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Aliases for CNST Gene

Aliases for CNST Gene

  • Consortin, Connexin Sorting Protein 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 64 2 3
  • C1orf71 3 4
  • Chromosome 1 Open Reading Frame 71 2
  • Consortin 3
  • PPP1R64 3

External Ids for CNST Gene

Previous HGNC Symbols for CNST Gene

  • C1orf71

Previous GeneCards Identifiers for CNST Gene

  • GC01P244797
  • GC01P246730
  • GC01P217115

Summaries for CNST Gene

Entrez Gene Summary for CNST Gene

  • 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]

GeneCards Summary for CNST Gene

CNST (Consortin, Connexin Sorting Protein) is a Protein Coding gene. Diseases associated with CNST include Spinal Cord Lymphoma. GO annotations related to this gene include phosphatase binding and connexin binding.

UniProtKB/Swiss-Prot for CNST Gene

  • Required for targeting of connexins to the plasma membrane.

Gene Wiki entry for CNST Gene

Additional gene information for CNST Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNST Gene

Genomics for CNST Gene

Regulatory Elements for CNST Gene

Enhancers for CNST Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H246564 1.7 FANTOM5 ENCODE dbSUPER 20.2 +3.2 3226 9 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF670-ZNF695 ZNF669 AHCTF1 CNST ZNF496 ZNF124 ENSG00000227671 SMYD3 LINC01341 ENSG00000225300
GH01H246586 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.6 +21.6 21599 2 SOX13 PKNOX1 FOXA2 SAP130 GTF2E2 JUN ARID4B CEBPG THRB RARA CNST TFB2M ENSG00000225300
GH01H246575 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +14.7 14686 10 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 YY1 ZNF766 CNST SMYD3 ENSG00000225300 ZNF669 TFB2M
GH01H246595 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.1 +31.4 31424 5 FOXA2 RFX1 L3MBTL2 CEBPB MAX CEBPG BMI1 RAD21 NR2F2 FOXA1 CNST LINC01341 SMYD3 ENSG00000225300
GH01H246607 1.8 FANTOM5 Ensembl ENCODE dbSUPER 7.3 +42.6 42625 3 PKNOX1 FOXA2 SIN3A YY1 FOS ATF7 RUNX3 JUNB NFIL3 KDM1A CNST ENSG00000225300 LOC105373271
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNST on UCSC Golden Path with GeneCards custom track

Promoters for CNST Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000023120 63 3201 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF143

Genomic Location for CNST Gene

Chromosome:
1
Start:
246,566,337 bp from pter
End:
246,668,587 bp from pter
Size:
102,251 bases
Orientation:
Plus strand

Genomic View for CNST Gene

Genes around CNST on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNST Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNST Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNST Gene

Proteins for CNST Gene

  • Protein details for CNST Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PJW8-CNST_HUMAN
    Recommended name:
    Consortin
    Protein Accession:
    Q6PJW8
    Secondary Accessions:
    • Q5VSY9
    • Q5VTM7
    • Q8IYA9
    • Q8N3L5
    • Q8NB09
    • Q8TEI2
    • Q96MR5

    Protein attributes for CNST Gene

    Size:
    725 amino acids
    Molecular mass:
    79597 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=BAB84968.1; Type=Frameshift; Positions=237; Evidence={ECO:0000305}; Sequence=BAC03735.1; Type=Frameshift; Positions=412; Evidence={ECO:0000305}; Sequence=CAD38922.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CNST Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNST Gene

Post-translational modifications for CNST Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CNST Gene

Domains & Families for CNST Gene

Gene Families for CNST Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CNST Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNST Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PJW8

UniProtKB/Swiss-Prot:

CNST_HUMAN :
  • Belongs to the CNST family.
Family:
  • Belongs to the CNST family.
genes like me logo Genes that share domains with CNST: view

Function for CNST Gene

Molecular function for CNST Gene

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

Gene Ontology (GO) - Molecular Function for CNST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19389623
GO:0019902 phosphatase binding IDA 19389623
GO:0071253 connexin binding IEA,ISS --
genes like me logo Genes that share ontologies with CNST: view
genes like me logo Genes that share phenotypes with CNST: view

Animal Model Products

CRISPR Products

miRNA for CNST Gene

miRTarBase miRNAs that target CNST

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CNST
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNST Gene

Localization for CNST Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNST Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNST gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
nucleus 3
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CNST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 19864490
GO:0005886 plasma membrane IDA,IEA 19864490
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CNST: view

Pathways & Interactions for CNST Gene

No Data Available

Gene Ontology (GO) - Biological Process for CNST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0042998 positive regulation of Golgi to plasma membrane protein transport IEA,IMP 19864490
genes like me logo Genes that share ontologies with CNST: view

No data available for Pathways by source and SIGNOR curated interactions for CNST Gene

Drugs & Compounds for CNST Gene

No Compound Related Data Available

Transcripts for CNST Gene

Unigene Clusters for CNST Gene

Consortin, connexin sorting protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CNST
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CNST Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12
SP1: - -
SP2: - - - - -
SP3: - - -
SP4: - - - - -
SP5: - -
SP6:
SP7:
SP8:

Relevant External Links for CNST Gene

GeneLoc Exon Structure for
CNST
ECgene alternative splicing isoforms for
CNST

Expression for CNST Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CNST Gene

Protein differential expression in normal tissues from HIPED for CNST Gene

This gene is overexpressed in Platelet (26.1), Peripheral blood mononuclear cells (23.4), and Testis (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CNST Gene



Protein tissue co-expression partners for CNST Gene

NURSA nuclear receptor signaling pathways regulating expression of CNST Gene:

CNST

SOURCE GeneReport for Unigene cluster for CNST Gene:

Hs.368353

Evidence on tissue expression from TISSUES for CNST Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Muscle(4.2)
  • Spleen(4.2)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with CNST: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNST Gene

Orthologs for CNST Gene

This gene was present in the common ancestor of chordates.

Orthologs for CNST Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNST 33 34
  • 96.29 (n)
cow
(Bos Taurus)
Mammalia CNST 33 34
  • 87.47 (n)
dog
(Canis familiaris)
Mammalia CNST 33 34
  • 80.89 (n)
rat
(Rattus norvegicus)
Mammalia Cnst 33
  • 77.04 (n)
mouse
(Mus musculus)
Mammalia Cnst 33 16 34
  • 76.26 (n)
oppossum
(Monodelphis domestica)
Mammalia CNST 34
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNST 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNST 33 34
  • 62.79 (n)
lizard
(Anolis carolinensis)
Reptilia CNST 34
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnst 33
  • 55.47 (n)
zebrafish
(Danio rerio)
Actinopterygii cnstb 34
  • 36 (a)
OneToMany
cnsta 34
  • 30 (a)
OneToMany
Species where no ortholog for CNST was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CNST Gene

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

Paralogs for CNST Gene

No data available for Paralogs for CNST Gene

Variants for CNST Gene

Sequence variations from dbSNP and Humsavar for CNST Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000012700 -- 246,586,494(+) ATATA(A/C)ATAAT intron-variant
rs1000023305 -- 246,598,047(+) GTGCT(C/T)GTGGC intron-variant, downstream-variant-500B
rs1000052529 -- 246,599,696(+) TATAA(A/G)TTCTG intron-variant
rs1000130580 -- 246,651,272(+) CTCCA(A/C)GCTGC intron-variant
rs1000138294 -- 246,590,529(+) TGGTA(G/T)AGGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNST Gene

Variant ID Type Subtype PubMed ID
dgv33n21 CNV gain 19592680
esv1262343 CNV insertion 17803354
esv1713139 CNV insertion 17803354
esv2499098 CNV insertion 19546169
esv2621871 CNV insertion 19546169
esv26600 CNV loss 19812545
esv2667587 CNV deletion 23128226
esv2727496 CNV deletion 23290073
esv2727507 CNV deletion 23290073
esv2759012 CNV gain 17122850
esv2762191 CNV gain 21179565
esv2762192 CNV gain 21179565
esv3381478 CNV duplication 20981092
esv3575861 CNV gain 25503493
esv3589483 CNV gain 21293372
nsv1010453 CNV gain 25217958
nsv428346 CNV gain 18775914
nsv509746 CNV insertion 20534489
nsv509757 CNV insertion 20534489
nsv5254 CNV insertion 18451855
nsv528615 CNV gain 19592680
nsv9047 CNV loss 18304495
nsv945430 CNV duplication 23825009
nsv945431 CNV duplication 23825009

Variation tolerance for CNST Gene

Residual Variation Intolerance Score: 69.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNST Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNST

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNST Gene

Disorders for CNST Gene

MalaCards: The human disease database

(1) MalaCards diseases for CNST Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinal cord lymphoma
  • lymphoma of the spinal cord
- elite association - COSMIC cancer census association via MalaCards
Search CNST in MalaCards View complete list of genes associated with diseases

Relevant External Links for CNST

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNST
genes like me logo Genes that share disorders with CNST: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNST Gene

Publications for CNST Gene

  1. Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins. (PMID: 19864490) del Castillo FJ … Petit C (Human molecular genetics 2010) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60

Products for CNST Gene

Sources for CNST Gene

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