DPM3

DPM3
Identifiers
Aliases	DPM3 , CDG1O, dolichyl-phosphate mannosyltransferase subunit 3, dolichyl-phosphate mannosyltransferase subunit 3, regulatory, MDDGB15, MDDGC15
External IDs	OMIM: 605951 MGI: 1915813 HomoloGene: 17810 GeneCards: DPM3
Gene location (Human)
Chr.	Chromosome 1 (human)
End	155,140,595 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	89,174,386 bp
RNA expression pattern
	Top expressed in
	anterior pituitary; ; right adrenal gland; ; right uterine tube; ; monocyte; ; body of pancreas; ; canal of the cervix; ; right lobe of liver; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; body of stomach;
	Top expressed in
	intestinal villus; ; yolk sac; ; lip; ; esophagus; ; ankle joint; ; interventricular septum; ; superior frontal gyrus; ; corneal stroma; ; blastocyst; ; morula;
	More reference expression data
	n/a
Gene ontology
Molecular function	dolichyl-phosphate beta-D-mannosyltransferase activity ; protein binding ;
Cellular component	integral component of membrane ; dolichol-phosphate-mannose synthase complex ; integral component of endoplasmic reticulum membrane ; mannosyltransferase complex ; endoplasmic reticulum membrane ; endoplasmic reticulum ; membrane ;
Biological process	protein glycosylation ; GPI anchor biosynthetic process ; protein mannosylation ; protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan ; regulation of protein stability ; protein O-linked mannosylation ; protein N-linked glycosylation via asparagine ; carbohydrate metabolic process ;
	Sources:Amigo / QuickGO
Orthologs
	54344
	68563
	ENSG00000179085
	ENSMUSG00000042737
	Q9P2X0 ; Q86TM7
	Q9D1Q4
	NM_153741 ; NM_018973
	NM_026767
	NP_061846 ; NP_714963 ; NP_714963.1
	NP_081043
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated January 20, 2024

dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.^[5]^[6]

Function

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex.^[5]

Clinical significance

Mutations in this gene are associated with congenital disorder of glycosylation type 1O.^[7]

Related Research Articles

A congenital disorder of glycosylation is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems in affected infants. The most common sub-type is PMM2-CDG where the genetic defect leads to the loss of phosphomannomutase 2 (PMM2), the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate.

Dolichol refers to any of a group of long-chain mostly unsaturated organic compounds that are made up of varying numbers of isoprene units terminating in an α-saturated isoprenoid group, containing an alcohol functional group.

In enzymology, a dolichyl-phosphate beta-D-mannosyltransferase is an enzyme that catalyzes the chemical reaction

In enzymology, a dolichyl-phosphate-mannose-protein mannosyltransferase is an enzyme that catalyzes the chemical reaction

In enzymology, a dolichol kinase is an enzyme that catalyzes the chemical reaction

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG6 gene.

UDP-N-acetylglucosamine—dolichyl-phosphate N-acetylglucosaminephosphotransferase is an enzyme that in humans is encoded by the DPAGT1 gene.

Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene.

Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene. It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases.

Alpha-1,3/1,6-mannosyltransferase ALG2 is an enzyme that is encoded by the ALG2 gene. Mutations in the human gene are associated with congenital defects in glycosylation The protein encoded by the ALG2 gene belongs to two classes of enzymes: GDP-Man:Man1GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase and GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase.

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG8 gene.

Dolichol-phosphate mannosyltransferase is an enzyme that in humans is encoded by the DPM1 gene.

Mannose-P-dolichol utilization defect 1 protein is a protein that in humans is encoded by the MPDU1 gene.

Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase is an enzyme that in humans is encoded by the ALG12 gene.

Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase is an enzyme that, in humans, is encoded by the ALG3 gene.

GPI mannosyltransferase 3 is an enzyme that in humans is encoded by the PIGB gene.

Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1 whose structure and function has been conserved from lower to higher organisms.

Dolichol phosphate-mannose biosynthesis regulatory protein is a protein that in humans is encoded by the DPM2 gene.

Asparagine-linked glycosylation protein 11 is an enzyme encoded by the ALG11 gene.

Dolichyl-P-Man:Man5GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase is an enzyme with systematic name dolichyl beta-D-mannosyl phosphate:D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha- )-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol alpha-1,3-mannosyltransferase. This enzyme catalyses the following chemical reaction

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000179085 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042737 - 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.
1 2 "Entrez Gene: dolichyl-phosphate mannosyltransferase polypeptide 3".
↑ Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T (June 2000). "Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3". EMBO J. 19 (11): 2475–82. doi:10.1093/emboj/19.11.2475. PMC 212771 . PMID 10835346.
↑ Haeuptle MA, Hennet T (December 2009). "Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides" (PDF). Hum. Mutat. 30 (12): 1628–41. doi:10.1002/humu.21126. PMID 19862844. S2CID 46281092. Archived from the original (PDF) on 2021-05-18. Retrieved 2019-12-11.

External links

GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000179085 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042737 - 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.

[entrez-5] 1 2 "Entrez Gene: dolichyl-phosphate mannosyltransferase polypeptide 3".

[pmid10835346-6] Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T (June 2000). "Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3". EMBO J. 19 (11): 2475–82. doi:10.1093/emboj/19.11.2475. PMC 212771 . PMID 10835346.

[pmid19862844-7] Haeuptle MA, Hennet T (December 2009). "Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides" (PDF). Hum. Mutat. 30 (12): 1628–41. doi:10.1002/humu.21126. PMID 19862844. S2CID 46281092. Archived from the original (PDF) on 2021-05-18. Retrieved 2019-12-11.

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v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)