ALG12

Last updated
ALG12
Identifiers
Aliases ALG12 , CDG1G, ECM39, PP14673, halpha-1,6-mannosyltransferase, ALG12 alpha-1,6-mannosyltransferase
External IDs OMIM: 607144 MGI: 2385025 HomoloGene: 36269 GeneCards: ALG12
Orthologs
SpeciesHumanMouse
Entrez

79087

223774

Ensembl

ENSG00000182858

ENSMUSG00000035845

UniProt

Q9BV10

Q8VDB2

RefSeq (mRNA)

NM_024105

NM_001142357
NM_145477

RefSeq (protein)

NP_077010

NP_001135829
NP_663452

Location (UCSC) Chr 22: 49.9 – 49.92 Mb Chr 15: 88.69 – 88.7 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. [5] [6]

Contents

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig) characterized by abnormal N-glycosylation. [6]

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.

<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">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>

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">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">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">ALG8</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">DPM1</span>

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

<span class="mw-page-title-main">MPDU1</span>

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">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">ALG1</span>

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> Protein-coding gene in the species Homo sapiens

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">ALG14</span> Protein-coding gene in the species Homo sapiens

UDP-N-acetylglucosamine transferase subunit ALG14 homolog is a protein that in humans is encoded by the ALG14 gene.

<span class="mw-page-title-main">ALG13</span> Protein-coding gene in the species Homo sapiens

UDP-N-acetylglucosamine transferase subunit ALG13 homolog, also known as asparagine-linked glycosylation 13 homolog, is an enzyme that in humans is encoded by the ALG13 gene.

<span class="mw-page-title-main">ALG11</span> Protein-coding gene in the species Homo sapiens

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

GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase is an enzyme with systematic name GDP-D-mannose:D-Man-alpha-(1->3)-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol alpha-6-mannosyltransferase. This enzyme catalyses the following chemical reaction

Dolichyl-P-Man:Man6GlcNAc2-PP-dolichol alpha-1,2-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-alpha- )-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol alpha-1,2-mannosyltransferase. This enzyme catalyses the following chemical reaction

<span class="mw-page-title-main">ALG8 (enzyme class)</span>

Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichol alpha-1,3-glucosyltransferase is an enzyme with systematic name dolichyl beta-D-glucosyl phosphate:D-Glc-alpha-(1->3)-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: ENSG00000182858 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035845 - 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. ↑ Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE (Jul 2002). "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase". J Biol Chem. 277 (28): 25815–22. doi: 10.1074/jbc.M203285200 . PMID   11983712.
  6. 1 2 "Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)".

Further reading



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