DPM1

Last updated
DPM1
Identifiers
Aliases DPM1 , CDGIE, MPDS, dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit, dolichyl-phosphate mannosyltransferase subunit 1, catalytic
External IDs OMIM: 603503 MGI: 1330239 HomoloGene: 2865 GeneCards: DPM1
Orthologs
SpeciesHumanMouse
Entrez

8813

13480

Ensembl

ENSG00000000419

ENSMUSG00000078919

UniProt

O60762

O70152

RefSeq (mRNA)

NM_003859
NM_001317034
NM_001317035
NM_001317036

NM_010072
NM_001310084

RefSeq (protein)

NP_001303963
NP_001303964
NP_001303965
NP_003850

NP_001297013
NP_034202

Location (UCSC) Chr 20: 50.93 – 50.96 Mb Chr 2: 168.05 – 168.07 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Dolichol-phosphate mannosyltransferase is an enzyme that in humans is encoded by the DPM1 gene. [5] [6] [7]

Contents

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. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. [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.

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

<span class="mw-page-title-main">Dolichol kinase</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">PMM2</span> Protein-coding gene in the species Homo sapiens

Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.

<span class="mw-page-title-main">ALG6</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">DPAGT1</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">PMM1</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">ALG9</span> Protein-coding gene in the species Homo sapiens

Alpha-1,2-mannosyltransferase ALG9 is an enzyme that in humans is encoded by the ALG9 gene.

<span class="mw-page-title-main">POMT1</span> Mammalian protein found in Homo sapiens

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.

<span class="mw-page-title-main">ALG2</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">MPDU1</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">ALG12</span> Enzyme-coding gene in humans

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.

<span class="mw-page-title-main">ALG3</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">PIGB</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">ALG1</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">Dehydrodolichyl diphosphate synthase</span> Enzyme found in humans

Dehydrodolichyl diphosphate synthase is an enzyme that in humans is encoded by the DHDDS gene.

<span class="mw-page-title-main">DPM3</span> Protein-coding gene in the species Homo sapiens

dolichyl-phosphate mannosyltransferase polypeptide 3, also known as DPM3, is a human gene.

<span class="mw-page-title-main">DPM2</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">ALG6 (enzyme class)</span>

Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichol alpha-1,3-glucosyltransferase is an enzyme with systematic name dolichyl beta-D-glucosyl phosphate:D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha- -D-Man-alpha- - -D-Man-alpha- )-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol alpha-1,3-glucosyltransferase.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000000419 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000078919 - 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. ↑ Colussi PA, Taron CH, Mack JC, Orlean P (Jul 1997). "Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe". Proceedings of the National Academy of Sciences of the United States of America. 94 (15): 7873–8. Bibcode:1997PNAS...94.7873C. doi: 10.1073/pnas.94.15.7873 . PMC   21522 . PMID   9223280.
  6. ↑ Tomita S, Inoue N, Maeda Y, Ohishi K, Takeda J, Kinoshita T (Apr 1998). "A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells". The Journal of Biological Chemistry. 273 (15): 9249–54. doi: 10.1074/jbc.273.15.9249 . PMID   9535917.
  7. 1 2 "Entrez Gene: DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit".

Further reading


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