4. XM_054334754.1 → XP_054190729.1  consortin isoform X1

  5. XM_054334756.1 → XP_054190731.1  consortin isoform X2

  6. XM_054334759.1 → XP_054190734.1  consortin isoform X5

  7. XM_054334757.1 → XP_054190732.1  consortin isoform X3

  8. XM_054334760.1 → XP_054190735.1  consortin isoform X6

  9. XM_054334762.1 → XP_054190737.1  consortin isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PJW8.3 GenPept UniProtKB/Swiss-Prot:Q6PJW8

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