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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CNST Gene

protein-coding   GIFtS: 45
GCID: GC01P246730

consortin, connexin sorting protein

(Previous name: chromosome 1 open reading frame 71 )
(Previous symbol: C1orf71)
 Explore 4 diseases affiliated with
CNST via our new
 Human Malady Compendium 
Biological research products
for CNST
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Consortin, Connexin Sorting Protein1 2     Chromosome 1 Open Reading Frame 711
C1orf711 2 3     Consortin1
PPP1R641 2     Protein Phosphatase 1, Regulatory Subunit 642
FLJ320011     

External Ids:    HGNC: 264861   Entrez Gene: 1638822   Ensembl: ENSG000001628527   OMIM: 6134395   UniProtKB: Q6PJW83   

Export aliases for CNST gene to outside databases

Previous GC identifers: GC01P244797 GC01P217115


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CNST:
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)

UniProtKB/Swiss-Prot: CNST_HUMAN, Q6PJW8
Function: Required for targeting of connexins to the plasma membrane

Gene Wiki entry for CNST (C1orf71)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167186.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CNST
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CNST

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNST


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q44   Ensembl cytogenetic band:  1q44   HGNC cytogenetic band: 1q44

CNST Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNST gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P246730:  view genomic region     (about GC identifiers)

Start:
246,729,639 bp from pter      End:
246,831,886 bp from pter
Size:
102,248 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CNST_HUMAN, Q6PJW8 (See protein sequence)
Recommended Name: Consortin  
Size: 725 amino acids; 79597 Da
Subunit: Interacts with connexins GJA1/CX43, GJB1/CX32, GJB2/CX26, GJB3/CX31, GJB6/CX30 and GJC1/CX45. Also interacts
with GGA1 and GGA2. Does not interact with PANX1 (By similarity)
Subcellular location: Cell membrane; Single-pass membrane protein. Golgi apparatus, trans-Golgi network membrane;
Single-pass membrane protein. Cytoplasmic vesicle, secretory vesicle. Note=Located predominantly in the trans-Golgi
network. Probably trafficks between the trans-Golgi network and the cell membrane via the secretory pathway
Sequence caution: Sequence=BAB84968.1; Type=Frameshift; Positions=237; Sequence=BAC03735.1; Type=Frameshift;
Positions=412; Sequence=CAD38922.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q5VSY9 Q5VTM7 Q8IYA9 Q8N3L5 Q8NB09 Q8TEI2 Q96MR5
Alternative splicing: 3 isoforms:  Q6PJW8-1   Q6PJW8-2   Q6PJW8-3   

Explore the universe of human proteins at neXtProt for CNST: NX_Q6PJW8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6PJW8

  • CNST Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001132931.1  NP_689822.2  

    ENSEMBL proteins: 
     ENSP00000355470   ENSP00000355469   ENSP00000355468  

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    Uscn Proteins for CNST

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005802trans-Golgi network IDA19864490
    GO:0005886plasma membrane IDA19864490
    GO:0016021integral to membrane IEA--
    GO:0030133transport vesicle IDA19864490


    CNST for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q6PJW8

    UniProtKB/Swiss-Prot: CNST_HUMAN, Q6PJW8
    Similarity: Belongs to the CNST family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CNST_HUMAN, Q6PJW8
    Function: Required for targeting of connexins to the plasma membrane

    miRNA
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    Inhib. RNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0019902phosphatase binding IDA19389623
    GO:0071253connexin binding ISS--


    CNST for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CNST:
     Increased homologous recombina 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CNST

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/19 Interacting proteins for CNST (Q6PJW81, 3 ENSP000003554704) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GJB2P290333, ENSP000003722954I2D: score=1 STRING: ENSP00000372295
    GJB6O954523, ENSP000002411244I2D: score=1 STRING: ENSP00000241124
    EWSR1Q018443, ENSP000003810314I2D: score=2 STRING: ENSP00000381031
    PPP1CAP621361, ENSP000003260314EBI-750390,EBI-2623163 STRING: ENSP00000326031
    ACOT11ENSP000003603664STRING: ENSP00000360366
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010923negative regulation of phosphatase activity IDA19389623
    GO:0042998positive regulation of Golgi to plasma membrane protein transport IMP19864490


    CNST for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CNST
    Search CenterWatch for drugs/clinical trials and news about CNST 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CNST gene (2 alternative transcripts): 
    NM_001139459.1  NM_152609.2  

    Unigene Cluster for CNST:

    Consortin, connexin sorting protein
    Hs.368353  [show with all ESTs]
    Unigene Representative Sequence: NM_152609
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483271 ENST00000366513(uc001ibp.3) ENST00000366512(uc001ibo.4)
    ENST00000366511

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    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate CNST (see all 30):
    hsa-miR-100* hsa-miR-607 hsa-miR-520d-5p hsa-miR-429 hsa-miR-137 hsa-miR-3614-3p hsa-miR-575 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidCNST 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK026365.1 AK056563.1 AK074142.1 AK091739.1 AL834246.2 BC010228.2 BX647629.1 

    11 DOTS entries:

    DT.80101737  DT.100802078  DT.40130945  DT.92424112  DT.100651172  DT.121423586  DT.97842752  DT.100026544 
    DT.100774993  DT.101983157  DT.40126326 

    24/187 AceView cDNA sequences (see all 187):

    AW136406 AI140160 AI139381 AA910991 AI080173 AA830273 BI820961 CB118846 
    AI288579 AA456406 F01914 AK056563 BQ434752 AW589445 NM_152609 BC010228 
    BQ777268 BC036200 AI147814 AI192176 Z44874 AW193863 AI085936 CR601354 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CNST (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12
    SP1:                                      -     -                                                               
    SP2:                    -     -     -     -     -                                                               
    SP3:                    -                 -     -                                                               
    SP4:                    -                 -     -     -     -                                                   
    SP5:                                      -     -                                                               


    ECgene alternative splicing isoforms for CNST

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CNST expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAAATTCAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CNST Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CNST

    SOURCE GeneReport for Unigene cluster: Hs.368353
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CNST gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cnst1 , 5 consortin, connexin sorting protein1, 5 76.3(n)1
    69.82(a)1
      1 (83.57 cM)5
    2267441  NM_146105.31  NP_666217.21 
     1795463705 
    chicken
    (Gallus gallus)
    Aves CNST1 consortin, connexin sorting protein 62.97(n)
    48.81(a)
      421487  XM_419534.2  XP_419534.2 
    lizard
    (Anolis carolinensis)
    Reptilia CNST6
    --
    --
    44(a)
    43(a)
    many → 1
    many → 1
    1(235812496-235821635)
    GL343534.1(9563-21378)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL967385.22   -- 73.39(n)    AL967385.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5694251 uncharacterized LOC569425 47.75(n)
    38.86(a)
      569425  XM_692809.3  XP_697901.3 


    ENSEMBL Gene Tree for CNST (if available)
    TreeFam Gene Tree for CNST (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2051 NCBI SNPs in CNST are shown (see all 2051    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1816350291,2
    --246731793(+) ATCAGG/TATTTA 2 -- int10--------
    rs1862778351,2
    --246731804(+) GACATA/TCTTTA 2 -- int10--------
    rs753709941,2
    C,F,--246731822(+) AACTTG/TATTAG 2 -- int11Minor allele frequency- T:0.03WA 118
    rs1135728121,2
    --246731926(+) TCTGTC/TGCCTA 2 -- int12Minor allele frequency- T:0.03CSA WA 120
    rs1886401691,2
    --246731927(+) CTGTCA/GCCTAG 2 -- int10--------
    rs793947761,2
    F,--246731970(+) CTTTTC/TGGGTT 2 -- int12Minor allele frequency- T:0.06WA EA 238
    rs1421652601,2
    --246732139(+) GTGCTA/GGGATT 2 -- int10--------
    rs1510740601,2
    --246732141(+) GCTGGG/TATTAC 2 -- int10--------
    rs1400559101,2
    --246732163(+) ACCACA/GCCTTT 2 -- int10--------
    rs1435911421,2
    --246732219(+) TTTGTA/GAAGGC 2 -- int10--------

    HapMap Linkage Disequilibrium report for CNST (246729639 - 246831886 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for CNST
         4 CNVs: 31699 3338 84969 66416
         4 Indels: 97712 39707 84970 97711

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CNST for disorders           About GeneDecksing

    OMIM gene information: 613439    OMIM disorders: --

    4 diseases for CNST:    About MalaCards
    spinal cord lymphoma    spinal cancer    toxoplasmosis    cerebritis


    Export disorders for CNST gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CNST gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with CNST)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins. (PubMed id 19864490)1, 2, 3 del Castillo F.J.... Petit C. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Protein phosphatase 1a interacting proteins in the hum an brain. (PubMed id 22321011)1 Esteves S.L....da Cruz e Silva E.F. (2012)
    4. Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (2011)
    5. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PubMed id 19389623)1 Hendrickx A.... Bollen M. (2009)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 163882 HGNC: 26486 AceView: FLJ32001 Ensembl:ENSG00000162852 euGenes: HUgn163882
    ECgene: CNST H-InvDB: CNST

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CNST Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CNST gene:
    Search GeneIP for patents involving CNST

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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