COG5
entrez
10466
canonical
uniprot
Q9UP83
canonical
ensembl
ENSG00000164597
resolver
ensp
ENSP00000297135
resolver
ensp
ENSP00000334703
resolver
ensp
ENSP00000377228
resolver
enst
ENST00000347053
resolver
enst
ENST00000393603
resolver
genesymbol
COG5
resolver
genesymbol_syn
GOLTC1
resolver
genesymbol_syn
GTC90
resolver
hgnc
HGNC:14857
resolver
uniprot
A0AAA9X096
resolver
uniprot
A0AAA9X2X8
resolver
uniprot
A4D0R6
resolver
uniprot
A4D0R7
resolver
uniprot
O14555
resolver
uniprot
O95008
resolver
uniprot
Q6NUL5
resolver
uniprot_entry
A0AAA9X096_HUMAN
resolver
uniprot_entry
A0AAA9X2X8_HUMAN
resolver
uniprot_entry
COG5_HUMAN
resolver
uniprot_sec
A4D0R6
resolver
uniprot_sec
A4D0R7
resolver
uniprot_sec
O14555
resolver
uniprot_sec
O95008
resolver
uniprot_sec
Q6NUL5
resolver
amino_acid_sequence
MGWVGGRRRDSASPPGRSRSAADDINPAPANMEGGGGSVAVAGLGARGSGAAAATVRELLQDGCYSDFLNEDFDVKTYTSQSIHQAVIAEQLAKLAQGISQLDRELHLQVVARHEDLLAQATGIESLEGVLQMMQTRIGALQGAVDRIKAKIVEPYNKIVARTAQLARLQVACDLLRRIIRILNLSKRLQGQLQGGSREITKAAQSLNELDYLSQGIDLSGIEVIENDLLFIARARLEVENQAKRLLEQGLETQNPTQVGTALQVFYNLGTLKDTITSVVDGYCATLEENINSALDIKVLTQPSQSAVRGGPGRSTMPTPGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRDPVSHICFIEEIVKDGQPEIFYTFWNSVTQALSSQFHMATNSSMFLKQAFEGEYPKLLRLYNDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDYDPEKALKDSLQPYEAAYLSKSLSRLFDPINLVFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSKNVAKTIQLYSVKSEQLLSTQGDASQVIGPLTEGQRRNVAVVNSLYKLHQSVTKVVSSQSSFPLAAEQTIISALKAIHALMENAVQPLLTSVGDAIEAIIITMHQEDFSGSLSSSGKPDVPCSLYMKELQGFIARVMSDYFKHFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCRRVSDLGKSYRMLRSFRPLLFQASEHVASSPALGDVIPFSIIIQFLFTRAPAELKSPFQRAEWSHTRFSQWLDDHPSEKDRLLLIRGALEAYVQSVRSREGKEFAPVYPIMVQLLQKAMSALQ
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2I (CDG2I) [MIM:613612]: 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. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments. {ECO:0000269|PubMed:19690088}. 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|UniProtKB:Q9VJD3}.
uniprot
proteins
mass_dalton
94901
uniprot
proteins
protein_family
COG5 family
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690088
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
9792665
uniprot
proteins
sequence_length
860
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:9792665}. Golgi apparatus membrane {ECO:0000269|PubMed:9792665}; Peripheral membrane protein {ECO:0000269|PubMed:9792665}.
uniprot
proteins