COPB1
entrez
1315
canonical
uniprot
P53618
canonical
ensembl
ENSG00000129083
resolver
ensp
ENSP00000249923
resolver
ensp
ENSP00000397873
resolver
ensp
ENSP00000560337
resolver
ensp
ENSP00000560340
resolver
ensp
ENSP00000560342
resolver
ensp
ENSP00000560348
resolver
ensp
ENSP00000582917
resolver
ensp
ENSP00000582918
resolver
ensp
ENSP00000637518
resolver
enst
ENST00000249923
resolver
enst
ENST00000439561
resolver
enst
ENST00000890278
resolver
enst
ENST00000890281
resolver
enst
ENST00000890283
resolver
enst
ENST00000890289
resolver
enst
ENST00000912858
resolver
enst
ENST00000912859
resolver
enst
ENST00000967459
resolver
genesymbol
COPB1
resolver
genesymbol_syn
COPB
resolver
hgnc
HGNC:2231
resolver
uniprot
D3DQX0
resolver
uniprot
Q6GTT7
resolver
uniprot
Q9NTK2
resolver
uniprot
Q9UNW7
resolver
uniprot_entry
COPB_HUMAN
resolver
uniprot_sec
D3DQX0
resolver
uniprot_sec
Q6GTT7
resolver
uniprot_sec
Q9NTK2
resolver
uniprot_sec
Q9UNW7
resolver
amino_acid_sequence
MTAAENVCYTLINVPMDSEPPSEISLKNDLEKGDVKSKTEALKKVIIMILNGEKLPGLLMTIIRFVLPLQDHTIKKLLLVFWEIVPKTTPDGRLLHEMILVCDAYRKDLQHPNEFIRGSTLRFLCKLKEAELLEPLMPAIRACLEHRHSYVRRNAVLAIYTIYRNFEHLIPDAPELIHDFLVNEKDASCKRNAFMMLIHADQDRALDYLSTCIDQVQTFGDILQLVIVELIYKVCHANPSERARFIRCIYNLLQSSSPAVKYEAAGTLVTLSSAPTAIKAAAQCYIDLIIKESDNNVKLIVLDRLIELKEHPAHERVLQDLVMDILRVLSTPDLEVRKKTLQLALDLVSSRNVEELVIVLKKEVIKTNNVSEHEDTDKYRQLLVRTLHSCSVRFPDMAANVIPVLMEFLSDNNEAAAADVLEFVREAIQRFDNLRMLIVEKMLEVFHAIKSVKIYRGALWILGEYCSTKEDIQSVMTEIRRSLGEIPIVESEIKKEAGELKPEEEITVGPVQKLVTEMGTYATQSALSSSRPTKKEEDRPPLRGFLLDGDFFVAASLATTLTKIALRYVALVQEKKKQNSFVAEAMLLMATILHLGKSSLPKKPITDDDVDRISLCLKVLSECSPLMNDIFNKECRQSLSHMLSAKLEEEKLSQKKESEKRNVTVQPDDPISFMQLTAKNEMNCKEDQFQLSLLAAMGNTQRKEAADPLASKLNKVTQLTGFSDPVYAEAYVHVNQYDIVLDVLVVNQTSDTLQNCTLELATLGDLKLVEKPSPLTLAPHDFANIKANVKVASTENGIIFGNIVYDVSGAASDRNCVVLSDIHIDIMDYIQPATCTDAEFRQMWAEFEWENKVTVNTNMVDLNDYLQHILKSTNMKCLTPEKALSGYCGFMAANLYARSIFGEDALANVSIEKPIHQGPDAAVTGHIRIRAKSQGMALSLGDKINLSQKKTSI
uniprot
proteins
disease_involvement
DISEASE: Baralle-Macken syndrome (BARMACS) [MIM:619255]: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and difficulty walking or inability to walk. Affected individuals have early-onset cataracts. Additional variable features are microcephaly, facial dysmorphism, metabolic abnormalities, spasticity, and lymphopenia. {ECO:0000269|PubMed:33632302}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000250, ECO:0000269|PubMed:18385291, ECO:0000269|PubMed:18725938, ECO:0000269|PubMed:19364919, ECO:0000269|PubMed:20056612}.
uniprot
proteins
mass_dalton
107142
uniprot
proteins
post_translational_modification
PTM: Proteolytically cleaved between Ser-528 and Ser-529 by CAPN8. {ECO:0000250}.
uniprot
proteins
pubmed
11056392
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11520457
uniprot
proteins
pubmed
12582157
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17451557
uniprot
proteins
pubmed
18356299
uniprot
proteins
pubmed
18385291
uniprot
proteins
pubmed
18556652
uniprot
proteins
pubmed
18725938
uniprot
proteins
pubmed
19364919
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20056612
uniprot
proteins
pubmed
20362547
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24806965
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30352685
uniprot
proteins
pubmed
33632302
uniprot
proteins
pubmed
7573041
uniprot
proteins
pubmed
7982906
uniprot
proteins
sequence_length
953
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus membrane {ECO:0000269|PubMed:11056392, ECO:0000269|PubMed:17451557, ECO:0000269|PubMed:7573041}; Peripheral membrane protein {ECO:0000269|PubMed:17451557, ECO:0000269|PubMed:18385291, ECO:0000269|PubMed:20056612}; Cytoplasmic side {ECO:0000305}. Cytoplasmic vesicle, COPI-coated vesicle membrane; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:20362547}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000250|UniProtKB:Q9JIF7}. 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}.
uniprot
proteins