Phosphoglucomutase 3

PGM3
Identifiers
Aliases	PGM3, AGM1, IMD23, PAGM, PGM 3, Phosphoglucomutase 3
External IDs	OMIM: 172100; MGI: 97566; HomoloGene: 9205; GeneCards: PGM3; OMA:PGM3 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	83,193,936 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	86,453,895 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; islet of Langerhans; ; stromal cell of endometrium; ; anterior pituitary; ; Achilles tendon; ; cartilage tissue; ; gonad; ; left ovary; ; sperm; ; minor salivary glands;
	Top expressed in
	epithelium of small intestine; ; seminal vesicula; ; umbilical cord; ; yolk sac; ; otolith organ; ; utricle; ; islet of Langerhans; ; proximal tubule; ; hand; ; Paneth cell;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	intramolecular transferase activity, phosphotransferases; phosphoglucomutase activity; isomerase activity; magnesium ion binding; metal ion binding; phosphoacetylglucosamine mutase activity;
Cellular component	cytosol; cellular component;
Biological process	UDP-N-acetylglucosamine biosynthetic process; protein O-linked glycosylation; glucosamine metabolic process; protein N-linked glycosylation; glucose 1-phosphate metabolic process; organic substance metabolic process; spermatogenesis; carbohydrate metabolic process; hemopoiesis;
	Sources:Amigo / QuickGO
Orthologs
	5238
	109785
	ENSG00000013375
	ENSMUSG00000056131
	O95394
	Q9CYR6
NM_001199917; NM_001199918; NM_001199919; NM_015599; NM_001367286;
	NM_001367287
	NM_001163746; NM_028352
NP_001186846; NP_001186847; NP_001186848; NP_056414; NP_001354215;
	NP_001354216
	NP_001157218; NP_082628
	Wikidata
View/Edit Human	View/Edit Mouse

Phosphoacetylglucosamine mutase is an enzyme that in humans is encoded by the PGM3 gene.⁵⁶⁷

Clinical significance

Mutations in PGM3 are associated to congenital disorder of glycosylation.⁸

References

GRCh38: Ensembl release 89: ENSG00000013375 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000056131 – 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.
Pang H, Koda Y, Soejima M, Kimura H (March 2002). "Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1)". Annals of Human Genetics. 66 (Pt 2): 139–44. doi:10.1046/j.1469-1809.2002.00103.x. PMID 12174217. S2CID 90947429.
Li C, Rodriguez M, Banerjee D (January 2000). "Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein". Gene. 242 (1–2): 97–103. doi:10.1016/S0378-1119(99)00543-0. PMID 10721701.
"Entrez Gene: PGM3 phosphoglucomutase 3".
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, et al. (July 2014). "PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia". American Journal of Human Genetics. 95 (1): 96–107. doi:10.1016/j.ajhg.2014.05.007. PMC 4085583. PMID 24931394.

External links

Overview of all the structural information available in the PDB for UniProt: Q9CYR6 (Mouse Phosphoacetylglucosamine mutase) at the PDBe-KB.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000013375 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000056131 – 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.

[pmid12174217-5] Pang H, Koda Y, Soejima M, Kimura H (March 2002). "Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1)". Annals of Human Genetics. 66 (Pt 2): 139–44. doi:10.1046/j.1469-1809.2002.00103.x. PMID 12174217. S2CID 90947429.

[pmid10721701-6] Li C, Rodriguez M, Banerjee D (January 2000). "Cloning and characterization of complementary DNA encoding human N-acetylglucosamine-phosphate mutase protein". Gene. 242 (1–2): 97–103. doi:10.1016/S0378-1119(99)00543-0. PMID 10721701.

[entrez-7] "Entrez Gene: PGM3 phosphoglucomutase 3".

[8] Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, et al. (July 2014). "PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia". American Journal of Human Genetics. 95 (1): 96–107. doi:10.1016/j.ajhg.2014.05.007. PMC 4085583. PMID 24931394.

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Clinical significance

References

Further reading

External links