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Aliases for COPZ1 Gene

Aliases for COPZ1 Gene

  • Coatomer Protein Complex Subunit Zeta 1 2 3 5
  • Coatomer Protein Complex, Subunit Zeta 2 3
  • Zeta-1-Coat Protein 3 4
  • Zeta-1 COP 3 4
  • COPZ 3 4
  • Coatomer Protein Complex, Subunit Zeta 1 2
  • Coatomer Subunit Zeta-1 3
  • Zeta1-COP 3
  • Zeta-COP 3
  • CGI-120 3
  • HSPC181 3

External Ids for COPZ1 Gene

Previous HGNC Symbols for COPZ1 Gene

  • COPZ

Previous GeneCards Identifiers for COPZ1 Gene

  • GC12P054846
  • GC12U900056
  • GC12P053005
  • GC12P054718
  • GC12P051758

Summaries for COPZ1 Gene

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 Neurodegeneration With Brain Iron Accumulation 6. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. An important paralog of this gene is COPZ2.

UniProtKB/Swiss-Prot for COPZ1 Gene

  • 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).

  • 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

Additional gene information for COPZ1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COPZ1 Gene

Genomics for COPZ1 Gene

GeneHancer (GH) Regulatory Elements for COPZ1 Gene

Promoters and enhancers for COPZ1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I054323 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 550.3 +26.7 26685 8.3 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 COPZ1 ENSG00000258344 SP1 PCBP2 ATF7 HOXC8 HOXC9 HNRNPA1 ENSG00000258086 TARBP2
GH12I054277 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.8 -20.1 -20137 7.1 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC CBX5 HNRNPA1 SP1 PCBP2 MAP3K12 AAAS ENSG00000258344 COPZ1 ATF7 TARBP2
GH12I054009 Promoter/Enhancer 3.2 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 -279.1 -279106 25.8 HDGF PKNOX1 SMAD1 ARNT SIN3A FEZF1 ZNF2 POLR2B CBX5 ZNF213 HOXC4 HOXC6 HOXC5 GC12P054071 PIR59725 PIR53546 PIR59985 PIR46464 GC12P054093 AAAS
GH12I054381 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.3 +85.5 85539 10.5 HDGF PKNOX1 CLOCK IRF4 FOS SP3 ZNF592 SMARCA4 GLIS1 ZNF624 ZNF385A GPR84 MAP3K12 MIR148B ITGA5 RNU6-950P COPZ1 GTSF1 FLJ12825 ENSG00000258086
GH12I053622 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.7 -676.1 -676067 5 CLOCK MLX DMAP1 YBX1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC ATF7 ENSG00000267281 SP1 EIF4B ATP5MC2 PCBP2 AAAS ITGB7 HNRNPA1 ENSG00000258344
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COPZ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COPZ1 gene promoter:

Genomic Locations for COPZ1 Gene

Genomic Locations for COPZ1 Gene
chr12:54,301,202-54,351,851
(GRCh38/hg38)
Size:
50,650 bases
Orientation:
Plus strand
chr12:54,694,986-54,745,633
(GRCh37/hg19)

Genomic View for COPZ1 Gene

Genes around COPZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COPZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COPZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COPZ1 Gene

Proteins for COPZ1 Gene

  • Protein details for COPZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61923-COPZ1_HUMAN
    Recommended name:
    Coatomer subunit zeta-1
    Protein Accession:
    P61923
    Secondary Accessions:
    • B4DDX8
    • B4DHZ0
    • F8VS17
    • F8VWL5
    • Q549N6
    • Q9Y3C3

    Protein attributes for COPZ1 Gene

    Size:
    177 amino acids
    Molecular mass:
    20198 Da
    Quaternary structure:
    • Oligomeric complex that consists of at least the alpha, beta, beta, gamma, delta, epsilon and zeta subunits.

    Three dimensional structures from OCA and Proteopedia for COPZ1 Gene

    Alternative splice isoforms for COPZ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COPZ1 Gene

Post-translational modifications for COPZ1 Gene

  • Ubiquitination at posLast=2929, posLast=3939, posLast=4646, posLast=5151, posLast=168168, and Lys172

No data available for DME Specific Peptides for COPZ1 Gene

Domains & Families for COPZ1 Gene

Gene Families for COPZ1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P61923

UniProtKB/Swiss-Prot:

COPZ1_HUMAN :
  • Belongs to the adaptor complexes small subunit family.
Family:
  • Belongs to the adaptor complexes small subunit family.
genes like me logo Genes that share domains with COPZ1: view

Function for COPZ1 Gene

Molecular function for COPZ1 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot 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 From GWAS Catalog for COPZ1 Gene

genes like me logo Genes that share phenotypes with COPZ1: view

Animal Model Products

Clone Products

  • Addgene plasmids for COPZ1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COPZ1 Gene

Localization for COPZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COPZ1 Gene

Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, COPI-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. {ECO:0000250}.

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 COPZ1 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
cytoskeleton 3
nucleus 2
endosome 1

Gene Ontology (GO) - Cellular Components for COPZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with COPZ1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COPZ1 Gene

Pathways & Interactions for COPZ1 Gene

genes like me logo Genes that share pathways with COPZ1: view

Gene Ontology (GO) - Biological Process for COPZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS 11030615
GO:0006891 intra-Golgi vesicle-mediated transport ISS --
genes like me logo Genes that share ontologies with COPZ1: view

No data available for SIGNOR curated interactions for COPZ1 Gene

Drugs & Compounds for COPZ1 Gene

(1) Drugs for COPZ1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with COPZ1: view

Transcripts for COPZ1 Gene

Unigene Clusters for COPZ1 Gene

Coatomer protein complex, subunit zeta 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for COPZ1

Alternative Splicing Database (ASD) splice patterns (SP) for COPZ1 Gene

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

Relevant External Links for COPZ1 Gene

GeneLoc Exon Structure for
COPZ1
ECgene alternative splicing isoforms for
COPZ1

Expression for COPZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COPZ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COPZ1 Gene



Protein tissue co-expression partners for COPZ1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COPZ1 Gene:

COPZ1

SOURCE GeneReport for Unigene cluster for COPZ1 Gene:

Hs.505652

Evidence on tissue expression from TISSUES for COPZ1 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Blood(4.2)
  • Lung(3.5)
  • Intestine(3.3)
  • Kidney(2.7)
  • Thyroid gland(2.5)
  • Eye(2.3)
  • Heart(2.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with COPZ1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COPZ1 Gene

Orthologs for COPZ1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COPZ1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia COPZ1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COPZ1 33 34
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia COPZ1 33 34
  • 96.88 (n)
mouse
(Mus musculus)
Mammalia Copz1 33 16 34
  • 92.98 (n)
rat
(Rattus norvegicus)
Mammalia Copz1 33
  • 92.01 (n)
lizard
(Anolis carolinensis)
Reptilia COPZ1 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75577 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.22784 33
zebrafish
(Danio rerio)
Actinopterygii copz1 33 34
  • 80.31 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9606 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006522 33
  • 66.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta zetaCOP 33 34
  • 64.44 (n)
worm
(Caenorhabditis elegans)
Secernentea F59E10.3 33
  • 59.02 (n)
copz-1 34
  • 53 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL016C 33
  • 51.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RET3 33 34 36
  • 50.68 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27313g 33
  • 48.43 (n)
rice
(Oryza sativa)
Liliopsida Os05g0461000 33
  • 54.76 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5770 34
  • 68 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ret3 33
  • 52.04 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02538 33
  • 51.31 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3964 33
Species where no ortholog for COPZ1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for COPZ1 Gene

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

Paralogs for COPZ1 Gene

Paralogs for COPZ1 Gene

genes like me logo Genes that share paralogs with COPZ1: view

Variants for COPZ1 Gene

Sequence variations from dbSNP and Humsavar for COPZ1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000062469 -- 54,334,627(+) G/C intron_variant
rs1000088423 -- 54,334,377(+) C/T intron_variant
rs1000222358 -- 54,331,174(+) TTTTTTTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTT intron_variant
rs1000310747 -- 54,341,038(+) C/T intron_variant
rs1000695211 -- 54,328,690(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for COPZ1 Gene

Variant ID Type Subtype PubMed ID
nsv559000 CNV loss 21841781
nsv520202 CNV loss 19592680
nsv1049160 CNV gain 25217958

Variation tolerance for COPZ1 Gene

Residual Variation Intolerance Score: 61.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COPZ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COPZ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COPZ1 Gene

Disorders for COPZ1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COPZ1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
neurodegeneration with brain iron accumulation 6
  • nbia6
- elite association - COSMIC cancer census association via MalaCards
Search COPZ1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COPZ1

genes like me logo Genes that share disorders with COPZ1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COPZ1 Gene

Publications for COPZ1 Gene

  1. Solution structure of human zeta-COP: direct evidences for structural similarity between COP I and clathrin-adaptor coats. (PMID: 19167404) Yu W … Xia B (Journal of molecular biology 2009) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4 58
  4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 58
  5. Identification and characterization of novel isoforms of COP I subunits. (PMID: 11056392) Futatsumori M … Nakayama K (Journal of biochemistry 2000) 3 4 58

Products for COPZ1 Gene

  • Addgene plasmids for COPZ1

Sources for COPZ1 Gene

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