POGLUT1

Protein O-Glucosyltransferase 1 is an enzyme which is encoded by the gene POGLUT1.^[5]

POGLUT1
Identifiers
Aliases	POGLUT1, C3orf9, CLP46, KDELCL1, KTELC1, MDSRP, Rumi, hCLP46, MDS010, protein O-glucosyltransferase 1, LGMD2Z, LGMDR21
External IDs	OMIM: 615618; MGI: 2444232; HomoloGene: 41353; GeneCards: POGLUT1; OMA:POGLUT1 - orthologs
EC number	2.4.2.26
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q13.33 Start 119,468,963 bp[1] End 119,494,708 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 B4 Start 38,525,137 bp[2] End 38,550,258 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in seminal vesicula stromal cell of endometrium monocyte gonad lymph node body of pancreas rectum skin of abdomen buccal mucosa cell body of uterus Top expressed in saccule otic vesicle otic placode genital tubercle ventricular zone tail of embryo interventricular septum facial motor nucleus visual cortex central gray substance of midbrain More reference expression data BioGPS n/a
Gene ontology Molecular function protein xylosyltransferase activity transferase activity glucosyltransferase activity glycosyltransferase activity UDP-glucosyltransferase activity UDP-xylosyltransferase activity Cellular component endoplasmic reticulum lumen endoplasmic reticulum Biological process protein glycosylation protein O-linked glycosylation regulation of Notch signaling pathway glycolipid metabolic process axial mesoderm development paraxial mesoderm development somitogenesis multicellular organism development gastrulation regulation of gastrulation protein O-linked glycosylation via serine muscle tissue development positive regulation of Notch signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56983 224143 Ensembl ENSG00000163389 ENSMUSG00000034064 UniProt Q8NBL1 Q8BYB9 RefSeq (mRNA) NM_152305 NM_001300827 NM_172380 RefSeq (protein) NP_689518 NP_001287756 NP_759012 Location (UCSC) Chr 3: 119.47 – 119.49 Mb Chr 16: 38.53 – 38.55 Mb PubMed search [3] [4]
Wikidata
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Gene

The POGLUT1 gene is located on the long arm (q) of chromosome 3 on position 13.33, from base pair from base pair 119,468,963 to base pair 119,494,708.^[6]

Function

This enzyme is located in the endoplasmic reticulum (ER), which has O-glucosyltransferase activity on Notch proteins.^[7]

Clinical significance

Mutations in this gene causes autosomal recessive form of Limb-Girdle muscular dystrophy and Dowling-Degos disease.^[8][9]