COG6
entrez
57511
canonical
uniprot
Q9Y2V7
canonical
ensembl
ENSG00000133103
resolver
ensp
ENSP00000397441
resolver
ensp
ENSP00000403733
resolver
ensp
ENSP00000536344
resolver
genesymbol
COG6
resolver
genesymbol_syn
KIAA1134
resolver
hgnc
HGNC:18621
resolver
uniprot
A0A140VJG7
resolver
uniprot
Q5T0U1
resolver
uniprot
Q6AI19
resolver
uniprot
Q86V49
resolver
uniprot
Q9ULT5
resolver
uniprot_entry
A0A140VJG7_HUMAN
resolver
uniprot_entry
COG6_HUMAN
resolver
uniprot_sec
Q5T0U1
resolver
uniprot_sec
Q6AI19
resolver
uniprot_sec
Q86V49
resolver
uniprot_sec
Q9ULT5
resolver
amino_acid_sequence
MAEGSGEVVAVSATGAANGLNNGAGGTSATTCNPLSRKLHKILETRLDNDKEMLEALKALSTFFVENSLRTRRNLRGDIERKSLAINEEFVSIFKEVKEELESISEDVQAMSNCCQDMTSRLQAAKEQTQDLIVKTTKLQSESQKLEIRAQVADAFLSKFQLTSDEMSLLRGTREGPITEDFFKALGRVKQIHNDVKVLLRTNQQTAGLEIMEQMALLQETAYERLYRWAQSECRTLTQESCDVSPVLTQAMEALQDRPVLYKYTLDEFGTARRSTVVRGFIDALTRGGPGGTPRPIEMHSHDPLRYVGDMLAWLHQATASEKEHLEALLKHVTTQGVEENIQEVVGHITEGVCRPLKVRIEQVIVAEPGAVLLYKISNLLKFYHHTISGIVGNSATALLTTIEEMHLLSKKIFFNSLSLHASKLMDKVELPPPDLGPSSALNQTLMLLREVLASHDSSVVPLDARQADFVQVLSCVLDPLLQMCTVSASNLGTADMATFMVNSLYMMKTTLALFEFTDRRLEMLQFQIEAHLDTLINEQASYVLTRVGLSYIYNTVQQHKPEQGSLANMPNLDSVTLKAAMVQFDRYLSAPDNLLIPQLNFLLSATVKEQIVKQSTELVCRAYGEVYAAVMNPINEYKDPENILHRSPQQVQTLLS
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2L (CDG2L) [MIM:614576]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy. {ECO:0000269|PubMed:20605848}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Shaheen syndrome (SHNS) [MIM:615328]: An autosomal recessive syndrome characterized by severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly. {ECO:0000269|PubMed:23606727}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for normal Golgi function. {ECO:0000250}.
uniprot
proteins
mass_dalton
73279
uniprot
proteins
protein_family
COG6 family
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
11980916
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20605848
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23606727
uniprot
proteins
sequence_length
657
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
uniprot
proteins