Human Gene CNST (uc001ibp.3) Description and Page Index
  Description: Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.
RefSeq Summary (NM_152609): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:246,729,639-246,831,884 Size: 102,246 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr1:246,754,865-246,829,207 Size: 74,343 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:246,729,639-246,831,884)mRNA (may differ from genome)Protein (725 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CNST_HUMAN
DESCRIPTION: RecName: Full=Consortin;
FUNCTION: Required for targeting of connexins to the plasma membrane.
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).
INTERACTION: P62136:PPP1CA; NbExp=3; IntAct=EBI-750390, EBI-357253;
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.
SIMILARITY: Belongs to the CNST family.
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;

-  MalaCards Disease Associations
  MalaCards Gene Search: CNST
Diseases sorted by gene-association score: spinal cord lymphoma (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.49 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 341.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -172.90378-0.457 Picture PostScript Text
3' UTR -725.552677-0.271 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF15281 - Consortin C-terminus

ModBase Predicted Comparative 3D Structure on Q6PJW8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019902 phosphatase binding
GO:0071253 connexin binding

Biological Process:
GO:0010923 negative regulation of phosphatase activity
GO:0042998 positive regulation of Golgi to plasma membrane protein transport

Cellular Component:
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030133 transport vesicle
GO:0031410 cytoplasmic vesicle
GO:0032991 macromolecular complex
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BC036200 - Homo sapiens chromosome 1 open reading frame 71, mRNA (cDNA clone IMAGE:4828136), complete cds.
BC010228 - Homo sapiens chromosome 1 open reading frame 71, mRNA (cDNA clone MGC:18089 IMAGE:4151228), complete cds.
AK056563 - Homo sapiens cDNA FLJ32001 fis, clone NT2RP7009373.
AL834246 - Homo sapiens mRNA; cDNA DKFZp451A152 (from clone DKFZp451A152).
BX647629 - Homo sapiens mRNA; cDNA DKFZp451B077 (from clone DKFZp451B077).
AK074142 - Homo sapiens mRNA for FLJ00215 protein.
KJ900361 - Synthetic construct Homo sapiens clone ccsbBroadEn_09755 CNST gene, encodes complete protein.
AM392580 - Synthetic construct Homo sapiens clone IMAGE:100002157 for hypothetical protein (C1orf71 gene).
AM393329 - Synthetic construct Homo sapiens clone IMAGE:100002158 for hypothetical protein (C1orf71 gene).
DL491366 - Novel nucleic acids.
DL489996 - Novel nucleic acids.
JD066063 - Sequence 47087 from Patent EP1572962.
JD225188 - Sequence 206212 from Patent EP1572962.
CU679655 - Synthetic construct Homo sapiens gateway clone IMAGE:100021251 5' read C1orf71 mRNA.
KJ906446 - Synthetic construct Homo sapiens clone ccsbBroadEn_16116 CNST gene, encodes complete protein.
AK091739 - Homo sapiens cDNA FLJ34420 fis, clone HHDPC1000114.
AX747154 - Sequence 679 from Patent EP1308459.
DL491312 - Novel nucleic acids.
DL489946 - Novel nucleic acids.
JD530240 - Sequence 511264 from Patent EP1572962.
JD554022 - Sequence 535046 from Patent EP1572962.
JD050461 - Sequence 31485 from Patent EP1572962.
JD225138 - Sequence 206162 from Patent EP1572962.
JD442144 - Sequence 423168 from Patent EP1572962.
JD551086 - Sequence 532110 from Patent EP1572962.
JD565179 - Sequence 546203 from Patent EP1572962.
JD110015 - Sequence 91039 from Patent EP1572962.
JD350889 - Sequence 331913 from Patent EP1572962.
JD088050 - Sequence 69074 from Patent EP1572962.
JD464383 - Sequence 445407 from Patent EP1572962.
AK026365 - Homo sapiens cDNA: FLJ22712 fis, clone HSI13435.
JD446825 - Sequence 427849 from Patent EP1572962.
JD306048 - Sequence 287072 from Patent EP1572962.
JD565860 - Sequence 546884 from Patent EP1572962.
JD151201 - Sequence 132225 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C1orf71, CNST_HUMAN, NM_152609, NP_689822, Q5VSY9, Q5VTM7, Q6PJW8, Q8IYA9, Q8N3L5, Q8NB09, Q8TEI2, Q96MR5
UCSC ID: uc001ibp.3
RefSeq Accession: NM_152609
Protein: Q6PJW8 (aka CNST_HUMAN)
CCDS: CCDS1628.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_152609.2
exon count: 11CDS single in 3' UTR: no RNA size: 5233
ORF size: 2178CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4240.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
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