POGLUT1

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
Enzyme activity
Gene location (Human)
Chr.	Chromosome 3 (human)
End	119,494,708 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	38,550,258 bp
RNA expression pattern
	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
	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
	56983
	224143
	ENSG00000163389
	ENSMUSG00000034064
	Q8NBL1
	Q8BYB9
	NM_152305
	NM_001300827; NM_172380
	NP_689518
	NP_001287756; NP_759012
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000163389 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034064 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entry - *615618 - PROTEIN O-GLUCOSYLTRANSFERASE 1; POGLUT1-OMIM- (OMIM.ORG)". www.omim.org. Retrieved 2025-11-04.
↑ "Gene: POGLUT1 (ENSG00000163389) - Summary - Homo_sapiens - Ensembl genome browser 115". asia.ensembl.org. Retrieved 2025-11-04.
↑ Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, et al. (November 2016). "A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss". EMBO Molecular Medicine. 8 (11): 1289–1309. doi:10.15252/emmm.201505815. PMC 5090660. PMID 27807076.
↑ Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, et al. (January 2014). "Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease". American Journal of Human Genetics. 94 (1): 135–143. doi:10.1016/j.ajhg.2013.12.003. PMC 3882728. PMID 24387993.
↑ Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, et al. (March 2020). "POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern". Acta Neuropathologica. 139 (3): 565–582. doi:10.1007/s00401-019-02117-6. PMC 7196238. PMID 31897643.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000163389 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034064 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] "Entry - *615618 - PROTEIN O-GLUCOSYLTRANSFERASE 1; POGLUT1-OMIM- (OMIM.ORG)". www.omim.org. Retrieved 2025-11-04.

[6] "Gene: POGLUT1 (ENSG00000163389) - Summary - Homo_sapiens - Ensembl genome browser 115". asia.ensembl.org. Retrieved 2025-11-04.

[7] Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, et al. (November 2016). "A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss". EMBO Molecular Medicine. 8 (11): 1289–1309. doi:10.15252/emmm.201505815. PMC 5090660. PMID 27807076.

[8] Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, et al. (January 2014). "Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease". American Journal of Human Genetics. 94 (1): 135–143. doi:10.1016/j.ajhg.2013.12.003. PMC 3882728. PMID 24387993.

[9] Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, et al. (March 2020). "POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern". Acta Neuropathologica. 139 (3): 565–582. doi:10.1007/s00401-019-02117-6. PMC 7196238. PMID 31897643.

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Gene

Function

Clinical significance

References