COPZ1
entrez
22818
canonical
uniprot
P61923
canonical
ensembl
ENSG00000111481
resolver
ensp
ENSP00000262061
resolver
ensp
ENSP00000410620
resolver
ensp
ENSP00000448444
resolver
ensp
ENSP00000449270
resolver
genesymbol
COPZ1
resolver
genesymbol_syn
COPZ
resolver
hgnc
HGNC:2243
resolver
uniprot
B4DDX8
resolver
uniprot
B4DHZ0
resolver
uniprot
F8VS17
resolver
uniprot
F8VWL5
resolver
uniprot
Q549N6
resolver
uniprot
Q9Y3C3
resolver
uniprot_entry
COPZ1_HUMAN
resolver
uniprot_sec
B4DDX8
resolver
uniprot_sec
B4DHZ0
resolver
uniprot_sec
F8VS17
resolver
uniprot_sec
F8VWL5
resolver
uniprot_sec
Q549N6
resolver
uniprot_sec
Q9Y3C3
resolver
amino_acid_sequence
MEALILEPSLYTVKAILILDNDGDRLFAKYYDDTYPSVKEQKAFEKNIFNKTHRTDSEIALLEGLTVVYKSSIDLYFYVIGSSYENELMLMAVLNCLFDSLSQMLRKNVEKRALLENMEGLFLAVDEIVDGGVILESDPQQVVHRVALRGEDVPLTEQTVSQVLQSAKEQIKWSLLR
uniprot
proteins
disease_involvement
DISEASE: Neutropenia, severe congenital, 12, autosomal recessive (SCN12) [MIM:621439]: A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe microbial infections. SCN12 is characterized by the onset of recurrent severe infections in the first month of life. These may be bacterial, viral, or fungal, and can affect various organ systems. Some patients may have additional clinical features, including impaired intellectual development, skeletal anomalies, and cytopenias affecting other hematopoietic lineages. {ECO:0000269|PubMed:39642330}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the coatomer complex, involved in retrograde Golgi-to-ER transport (PubMed:39642330). 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 (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 (By similarity). {ECO:0000250|UniProtKB:P53600, ECO:0000269|PubMed:39642330}.
uniprot
proteins
mass_dalton
20198
uniprot
proteins
mutagenesis
MUTAGEN 58..59; /note="EI->KA: Reduced interaction with gamma subunit."; /evidence="ECO:0000269|PubMed:19167404"; MUTAGEN 87..88; /note="EL->KA: Reduced interaction with gamma subunit."; /evidence="ECO:0000269|PubMed:19167404
uniprot
proteins
protein_family
Adaptor complexes small subunit family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11056392
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
19167404
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
39642330
uniprot
proteins
sequence_length
177
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. 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}.
uniprot
proteins