ARCN1
entrez
372
canonical
uniprot
P48444
canonical
ensembl
ENSG00000095139
resolver
ensp
ENSP00000264028
resolver
ensp
ENSP00000352385
resolver
ensp
ENSP00000376599
resolver
ensp
ENSP00000605139
resolver
ensp
ENSP00000605140
resolver
ensp
ENSP00000797192
resolver
genesymbol
ARCN1
resolver
genesymbol_syn
COPD
resolver
hgnc
HGNC:649
resolver
uniprot
B0YIW5
resolver
uniprot
B4E1X2
resolver
uniprot
E9PEU4
resolver
uniprot
Q52M80
resolver
uniprot_entry
B0YIW5_HUMAN
resolver
uniprot_entry
COPD_HUMAN
resolver
uniprot_sec
B4E1X2
resolver
uniprot_sec
E9PEU4
resolver
uniprot_sec
Q52M80
resolver
amino_acid_sequence
MVLLAAAVCTKAGKAIVSRQFVEMTRTRIEGLLAAFPKLMNTGKQHTFVETESVRYVYQPMEKLYMVLITTKNSNILEDLETLRLFSRVIPEYCRALEENEISEHCFDLIFAFDEIVALGYRENVNLAQIRTFTEMDSHEEKVFRAVRETQEREAKAEMRRKAKELQQARRDAERQGKKAPGFGGFGSSAVSGGSTAAMITETIIETDKPKVAPAPARPSGPSKALKLGAKGKEVDNFVDKLKSEGETIMSSSMGKRTSEATKMHAPPINMESVHMKIEEKITLTCGRDGGLQNMELHGMIMLRISDDKYGRIRLHVENEDKKGVQLQTHPNVDKKLFTAESLIGLKNPEKSFPVNSDVGVLKWRLQTTEESFIPLTINCWPSESGNGCDVNIEYELQEDNLELNDVVITIPLPSGVGAPVIGEIDGEYRHDSRRNTLEWCLPVIDAKNKSGSLEFSIAGQPNDFFPVQVSFVSKKNYCNIQVTKVTQVDGNSPVRFSTETTFLVDKYEIL
uniprot
proteins
disease_involvement
DISEASE: Short stature-micrognathia syndrome (SSMG) [MIM:617164]: An autosomal dominant disorder characterized by facial dysmorphism, severe micrognathia, microcephaly, rhizomelic short stature, and mild developmental delay. {ECO:0000269|PubMed:27476655}. Note=The disease is caused by variants affecting the gene represented in this entry. the skeletal phenotype, that characterizes this disorder, may be due to defective type I collagen transport and reduction of collagen secretion. {ECO:0000269|PubMed:27476655}.
uniprot
proteins
function
FUNCTION: Component of the coatomer, 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. The 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). {ECO:0000250}.
uniprot
proteins
mass_dalton
57210
uniprot
proteins
protein_family
Adaptor complexes medium subunit family
uniprot
proteins
protein_family
Delta-COP subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27476655
uniprot
proteins
pubmed
7782067
uniprot
proteins
sequence_length
511
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