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

Gene ID: 163882, updated on 24-Nov-2020

Summary

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
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

Genomic context

See CNST in Genome Data Viewer
Location:
1q44
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (246566338..246668595)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (246729639..246831884)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1743 Neighboring gene transcription factor B2, mitochondrial Neighboring gene uncharacterized LOC105373271 Neighboring gene endogenous retrovirus group 3 member 1 pseudogene Neighboring gene suppressyn-like Neighboring gene uncharacterized LOC102724382 Neighboring gene saccharopine dehydrogenase (putative) Neighboring gene ribosomal protein L35a pseudogene 6

Genomic regions, transcripts, and products

Expression

  • 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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32001, MGC18089

Gene Ontology Provided by GOA

Function Evidence Code Pubs
connexin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
connexin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
transport vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transport vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
consortin
Names
protein phosphatase 1, regulatory subunit 64

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)

  1. NM_001139459.2NP_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
    ENSP00000355469.3, ENST00000366512.7
  2. NM_152609.3NP_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
    Q6PJW8
    Related
    ENSP00000355470.4, ENST00000366513.9
    Conserved Domains (1) summary
    pfam15281
    Location:612723
    Consortin_C; Consortin C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    246566338..246668595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544112.1XP_011542414.1  consortin isoform X3

    Conserved Domains (1) summary
    pfam15281
    Location:476587
    Consortin_C; Consortin C-terminus
  2. XM_005273083.5XP_005273140.1  consortin isoform X4

    See identical proteins and their annotated locations for XP_005273140.1

    Conserved Domains (1) summary
    pfam15281
    Location:447558
    Consortin_C; Consortin C-terminus
  3. XM_011544111.1XP_011542413.1  consortin isoform X1

    See identical proteins and their annotated locations for XP_011542413.1

    UniProtKB/Swiss-Prot
    Q6PJW8
    Conserved Domains (1) summary
    pfam15281
    Location:612723
    Consortin_C; Consortin C-terminus
  4. XM_017000487.1XP_016855976.1  consortin isoform X2

    Conserved Domains (1) summary
    pfam15281
    Location:490601
    Consortin_C; Consortin C-terminus
  5. XM_011544114.2XP_011542416.1  consortin isoform X5

    Conserved Domains (1) summary
    pfam15281
    Location:438549
    Consortin_C; Consortin C-terminus
  6. XM_017000488.1XP_016855977.1  consortin isoform X5

    Conserved Domains (1) summary
    pfam15281
    Location:438549
    Consortin_C; Consortin C-terminus
  7. XM_017000489.2XP_016855978.1  consortin isoform X5

    Conserved Domains (1) summary
    pfam15281
    Location:438549
    Consortin_C; Consortin C-terminus
  8. XM_011544113.2XP_011542415.1  consortin isoform X4

    See identical proteins and their annotated locations for XP_011542415.1

    Conserved Domains (1) summary
    pfam15281
    Location:447558
    Consortin_C; Consortin C-terminus
  9. XM_024453697.1XP_024309465.1  consortin isoform X6

    Conserved Domains (1) summary
    pfam15281
    Location:403514
    Consortin_C; Consortin C-terminus
  10. XM_005273081.3XP_005273138.2  consortin isoform X1

    See identical proteins and their annotated locations for XP_005273138.2

    UniProtKB/Swiss-Prot
    Q6PJW8
    Conserved Domains (1) summary
    pfam15281
    Location:612723
    Consortin_C; Consortin C-terminus
  11. XM_011544110.3XP_011542412.1  consortin isoform X1

    See identical proteins and their annotated locations for XP_011542412.1

    UniProtKB/Swiss-Prot
    Q6PJW8
    Conserved Domains (1) summary
    pfam15281
    Location:612723
    Consortin_C; Consortin C-terminus
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