COG4
entrez
25839
canonical
uniprot
Q9H9E3
canonical
ensembl
ENSG00000103051
resolver
ensp
ENSP00000315775
resolver
ensp
ENSP00000377236
resolver
ensp
ENSP00000501405
resolver
enst
ENST00000323786
resolver
enst
ENST00000393612
resolver
enst
ENST00000674443
resolver
genesymbol
COG4
resolver
hgnc
HGNC:18620
resolver
uniprot
A0A0A0MS45
resolver
uniprot
A0A6I8PIQ6
resolver
uniprot
B4DMN8
resolver
uniprot
C9JS23
resolver
uniprot
J3KNI1
resolver
uniprot
Q8N8L9
resolver
uniprot
Q96D40
resolver
uniprot
Q9BRF0
resolver
uniprot
Q9BVZ2
resolver
uniprot
Q9H5Y4
resolver
uniprot
Q9Y3W3
resolver
uniprot_entry
A0A0A0MS45_HUMAN
resolver
uniprot_entry
A0A6I8PIQ6_HUMAN
resolver
uniprot_entry
COG4_HUMAN
resolver
uniprot_entry
J3KNI1_HUMAN
resolver
uniprot_entry
Q8N8L9_HUMAN
resolver
uniprot_sec
B4DMN8
resolver
uniprot_sec
C9JS23
resolver
uniprot_sec
Q96D40
resolver
uniprot_sec
Q9BRF0
resolver
uniprot_sec
Q9BVZ2
resolver
uniprot_sec
Q9H5Y4
resolver
uniprot_sec
Q9Y3W3
resolver
amino_acid_sequence
MADLDSPPKLSGVQQPSEGVGGGRCSEISAELIRSLTELQELEAVYERLCGEEKVVERELDALLEQQNTIESKMVTLHRMGPNLQLIEGDAKQLAGMITFTCNLAENVSSKVRQLDLAKNRLYQAIQRADDILDLKFCMDGVQTALRSEDYEQAAAHTHRYLCLDKSVIELSRQGKEGSMIDANLKLLQEAEQRLKAIVAEKFAIATKEGDLPQVERFFKIFPLLGLHEEGLRKFSEYLCKQVASKAEENLLMVLGTDMSDRRAAVIFADTLTLLFEGIARIVETHQPIVETYYGPGRLYTLIKYLQVECDRQVEKVVDKFIKQRDYHQQFRHVQNNLMRNSTTEKIEPRELDPILTEVTLMNARSELYLRFLKKRISSDFEVGDSMASEEVKQEHQKCLDKLLNNCLLSCTMQELIGLYVTMEEYFMRETVNKAVALDTYEKGQLTSSMVDDVFYIVKKCIGRALSSSSIDCLCAMINLATTELESDFRDVLCNKLRMGFPATTFQDIQRGVTSAVNIMHSSLQQGKFDTKGIESTDEAKMSFLVTLNNVEVCSENISTLKKTLESDCTKLFSQGIGGEQAQAKFDSCLSDLAAVSNKFRDLLQEGLTELNSTAIKPQVQPWINSFFSVSHNIEEEEFNDYEANDPWVQQFILNLEQQMAEFKASLSPVIYDSLTGLMTSLVAVELEKVVLKSTFNRLGGLQFDKELRSLIAYLTTVTTWTIRDKFARLSQMATILNLERVTEILDYWGPNSGPLTWRLTPAEVRQVLALRIDFRSEDIKRLRL
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2J (CDG2J) [MIM:613489]: 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. {ECO:0000269|PubMed:19494034, ECO:0000269|PubMed:19651599}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Saul-Wilson syndrome (SWILS) [MIM:618150]: A rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers. Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while the hands and feet exhibit short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals. {ECO:0000269|PubMed:30290151}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for normal Golgi function (PubMed:19536132, PubMed:30290151). Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1 (PubMed:19536132). {ECO:0000269|PubMed:19536132, ECO:0000269|PubMed:30290151}.
uniprot
proteins
mass_dalton
89083
uniprot
proteins
mutagenesis
MUTAGEN 729; /note="R->A: Severe defects in glycosylation."; /evidence="ECO:0000269|PubMed:19651599"; MUTAGEN 764; /note="E->A: Severe defects in glycosylation."; /evidence="ECO:0000269|PubMed:19651599
uniprot
proteins
protein_family
COG4 family
uniprot
proteins
pubmed
11703943
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19494034
uniprot
proteins
pubmed
19536132
uniprot
proteins
pubmed
19651599
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
30290151
uniprot
proteins
sequence_length
785
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:30290151}. Golgi apparatus membrane {ECO:0000305|PubMed:11703943}; Peripheral membrane protein {ECO:0000305|PubMed:11703943}; Cytoplasmic side {ECO:0000305|PubMed:11703943}. Note=Mosty cytosolic, with about 5% membrane-bound. {ECO:0000269|PubMed:30290151}.
uniprot
proteins