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

    Gene ID: 163882, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See CNST in Genome Data Viewer
    Location:
    1q44
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (246566456..246668595)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (245987346..246091605)
    RS_2024_09 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 48 member 1, envelope 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 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 (37) 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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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