COPB1
Coatomer subunit beta
Also known as: COPB, COPB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P53618
- Gene
- COPB1
- Ensembl
- ENSG00000129083
- Chromosome
- 11
- Canonical length
- 953 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Golgi apparatus,Vesicles,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
953 residues, UniProt reviewed canonical sequence.
>P53618|COPB1
1 MTAAENVCYT LINVPMDSEP PSEISLKNDL EKGDVKSKTE ALKKVIIMIL NGEKLPGLLM
61 TIIRFVLPLQ DHTIKKLLLV FWEIVPKTTP DGRLLHEMIL VCDAYRKDLQ HPNEFIRGST
121 LRFLCKLKEA ELLEPLMPAI RACLEHRHSY VRRNAVLAIY TIYRNFEHLI PDAPELIHDF
181 LVNEKDASCK RNAFMMLIHA DQDRALDYLS TCIDQVQTFG DILQLVIVEL IYKVCHANPS
241 ERARFIRCIY NLLQSSSPAV KYEAAGTLVT LSSAPTAIKA AAQCYIDLII KESDNNVKLI
301 VLDRLIELKE HPAHERVLQD LVMDILRVLS TPDLEVRKKT LQLALDLVSS RNVEELVIVL
361 KKEVIKTNNV SEHEDTDKYR QLLVRTLHSC SVRFPDMAAN VIPVLMEFLS DNNEAAAADV
421 LEFVREAIQR FDNLRMLIVE KMLEVFHAIK SVKIYRGALW ILGEYCSTKE DIQSVMTEIR
481 RSLGEIPIVE SEIKKEAGEL KPEEEITVGP VQKLVTEMGT YATQSALSSS RPTKKEEDRP
541 PLRGFLLDGD FFVAASLATT LTKIALRYVA LVQEKKKQNS FVAEAMLLMA TILHLGKSSL
601 PKKPITDDDV DRISLCLKVL SECSPLMNDI FNKECRQSLS HMLSAKLEEE KLSQKKESEK
661 RNVTVQPDDP ISFMQLTAKN EMNCKEDQFQ LSLLAAMGNT QRKEAADPLA SKLNKVTQLT
721 GFSDPVYAEA YVHVNQYDIV LDVLVVNQTS DTLQNCTLEL ATLGDLKLVE KPSPLTLAPH
781 DFANIKANVK VASTENGIIF GNIVYDVSGA ASDRNCVVLS DIHIDIMDYI QPATCTDAEF
841 RQMWAEFEWE NKVTVNTNMV DLNDYLQHIL KSTNMKCLTP EKALSGYCGF MAANLYARSI
901 FGEDALANVS IEKPIHQGPD AAVTGHIRIR AKSQGMALSL GDKINLSQKK TSILocalizationUniProt · AlphaFold · HPA
Whether an antibody against COPB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 76 nTPM
Expression across tissuesHPA
Tissue
- thyroid gland: 76 nTPM
- bone marrow: 75 nTPM
- liver: 69 nTPM
- epididymis: 65 nTPM
- placenta: 65 nTPM
- parathyroid gland: 64 nTPM
Single-cell type
- syncytiotrophoblasts: 169 nCPM
- prostatic glandular cells: 160 nCPM
- neutrophils: 151 nCPM
- thymocytes: 147 nCPM
- pancreatic acinar cells: 140 nCPM
- salivary acinar cells: 135 nCPM
Immune cell
- MAIT T-cell: 56 nTPM
- basophil: 53 nTPM
- myeloid DC: 52 nTPM
- non-classical monocyte: 50 nTPM
- intermediate monocyte: 48 nTPM
- memory CD8 T-cell: 48 nTPM
Brain region
- choroid plexus: 82 nTPM
- white matter: 44 nTPM
- cerebellum: 42 nTPM
- medulla oblongata: 39 nTPM
- hypothalamus: 37 nTPM
- thalamus: 37 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about COPB1.
Disease | AllUniProt
Conditions COPB1 is implicated in, by any mechanism.
- Baralle-Macken syndrome (BARMACS) MIM:619255
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 133 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Severe intellectual disability
- Cataract
- Microcephaly
- Baralle-Macken syndrome
- Immunodeficiency
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.21
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.38
- DepMap mean gene effect
- -2.2
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endoplasmic reticulum to Golgi vesicle-mediated transport
- intra-Golgi vesicle-mediated transport
- intracellular protein transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Clathrin/coatomer adaptor, adaptin-like, N-terminal
- Armadillo-like helical
- Armadillo-type fold
- Adaptin N terminal region
- Coatomer beta subunit, C-terminal
- Coatomer beta subunit (COPB1)
- Coatomer beta subunit, appendage platform domain
- Coatomer beta C-terminal region
- Coatomer beta subunit appendage platform
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of COPB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads COPB1 as an antibody target. Whether an autoantibody or antibody against COPB1 could matter depends on whether native COPB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
COPB1 is annotated at the cell surface, where native COPB1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label COPB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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