EOGT
entrez
285203
canonical
uniprot
Q5NDL2
canonical
ensembl
ENSG00000163378
resolver
ensp
ENSP00000295571
resolver
ensp
ENSP00000373206
resolver
ensp
ENSP00000564481
resolver
ensp
ENSP00000616430
resolver
ensp
ENSP00000784431
resolver
genesymbol
EOGT
resolver
genesymbol_syn
AER61
resolver
genesymbol_syn
C3orf64
resolver
genesymbol_syn
EOGT1
resolver
hgnc
HGNC:28526
resolver
uniprot
A8K2U1
resolver
uniprot
B3KR71
resolver
uniprot
B4DFH5
resolver
uniprot
L7X1M5
resolver
uniprot
Q6MZY0
resolver
uniprot
Q6P985
resolver
uniprot
Q6ZTV0
resolver
uniprot_entry
B3KR71_HUMAN
resolver
uniprot_entry
EOGT_HUMAN
resolver
uniprot_sec
A8K2U1
resolver
uniprot_sec
B4DFH5
resolver
uniprot_sec
L7X1M5
resolver
uniprot_sec
Q6MZY0
resolver
uniprot_sec
Q6P985
resolver
uniprot_sec
Q6ZTV0
resolver
amino_acid_sequence
MLMLFVFGVLLHEVSLSGQNEAPPNTHSIPGEPLYNYASIRLPEEHIPFFLHNNRHIATVCRKDSLCPYKKHLEKLKYCWGYEKSCKPEFRFGYPVCSYVDMGWTDTLESAEDIFWKQADFGYARERLEEMHVLCQPKETSDSSLVCSRYLQYCRATNLYLDLRNIKRNHDRFKEDFFQSGEIGGHCKLDIRTLTSEGQRKSPLQSWFAELQSYTQLNFRPIEDAKCDIVIEKPTYFMKLDAGVNMYHHFCDFINLYITQHVNNSFSTDVYIVMWDTSSYGYGDLFSDTWNAFTDYDVIHLKTYDSKRVCFKEAVFSLLPRMRYGLFYNTPLISGCQNTGLFRAFAQHVLHRLNITQEGPKDGKIRVTILARSTEYRKILNQNELVNALKTVSTFEVQIVDYKYRELGFLDQLRITHNTDIFIGMHGAGLTHLLFLPDWAAVFELYNCEDERCYLDLARLRGVHYITWRRQNKVFPQDKGHHPTLGEHPKFTNYSFDVEEFMYLVLQAADHVLQHPKWPFKKKHDEL
uniprot
proteins
disease_involvement
DISEASE: Adams-Oliver syndrome 4 (AOS4) [MIM:615297]: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. {ECO:0000269|PubMed:23522784}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.255
uniprot
proteins
function
FUNCTION: Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains. {ECO:0000269|PubMed:23671640}.
uniprot
proteins
mass_dalton
62011
uniprot
proteins
mutagenesis
MUTAGEN 295..297; /note="DYD->AYA: Partial loss of activity."; /evidence="ECO:0000269|PubMed:23671640
uniprot
proteins
protein_family
Glycosyltransferase 61 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23522784
uniprot
proteins
pubmed
23671640
uniprot
proteins
sequence_length
527
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
uniprot
proteins