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COPZ1 Gene

protein-coding   GIFtS: 59
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)
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Aliases
Coatomer Protein Complex, Subunit Zeta 11 2     HSPC1812
COPZ1 2 3 5     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   OMIM: 6154725   UniProtKB: P619233   

Export aliases for COPZ1 gene to outside databases

Previous GC identifers: GC12P054846 GC12U900056 GC12P053005 GC12P051758


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the COPZ1 gene promoter:
         TBP   AML1a   TFIID   
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
1 PDB 3D structure from and Proteopedia for COPZ1:
2HF6 (3D)    
Secondary accessions: B4DHZ0 Q549N6 Q9Y3C3
Alternative splicing: 2 isoforms:  P61923-1   P61923-2   (No experimental confirmation available)

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

Explore proteomics data for COPZ1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys29, Lys39, Lys46, Lys51, Lys168, Lys172
  • Modification sites at PhosphoSitePlus

  • See COPZ1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    COPZ1 Human Recombinant Protein Products:

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    Novus Biologicals COPZ1 Proteins
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    Browse Proteins at Cloud-Clone Corp.

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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: Let us create your new Knockout/Knockin mouse model for COPZ1
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    miRNA
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    miRTarBase miRNAs that target COPZ1:
    hsa-mir-1 (MIRT023745), hsa-mir-423-5p (MIRT038152), hsa-let-7a-5p (MIRT052614)

    Block miRNA regulation of human, mouse, rat COPZ1 using miScript Target Protectors
    Selected qRT-PCR 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
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    GenScript: all cDNA clones in your preferred vector: COPZ1 (NM_016057)
    Sino Biological Human cDNA Clone for COPZ1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COPZ1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COPZ1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COPZ1_HUMAN, P61923: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol4
    cytoskeleton3
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0016020membrane ----
    GO:0030117membrane coat ----
    GO:0030126COPI vesicle coat ISS--

    COPZ1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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
    2COPI Mediated Transport
    COPI Mediated Transport0.31
    Golgi to ER Retrograde Transport0.00
    Cholesterol and Sphingolipids transport Transport from Golgi and ER to the apical membrane normal and CF 0.31
    3ER to Golgi Transport
    Delta508 CFTR traffic ER to Golgi in CF0.36
    Normal wtCFTR traffic ER to Golgi 0.36
    4Clathrin derived vesicle budding
    Membrane Trafficking0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    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


    1 Reactome Pathway for COPZ1
        COPI Mediated Transport



    COPZ1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COPZ1
    Interactions:

        Search GeneGlobe Interaction Network for COPZ1

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

    Selected Interacting proteins for COPZ1 (P619233 ENSP000002620614) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPG2Q9UBF23, ENSP000003939124I2D: score=7 STRING: ENSP00000393912
    ARCN1P484443, ENSP000002640284I2D: score=6 STRING: ENSP00000264028
    COPG1Q9Y6783, ENSP000003250024I2D: score=3 STRING: ENSP00000325002
    ERN1O754603, ENSP000004014454I2D: score=1 STRING: ENSP00000401445
    RAB6BQ9NRW13, ENSP000002852084I2D: score=1 STRING: ENSP00000285208
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    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:0015031protein transport ----

    COPZ1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected 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
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    Selected qRT-PCR 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
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      QuantiTect SYBR Green Assays in human, mouse, rat COPZ1
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 784):

    BU155420 BP372851 BM997288 BE395534 AA359676 BM915425 BM460181 CR611900 
    AA281457 BQ017620 CB529009 CR605663 BU178245 BQ436081 CA450063 BG388929 
    BM995220 BE741693 BQ008325 AA341780 CR591000 BX377482 CR599796 BM971624 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COPZ1 expression in normal human tissues (normalized intensities)      COPZ1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTCAGGAG
    COPZ1 Expression
    About this image


    COPZ1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
     
     Liver (Hepatobiliary System)
    COPZ1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COPZ1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.505652
        Custom PCR Arrays for COPZ1
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat COPZ1
    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for COPZ1 gene from Selected species (see all 21)    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 92.98(n)1
    100(a)1
      15 (58.74 cM)5
    564471  NM_019817.11  NP_062791.11 
     1032729185 
    lizard
    (Anolis carolinensis)
    Reptilia COPZ16
    coatomer protein complex, subunit zeta 1
    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 zetaCOP 64.44(n)
    63.03(a)
      39862  NM_140653.3  NP_648910.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F59E10.31 F59E10.3 59.02(n)
    56.47(a)
      174675  NM_063937.3  NP_496338.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RET3(YPL010W)4
    RET31
    Zeta subunit of the coatomer complex (COPI), which more4
    RET31
    50.68(n)1
    42.47(a)1
      16(535018-535587)4
    8560971, 4  NP_015315.11, 4 
    rice
    (Oryza sativa)
    Liliopsida Os05g04610001 Os05g0461000 54.76(n)
    43.45(a)
      4339020  NM_001062295.1  NP_001055760.1 


    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)
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    Paralogs for COPZ1 gene
    COPZ22  
    1 SIMAP similar gene for COPZ1 using alignment to 14 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COPZ1 (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

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 615472    OMIM disorders: --

    4 diseases for COPZ1:    About MalaCards
    menkes disease    intrahepatic cholangiocarcinoma    cholangiocarcinoma    malaria

    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)
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    PubMed articles for COPZ1 gene, integrated from 10 sources (see all 46):
    (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. (J. Mol. Biol. 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. (Genome Res. 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. (Genome Res. 2000)
    4. Identification and characterization of novel isoforms of COP I subunits. (PubMed id 11056392)1, 2 Futatsumori M.... Nakayama K. (J. Biochem. 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.-C. (Genome Res. 2000)
    6. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. (PubMed id 24026423)1 Shameer K....Kullo I.J. (Hum. Genet. 2014)
    7. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    8. 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. (Hum. Mol. Genet. 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 22818 HGNC: 2243 AceView: COPZ1 Ensembl:ENSG00000111481 euGenes: HUgn22818
    ECgene: COPZ1 H-InvDB: COPZ1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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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