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
EC number	2.4.2.26
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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163389 – Ensembl, May 2017
^ ^a ^b ^c 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, Emilia; Takeuchi, Hideyuki; Lee, Tom V; Clarimon, Jordi; Mavillard, Fabiola; Area‐Gómez, Estela; Rivas, Eloy; Nieto‐González, Jose L; Rivero, Maria C; Cabrera‐Serrano, Macarena; Gómez‐Sánchez, Leonardo; Martínez‐López, Jose A; Estrada, Beatriz; Márquez, Celedonio; Morgado, Yolanda (2016-10-16). "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. ISSN 1757-4676. PMC 5090660. PMID 27807076.
^ Basmanav, F. Buket; Oprisoreanu, Ana-Maria; Pasternack, Sandra M.; Thiele, Holger; Fritz, Günter; Wenzel, Jörg; Größer, Leopold; Wehner, Maria; Wolf, Sabrina; Fagerberg, Christina; Bygum, Anette; Altmüller, Janine; Rütten, Arno; Parmentier, Laurent; El-Shabrawi-Caelen, Laila (2014-01-02). "Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease". The American Journal of Human Genetics. 94 (1): 135–143. doi:10.1016/j.ajhg.2013.12.003. ISSN 0002-9297. PMID 24387993.
^ Servián-Morilla, E.; Cabrera-Serrano, M.; Johnson, K.; Pandey, A.; Ito, A.; Rivas, E.; Chamova, T.; Muelas, N.; Mongini, T.; Nafissi, S.; Claeys, K. G.; Grewal, R. P.; Takeuchi, M.; Hao, H.; Bönnemann, C. (2020-03-01). "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. ISSN 1432-0533. PMC 7196238. PMID 31897643.

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

[refGRCm38Ensembl-2] 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, Emilia; Takeuchi, Hideyuki; Lee, Tom V; Clarimon, Jordi; Mavillard, Fabiola; Area‐Gómez, Estela; Rivas, Eloy; Nieto‐González, Jose L; Rivero, Maria C; Cabrera‐Serrano, Macarena; Gómez‐Sánchez, Leonardo; Martínez‐López, Jose A; Estrada, Beatriz; Márquez, Celedonio; Morgado, Yolanda (2016-10-16). "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. ISSN 1757-4676. PMC 5090660. PMID 27807076.

[8] Basmanav, F. Buket; Oprisoreanu, Ana-Maria; Pasternack, Sandra M.; Thiele, Holger; Fritz, Günter; Wenzel, Jörg; Größer, Leopold; Wehner, Maria; Wolf, Sabrina; Fagerberg, Christina; Bygum, Anette; Altmüller, Janine; Rütten, Arno; Parmentier, Laurent; El-Shabrawi-Caelen, Laila (2014-01-02). "Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease". The American Journal of Human Genetics. 94 (1): 135–143. doi:10.1016/j.ajhg.2013.12.003. ISSN 0002-9297. PMID 24387993.

[9] Servián-Morilla, E.; Cabrera-Serrano, M.; Johnson, K.; Pandey, A.; Ito, A.; Rivas, E.; Chamova, T.; Muelas, N.; Mongini, T.; Nafissi, S.; Claeys, K. G.; Grewal, R. P.; Takeuchi, M.; Hao, H.; Bönnemann, C. (2020-03-01). "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. ISSN 1432-0533. PMC 7196238. PMID 31897643.

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