POGLUT1
entrez
56983
canonical
uniprot
Q8NBL1
canonical
ensembl
ENSG00000163389
resolver
ensp
ENSP00000295588
resolver
enst
ENST00000295588
resolver
genesymbol
POGLUT1
resolver
genesymbol_syn
C3orf9
resolver
genesymbol_syn
CLP46
resolver
genesymbol_syn
KTELC1
resolver
genesymbol_syn
MDSRP
resolver
hgnc
HGNC:22954
resolver
uniprot
B2RD13
resolver
uniprot
B4DJ97
resolver
uniprot
Q53GJ4
resolver
uniprot
Q8N2T1
resolver
uniprot_entry
B4DJ97_HUMAN
resolver
uniprot_entry
PGLT1_HUMAN
resolver
uniprot_sec
B2RD13
resolver
uniprot_sec
Q53GJ4
resolver
uniprot_sec
Q8N2T1
resolver
amino_acid_sequence
MEWWASSPLRLWLLLFLLPSAQGRQKESGSKWKVFIDQINRSLENYEPCSSQNCSCYHGVIEEDLTPFRGGISRKMMAEVVRRKLGTHYQITKNRLYRENDCMFPSRCSGVEHFILEVIGRLPDMEMVINVRDYPQVPKWMEPAIPVFSFSKTSEYHDIMYPAWTFWEGGPAVWPIYPTGLGRWDLFREDLVRSAAQWPWKKKNSTAYFRGSRTSPERDPLILLSRKNPKLVDAEYTKNQAWKSMKDTLGKPAAKDVHLVDHCKYKYLFNFRGVAASFRFKHLFLCGSLVFHVGDEWLEFFYPQLKPWVHYIPVKTDLSNVQELLQFVKANDDVAQEIAERGSQFIRNHLQMDDITCYWENLLSEYSKFLSYNVTRRKGYDQIIPKMLKTEL
uniprot
proteins
disease_involvement
DISEASE: Dowling-Degos disease 4 (DDD4) [MIM:615696]: A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas. {ECO:0000269|PubMed:24387993, ECO:0000269|PubMed:27479915, ECO:0000269|PubMed:29878302}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 21 (LGMDR21) [MIM:617232]: A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDR21 is characterized by young-adult onset. {ECO:0000269|PubMed:27807076}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.376
uniprot
proteins
ec_number
2.4.2.63
uniprot
proteins
function
FUNCTION: Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076, PubMed:28775322). Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development (PubMed:27807076). Notch glucosylation does not affect Notch ligand binding (PubMed:21490058). Required during early development to promote gastrulation: acts by mediating O-glucosylation of CRB2, which is required for CRB2 localization to the cell membrane (By similarity). {ECO:0000250|UniProtKB:Q8BYB9, ECO:0000269|PubMed:21081508, ECO:0000269|PubMed:21490058, ECO:0000269|PubMed:21949356, ECO:0000269|PubMed:27807076, ECO:0000269|PubMed:28775322}.
uniprot
proteins
mass_dalton
46189
uniprot
proteins
mutagenesis
MUTAGEN 169; /note="G->E: Loss of O-glucosyltransferase activity."; /evidence="ECO:0000269|PubMed:21490058
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:21081508, ECO:0000269|PubMed:21490058, ECO:0000269|PubMed:21949356, ECO:0000269|PubMed:28775322}.
uniprot
proteins
protein_family
Glycosyltransferase 90 family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16524674
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
21081508
uniprot
proteins
pubmed
21490058
uniprot
proteins
pubmed
21949356
uniprot
proteins
pubmed
24387993
uniprot
proteins
pubmed
27479915
uniprot
proteins
pubmed
27807076
uniprot
proteins
pubmed
28775322
uniprot
proteins
pubmed
29878302
uniprot
proteins
sequence_length
392
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:16524674, ECO:0000269|PubMed:24387993, ECO:0000269|PubMed:27807076}.
uniprot
proteins