This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to t... See more...

Aliases for COPB1 Gene

Aliases for COPB1 Gene

  • COPI Coat Complex Subunit Beta 1 2 3 5
  • Coatomer Subunit Beta 3 4
  • COPB 3 4
  • Coatomer Protein Complex, Subunit Beta 1 2
  • Coatomer Protein Complex Subunit Beta 1 3
  • Coatomer Protein Complex, Subunit Beta 2
  • Beta Coat Protein 3
  • Beta-Coat Protein 4
  • Beta-Cop 3
  • Beta-COP 4
  • COPB1 5

External Ids for COPB1 Gene

Previous HGNC Symbols for COPB1 Gene

  • COPB

Previous GeneCards Identifiers for COPB1 Gene

  • GC11M014160

Summaries for COPB1 Gene

Entrez Gene Summary for COPB1 Gene

  • This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

GeneCards Summary for COPB1 Gene

COPB1 (COPI Coat Complex Subunit Beta 1) is a Protein Coding gene. Diseases associated with COPB1 include Parainfluenza Virus Type 3 and Middle Ear Disease. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include binding and structural molecule activity.

UniProtKB/Swiss-Prot Summary for COPB1 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. Plays a functional role in facilitating the transport of kappa-type opioid receptor mRNAs into axons and enhances translation of these proteins. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte surface triglyceride lipase (PNPLA2) with the lipid droplet to mediate lipolysis (By similarity). Involved in the Golgi disassembly and reassembly processes during cell cycle. Involved in autophagy by playing a role in early endosome function. Plays a role in organellar compartmentalization of secretory compartments including endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC), Golgi, trans-Golgi network (TGN) and recycling endosomes, and in biosynthetic transport of CAV1. Promotes degradation of Nef cellular targets CD4 and MHC class I antigens by facilitating their trafficking to degradative compartments.

Gene Wiki entry for COPB1 Gene

Additional gene information for COPB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COPB1 Gene

Genomics for COPB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COPB1 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
GH11J014498 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 610.3 +0.2 194 3.7 SP1 HNRNPL CREB1 GATAD2A REST TFE3 ZNF512 SOX13 NFKBIZ POLR2A COPB1 lnc-PSMA1-3 RNU7-49P MN309230 ENSG00000256206 RRAS2
GH11J014642 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.7 -145.4 -145363 6 CEBPG GATAD2A PRDM10 ZNF629 RFX1 NFKBIZ KDM1A JUND PRDM1 MTA2 PSMA1 PDE3B lnc-PSMA1-1 COPB1 piR-50437-070 CYP2R1
GH11J015075 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 18.6 -574.4 -574374 2.4 CTCF PRDM10 ZNF629 KDM1A ZNF692 ZNF143 ZIC2 PATZ1 REST RAD21 CALCB COPB1 CYP2R1 CALCA INSC lnc-INSC-4 piR-36668-002
GH11J014890 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.3 -391.6 -391574 2.8 RNF2 SP1 GATAD2A PRDM10 TFE3 IKZF1 KDM1A ZNF692 POLR2A FOS CYP2R1 lnc-CALCA-2 lnc-CALCB-1 COPB1 PDE3B
GH11J014335 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 13.3 +160.9 160937 9.4 CREB1 GATAD2A TEAD4 ZNF629 LEF1 SOX13 JUND ZNF143 PKNOX1 ZNF24 RRAS2 COPB1 CYP2R1 L13714-048 SPON1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COPB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COPB1

Top Transcription factor binding sites by QIAGEN in the COPB1 gene promoter:
  • Gfi-1
  • Lmo2
  • Msx-1
  • p53

Genomic Locations for COPB1 Gene

Genomic Locations for COPB1 Gene
chr11:14,443,440-14,500,027
(GRCh38/hg38)
Size:
56,588 bases
Orientation:
Minus strand
chr11:14,464,986-14,521,573
(GRCh37/hg19)
Size:
56,588 bases
Orientation:
Minus strand

Genomic View for COPB1 Gene

Genes around COPB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COPB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COPB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COPB1 Gene

Proteins for COPB1 Gene

  • Protein details for COPB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53618-COPB_HUMAN
    Recommended name:
    Coatomer subunit beta
    Protein Accession:
    P53618
    Secondary Accessions:
    • D3DQX0
    • Q6GTT7
    • Q9NTK2
    • Q9UNW7

    Protein attributes for COPB1 Gene

    Size:
    953 amino acids
    Molecular mass:
    107142 Da
    Quaternary structure:
    • Oligomeric complex that consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Interacts with SCYL1. Interacts with COPG1. Interacts (via trunk domain) with ARF1 (via switch I region); the interaction is direct. Interacts with KCNK2/TREK (via N-terminus); this interaction increases the channel-mediated whole cell currents and promotes plasma membrane expression of KCNK2/TREK. Interacts with anthrax lethal factor (LF); this interaction may facilitate endosomal vesicle membrane translocation of LF and its release from the lumen of endosomal vesicles to external milieu. Interacts with CAPN8 and PRKCE (By similarity). Interacts with ARF1 (myristoylated); this interaction is required for binding of COPB1 to Golgi membranes (By similarity). Interacts with STX17 (By similarity). Interacts with TMEM115. Interacts with HLA-G-B2M complex; this interaction mediates the endoplasmic reticulum (ER) retrieval of HLA-E-B2M complexes that bind low affinity peptides. Interacts with TMEM41B (PubMed:30352685).
    • (Microbial infection) Interacts (via C-terminus) with HIV-1 Nef; the interaction is direct.
    Miscellaneous:
    • Brefeldin A induces dissociation from the Golgi of the beta-COP and presumably the other coatomer subunits.

neXtProt entry for COPB1 Gene

Post-translational modifications for COPB1 Gene

  • Proteolytically cleaved between Ser-528 and Ser-529 by CAPN8.
  • Ubiquitination at Lys107, Lys128, Lys633, Lys771, Lys786, Lys913, and Lys943
  • Modification sites at PhosphoSitePlus

Other Protein References for COPB1 Gene

No data available for DME Specific Peptides for COPB1 Gene

Domains & Families for COPB1 Gene

Gene Families for COPB1 Gene

Protein Domains for COPB1 Gene

InterPro:
Blocks:
  • Protein of unknown function DUF1606
  • Adaptin, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for COPB1 Gene

GenScript: Design optimal peptide antigens:
  • Beta-coat protein (COPB_HUMAN)
genes like me logo Genes that share domains with COPB1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for COPB1 Gene

Function for COPB1 Gene

Molecular function for COPB1 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. Plays a functional role in facilitating the transport of kappa-type opioid receptor mRNAs into axons and enhances translation of these proteins. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte surface triglyceride lipase (PNPLA2) with the lipid droplet to mediate lipolysis (By similarity). Involved in the Golgi disassembly and reassembly processes during cell cycle. Involved in autophagy by playing a role in early endosome function. Plays a role in organellar compartmentalization of secretory compartments including endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC), Golgi, trans-Golgi network (TGN) and recycling endosomes, and in biosynthetic transport of CAV1. Promotes degradation of Nef cellular targets CD4 and MHC class I antigens by facilitating their trafficking to degradative compartments.

Phenotypes From GWAS Catalog for COPB1 Gene

Gene Ontology (GO) - Molecular Function for COPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 10199403
genes like me logo Genes that share ontologies with COPB1: view
genes like me logo Genes that share phenotypes with COPB1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COPB1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COPB1 Gene

Localization for COPB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COPB1 Gene

Cytoplasm. Golgi apparatus membrane. Peripheral membrane protein. Cytoplasmic side. Cytoplasmic vesicle, COPI-coated vesicle membrane. Peripheral membrane protein. Cytoplasmic side. Cell membrane. Endoplasmic reticulum-Golgi intermediate compartment. 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). Proteolytic cleavage by CAPN8 triggers translocation from Golgi to cytoplasm (By similarity). Found in perinuclear vesicular-tubular clusters (VTCs) and in the Golgi region where associated with vesicles, buds and rims of the Golgi stack (By similarity). Occasionally present at the trans-side of Golgi, but mainly present at the cis-Golgi side in transitional areas (TA), on so-called peripheral elements (PE) consisting of tubules and vesicles located between the cup-shaped transitional elements (TE) of the rough endoplasmic reticulum (RER) and the cis-most Golgi cisternae (By similarity). Present in cytoplasm, not associated with visible coats or membranes, with a minor fraction present on small clusters of tubules and vesicles (By similarity). Some association with high-density and low-density microsomes and mitochondria/nuclei fraction (By similarity). Very little found in plasma membrane fraction (PubMed:20362547). {ECO:0000250 UniProtKB:P23514, ECO:0000269 PubMed:20362547}.

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 COPB1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 4
endoplasmic reticulum 4
cytoskeleton 3
nucleus 2
extracellular 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Golgi apparatus (4)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COPB1 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:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
GO:0005794 Golgi apparatus IEA,IDA --
genes like me logo Genes that share ontologies with COPB1: view

Pathways & Interactions for COPB1 Gene

genes like me logo Genes that share pathways with COPB1: view

Pathways by source for COPB1 Gene

5 GeneGo (Thomson Reuters) pathways for COPB1 Gene
  • Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)
  • Delta508-CFTR traffic / ER-to-Golgi in CF
  • Normal wtCFTR traffic / ER-to-Golgi
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)

Gene Ontology (GO) - Biological Process for COPB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0006891 intra-Golgi vesicle-mediated transport IBA,ISS --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with COPB1: view

No data available for SIGNOR curated interactions for COPB1 Gene

Drugs & Compounds for COPB1 Gene

(2) Drugs for COPB1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for COPB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COPB1: view

Transcripts for COPB1 Gene

mRNA/cDNA for COPB1 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COPB1

Alternative Splicing Database (ASD) splice patterns (SP) for COPB1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^
SP1: - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - -
SP9: - - - - -
SP10: - - - - - -
SP11: - -
SP12:
SP13: - - - -
SP14: - -
SP15:

ExUns: 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b
SP1: - -
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for COPB1 Gene

GeneLoc Exon Structure for
COPB1

Expression for COPB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COPB1 Gene

Protein differential expression in normal tissues from HIPED for COPB1 Gene

This gene is overexpressed in Salivary gland (9.1) and Lymph node (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COPB1 Gene



Protein tissue co-expression partners for COPB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COPB1

SOURCE GeneReport for Unigene cluster for COPB1 Gene:

Hs.339278

Evidence on tissue expression from TISSUES for COPB1 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Lung(3.5)
  • Heart(2.9)
  • Skin(2.9)
  • Stomach(2.8)
  • Kidney(2.8)
  • Blood(2.7)
  • Pancreas(2.6)
  • Intestine(2.4)
  • Lymph node(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with COPB1: view

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 COPB1 Gene

Orthologs for COPB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COPB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COPB1 30 31
  • 99.58 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia COPB1 31
  • 98 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia COPB1 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia COPB1 30 31
  • 94.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia COPB1 30 31
  • 94.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Copb1 30 17 31
  • 91.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Copb1 30
  • 91.01 (n)
Chicken
(Gallus gallus)
Aves COPB1 30 31
  • 84.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COPB1 31
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia copb1 30
  • 76.11 (n)
Zebrafish
(Danio rerio)
Actinopterygii copb1 30 31
  • 76.37 (n)
OneToOne
-- 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10929 30
Fruit Fly
(Drosophila melanogaster)
Insecta betaCop 30 31
  • 62.06 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001399 30
  • 61.67 (n)
Worm
(Caenorhabditis elegans)
Secernentea copb-1 31
  • 60 (a)
OneToOne
Y25C1A.5 30
  • 58.32 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC26 30 31 33
  • 52.3 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15279g 30
  • 52.29 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABL112W 30
  • 51.66 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G31490 30
  • 55.23 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1287 30
Soybean
(Glycine max)
eudicotyledons Gma.2341 30
Rice
(Oryza sativa)
Liliopsida Os11g0174000 30
  • 54.1 (n)
Os.11596 30
Barley
(Hordeum vulgare)
Liliopsida Hv.2355 30
Corn
(Zea mays)
Liliopsida Zm.6949 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4883 31
  • 72 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sec26 30
  • 53.33 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04404 30
  • 52.25 (n)
Species where no ortholog for COPB1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for COPB1 Gene

ENSEMBL:
Gene Tree for COPB1 (if available)
TreeFam:
Gene Tree for COPB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COPB1: view image

Paralogs for COPB1 Gene

No data available for Paralogs for COPB1 Gene

Variants for COPB1 Gene

Additional dbSNP identifiers (rs#s) for COPB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for COPB1 Gene

Variant ID Type Subtype PubMed ID
esv32960 CNV loss 17666407
esv3370082 CNV insertion 20981092
esv3578250 CNV gain 25503493
esv3625423 CNV loss 21293372
nsv1048243 CNV gain 25217958
nsv471836 CNV novel sequence insertion 20440878
nsv951311 CNV duplication 24416366

Variation tolerance for COPB1 Gene

Residual Variation Intolerance Score: 24.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COPB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COPB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COPB1 Gene

Disorders for COPB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COPB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
parainfluenza virus type 3
  • human parainfluenza virus type 3
middle ear disease
  • middle ear anomaly
- elite association - COSMIC cancer census association via MalaCards
Search COPB1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with COPB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COPB1 Gene

Publications for COPB1 Gene

  1. HIV-1 Nef targets MHC-I and CD4 for degradation via a final common beta-COP-dependent pathway in T cells. (PMID: 18725938) Schaefer MR … Collins KL (PLoS pathogens 2008) 3 4 23
  2. Physical interaction of the HIV-1 Nef protein with beta-COP, a component of non-clathrin-coated vesicles essential for membrane traffic. (PMID: 7982906) Benichou S … Benarous R (The Journal of biological chemistry 1994) 2 3 4
  3. Stasimon/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic development. (PMID: 30352685) Van Alstyne M … Pellizzoni L (Biochemical and biophysical research communications 2018) 3 4
  4. TMEM115 is an integral membrane protein of the Golgi complex involved in retrograde transport. (PMID: 24806965) Ong YS … Hong W (Journal of cell science 2014) 3 4
  5. Scyl1, mutated in a recessive form of spinocerebellar neurodegeneration, regulates COPI-mediated retrograde traffic. (PMID: 18556652) Burman JL … McPherson PS (The Journal of biological chemistry 2008) 3 4

Products for COPB1 Gene

  • Signalway Proteins for COPB1

Sources for COPB1 Gene