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

COPZ1 Gene

protein-coding   GIFtS: 56
GCID: GC12P054718

Coatomer Protein Complex, Subunit Zeta 1

(Previous names: coatomer protein complex, subunit zeta)
(Previous symbol: COPZ)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Coatomer Protein Complex, Subunit Zeta 11 2     HSPC1812
COPZ1 2 3     Coatomer Subunit Zeta-12
Zeta-1 COP2 3     zeta-COP2
Zeta-1-Coat Protein2 3     zeta1-COP2
Coatomer Protein Complex, Subunit Zeta1     

External Ids:    HGNC: 22431   Entrez Gene: 228182   Ensembl: ENSG000001114817   UniProtKB: P619233   

Export aliases for COPZ1 gene to outside databases

Previous GC identifers: GC12P054846 GC12U900056 GC12P053005 GC12P051758


(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 COPZ1 Gene:
This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and
intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as
the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Nov 2012)

GeneCards Summary for COPZ1 Gene: 
COPZ1 (coatomer protein complex, subunit zeta 1) is a protein-coding gene. Diseases associated with COPZ1 include menkes disease, and intrahepatic cholangiocarcinoma, and among its related super-pathways are Clathrin-dependent protein traffic and Golgi to ER Retrograde Transport. An important paralog of this gene is COPZ2.

UniProtKB/Swiss-Prot: COPZ1_HUMAN, P61923
Function: The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with
Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the
Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is
essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only
be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins;
the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic
recycling of LDL receptors (By similarity)
Function: The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic
protein transport due to its association-dissociation properties with the coatomer complex

Gene Wiki entry for COPZ1 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COPZ1 gene promoter:
         TBP   AML1a   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOPZ1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COPZ1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COPZ1


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

Entrez Gene cytogenetic band: 12q13.2-q13.3   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.2-q13.3

COPZ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COPZ1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P054718:  view genomic region     (about GC identifiers)

Start:
54,694,986 bp from pter      End:
54,745,633 bp from pter
Size:
50,648 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: COPZ1_HUMAN, P61923 (See protein sequence)
Recommended Name: Coatomer subunit zeta-1  
Size: 177 amino acids; 20198 Da
Subunit: Oligomeric complex that consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta
subunits
Subcellular location: Cytoplasm (By similarity). Golgi apparatus membrane; Peripheral membrane protein;
Cytoplasmic side (By similarity). Cytoplasmic vesicle, COPI-coated vesicle membrane; Peripheral membrane protein;
Cytoplasmic side (By similarity). Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the
Golgi, as well as on the vesicles/buds originating from it (By similarity)
1 PDB 3D structure from and Proteopedia for COPZ1:
2HF6 (3D)    
Secondary accessions: Q549N6 Q9Y3C3

Explore the universe of human proteins at neXtProt for COPZ1: NX_P61923

Explore proteomics data for COPZ1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P61923

  • COPZ1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COPZ1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001258663.1  NP_001258664.1  NP_001258665.1  NP_057141.1  

    ENSEMBL proteins: 
     ENSP00000449414   ENSP00000262061   ENSP00000449270   ENSP00000447100   ENSP00000449341  
     ENSP00000448997   ENSP00000448444   ENSP00000410620   ENSP00000448005   ENSP00000448235  
     ENSP00000449108   ENSP00000448945   ENSP00000449072   ENSP00000388141  
    Reactome Protein details: P61923
    Human Recombinant Protein Products for COPZ1: 
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    Novus Biologicals COPZ1 Proteins
    Novus Biologicals COPZ1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for COPZ1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0030117membrane coat ----
    GO:0030126COPI vesicle coat ISS--

    COPZ1 for ontologies           About GeneDecksing



    COPZ1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for COPZ1 

    Assay Products for COPZ1: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR000804 Clathrin_sm-chain_CS
     IPR022775 AP_mu_sigma_su
     IPR011012 Longin-like_dom

    Graphical View of Domain Structure for InterPro Entry P61923

    ProtoNet protein and cluster: P61923

    1 Blocks protein domain: IPB000804 Clathrin adaptor complex

    UniProtKB/Swiss-Prot: COPZ1_HUMAN, P61923
    Similarity: Belongs to the adaptor complexes small subunit family


    COPZ1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COPZ1_HUMAN, P61923
    Function: The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with
    Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the
    Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is
    essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only
    be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins;
    the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic
    recycling of LDL receptors (By similarity)
    Function: The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic
    protein transport due to its association-dissociation properties with the coatomer complex

    Phenotypes:
         9 GenomeRNAi human phenotypes for COPZ1:

     Decreased Hepatitis C virus re  Decreased Wnt reporter activit  Decreased influenza A virus in  Decreased viability 
     Decreased viability of wild-ty  G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for COPZ1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COPZ1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COPZ1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COPZ1 

    miRNA
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    hsa-miR-148b* hsa-miR-125a-5p hsa-miR-449a hsa-miR-125b hsa-miR-3148 hsa-miR-2113 hsa-miR-4324 hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidCOPZ1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COPZ1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COPZ1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic0.66
    wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    Transport Clathrin-coated vesicle cycle0.66
    2Golgi to ER Retrograde Transport
    Golgi to ER Retrograde Transport0.31
    COPI Mediated Transport0.31
    Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)0.31
    3COPII (Coat Protein 2) Mediated Vesicle Transport
    Delta508-CFTR traffic / ER-to-Golgi in CF0.36
    Normal wtCFTR traffic / ER-to-Golgi 0.36
    4Membrane Trafficking
    Membrane Trafficking0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for COPZ1
        Clathrin-dependent protein traffic


    5 GeneGo (Thomson Reuters) Pathways for COPZ1
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Delta508-CFTR traffic / ER-to-Golgi in CF
    Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)
    Normal wtCFTR traffic / ER-to-Golgi
    Transport Clathrin-coated vesicle cycle


    3        Reactome Pathways for COPZ1
        Membrane Trafficking
    COPI Mediated Transport
    Golgi to ER Retrograde Transport



    COPZ1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COPZ1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/52 Interacting proteins for COPZ1 (P619233 ENSP000002620614) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPG2Q9UBF23, ENSP000003939124I2D: score=7 STRING: ENSP00000393912
    ARCN1P484443, ENSP000002640284I2D: score=6 STRING: ENSP00000264028
    COPG1Q9Y6783, ENSP000003250024I2D: score=3 STRING: ENSP00000325002
    COPB1P536183, ENSP000002499234I2D: score=6 STRING: ENSP00000249923
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006886intracellular protein transport IEA--
    GO:0006890retrograde vesicle-mediated transport, Golgi to ER TAS11030615
    GO:0006891intra-Golgi vesicle-mediated transport ISS--
    GO:0016192vesicle-mediated transport ----

    COPZ1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 COPZ1

    1 HMDB Compound for COPZ1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about COPZ1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for COPZ1 gene (4 alternative transcripts): 
    NM_001271734.1  NM_001271735.1  NM_001271736.1  NM_016057.2  

    Unigene Cluster for COPZ1:

    Coatomer protein complex, subunit zeta 1
    Hs.505652  [show with all ESTs]
    Unigene Representative Sequence: NM_001271736
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000552848 ENST00000548076 ENST00000553009 ENST00000262061(uc001sfs.1 uc001sft.2 uc009znm.1 uc010sot.1)
    ENST00000549043 ENST00000551962 ENST00000552218 ENST00000551412 ENST00000550027
    ENST00000553231 ENST00000552362 ENST00000455864 ENST00000550171 ENST00000549116
    ENST00000551779 ENST00000548281 ENST00000548753 ENST00000550713
    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate COPZ1 (see all 21):
    hsa-miR-148b* hsa-miR-125a-5p hsa-miR-449a hsa-miR-125b hsa-miR-3148 hsa-miR-2113 hsa-miR-4324 hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidCOPZ1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COPZ1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COPZ1
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COPZ1

    Additional mRNA sequence: 

    AB047848.1 AF086911.1 AF151878.1 AF161529.1 AK025956.1 AK026190.1 AK223188.1 AK293377.1 
    AK295325.1 AK311027.1 BC002849.2 NR_073424.1 

    24/26 DOTS entries (see all 26):

    DT.97857366  DT.100857164  DT.456280  DT.100857159  DT.100857141  DT.121207167  DT.95261553  DT.95260956 
    DT.95217757  DT.100857156  DT.100032011  DT.100836521  DT.100857165  DT.121207200  DT.91688702  DT.91812521 
    DT.95294234  DT.121207149  DT.121207170  DT.121207195  DT.95261534  DT.95261550  DT.95261552  DT.95261554 

    24/784 AceView cDNA sequences (see all 784):

    BU155420 CA445906 BP372851 BM997288 BE395534 AA359676 CR599796 BM971624 
    AW316563 BP337051 BM970044 BU660045 AA558444 CB142910 AI753173 CR611806 
    BU754324 BQ214984 AI333820 CB105556 CD742624 AU077180 CA945066 BM986900 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for COPZ1 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for COPZ1

    (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

    COPZ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTCAGGAG
    COPZ1 Expression
    About this image


    See COPZ1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COPZ1

    SOURCE GeneReport for Unigene cluster: Hs.505652
        SABiosciences Custom PCR Arrays for COPZ1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COPZ1

    (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 eukaryotes.

    Orthologs for COPZ1 gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Copz11 , 5 coatomer protein complex, subunit zeta 11, 5 93.22(n)1
    100(a)1
      15 (58.74 cM)5
    564471  NM_019817.11  NP_062791.11 
     1032729185 
    lizard
    (Anolis carolinensis)
    Reptilia COPZ16
    Uncharacterized protein
    94(a)
    1 ↔ 1
    2(71191196-71199537)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.227842 Xenopus laevis, Similar to coatomer protein complex, more 80.52(n)    BC047988.1 
    zebrafish
    (Danio rerio)
    Actinopterygii copz12 coatomer protein complex, subunit zeta 1 80.14(n)   57970  AB040044.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta zetaCOP1 CG3948-PA 64.04(n)
    63.64(a)
      39862  NM_140653.3  NP_648910.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F59E10.31 Protein F59E10.3 58.97(n)
    56.8(a)
      174675  NM_063937.2  NP_496338.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RET3(YPL010W)4
    RET31
    Zeta subunit of the coatomer complex (COPI), which more4
    Ret3p1
    51.56(n)1
    43.88(a)1
      16(535018-535587)4
    8560971, 4  NP_015315.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G609701 coatomer subunit zeta-1 53.54(n)
    46.67(a)
      842388  NM_104777.3  NP_564767.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g03174001 hypothetical protein 52.61(n)
    45.78(a)
      4329152  NM_001053207.1  NP_001046672.1 


    ENSEMBL Gene Tree for COPZ1 (if available)
    TreeFam Gene Tree for COPZ1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COPZ1 gene
    COPZ22  
    1 SIMAP similar gene for COPZ1 using alignment to 15 protein entries:     COPZ1_HUMAN (see all proteins):
    COPZ2

    COPZ1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/538 SNPs in COPZ1 are shown (see all 538)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1906458911,2
    --54716913(+) GCGGGA/CGGATC 5 -- us2k10--------
    rs1831925661,2
    --54716987(+) CAAAAA/TATCAG 5 -- us2k10--------
    rs731133501,2
    C--54717230(+) TTTAGA/GATAAT 5 -- us2k10--------
    rs125782241,2
    C,H--54717282(+) AGGAAA/GCCAAG 5 -- us2k15Minor allele frequency- G:0.13NA CSA WA EA 362
    rs2020883681,2
    --54717404(+) TTCCT-/TCTC  
            
    TCTCT
    5 -- us2k10--------
    rs111708671,2
    --54717410(+) TCTCTC/TTCTTT 5 -- us2k1 trp30--------
    rs2015232521,2
    C--54717449(+) CTTTCC/TTTCCT 5 -- us2k10--------
    rs1492061881,2
    C--54717450(+) TTTCT-/TTCCT 
     TCCTTCC
    TTCCT
    5 -- us2k10--------
    rs571181371,2
    C--54717452(+) CTTTC-/TTTCTTTCCTT
    C
    /TTTCTTTCTTTC
    CTTCC
    9 -- cds1 us2k11NA 2
    rs128121481,2
    C--54717453(+) CTTTCC/TTTCCT 5 -- us2k1 trp30--------

    HapMap Linkage Disequilibrium report for COPZ1 (54694986 - 54745633 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for COPZ1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv520202CNV Loss19592680

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COPZ1
    DNA2.0 Custom Variant and Variant Library Synthesis for COPZ1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    3 diseases for COPZ1:    About MalaCards
    menkes disease    intrahepatic cholangiocarcinoma    cholangiocarcinoma

    1 disease from the University of Copenhagen DISEASES database for COPZ1:
    Menkes disease

    COPZ1 for disorders           About GeneDecksing


    Export disorders for COPZ1 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 COPZ1 gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with COPZ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Solution structure of human zeta-COP: direct evidences for structural similarity between COP I and clathrin-adaptor coats. (PubMed id 19167404)1, 2 Yu W....Xia B. (2009)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    4. Identification and characterization of novel isoforms of COP I subunits. (PubMed id 11056392)1, 2 Futatsumori M.... Nakayama K. (2000)
    5. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.H....Lin W. (2000)
    6. Bcl2-associated Athanogene 3 Interactome Analysis Reve als a New Role in Modulating Proteasome Activity. (PubMed id 23824909)1 Chen Y....Ge F. (2013)
    7. GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. (PubMed id 23263863)1 Li J....Sleiman P.M. (2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22818 HGNC: 2243 AceView: COPZ1 Ensembl:ENSG00000111481 euGenes: HUgn22818
    ECgene: COPZ1 H-InvDB: COPZ1

    (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 COPZ1 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 COPZ1 gene:
    Search GeneIP for patents involving COPZ1

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



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    About This Section

     
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     Regulatory tfbs in COPZ1 promoter
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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