ALG3

From Wikipedia, the free encyclopedia

Asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)

Identifiers

ALG3; CDGS4; D16Ertd36e; NOT56L; Not56

External IDs

OMIM: 608750 MGI: 1098592 HomoloGene: 4228

Gene ontology
Molecular Function:	• mannosyltransferase activity • transferase activity, transferring glycosyl groups
Cellular Component:	• endoplasmic reticulum • membrane • integral to membrane • integral to endoplasmic reticulum membrane
Biological Process:	• protein amino acid glycosylation

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_005787 (mRNA)
NP_005778 (protein)

NM_145939 (mRNA)
NP_666051 (protein)

Location

n/a

Chr 16: 20.52 - 20.52 Mb

Pubmed search

[1]

[2]

Asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase), also known as ALG3, is a human gene.^[1]

This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation.^[1]

[edit] References

^ ^a ^b Entrez Gene: ALG3 asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase).

[edit] Further reading

Jaeken J (2005). "Congenital disorders of glycosylation (CDG): update and new developments.". J. Inherit. Metab. Dis. 27 (3): 423–6. PMID 15272470.
Jaeken J, Carchon H (2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics.". Curr. Opin. Pediatr. 16 (4): 434–9. PMID 15273506.
Jerrold LE (1975). "Will an electric current replace the syringe for anesthesia?". Dental student 53 (5): 49, 54. PMID 1058125.
Stibler H, Stephani U, Kutsch U (1996). "Carbohydrate-deficient glycoprotein syndrome--a fourth subtype.". Neuropediatrics 26 (5): 235–7. PMID 8552211.
Körner C, Knauer R, Stephani U, et al. (2000). "Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.". EMBO J. 18 (23): 6816–22. doi:10.1093/emboj/18.23.6816. PMID 10581255.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Denecke J, Kranz C, Kemming D, et al. (2004). "An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).". Hum. Mutat. 23 (5): 477–86. doi:10.1002/humu.20026. PMID 15108280.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Denecke J, Kranz C, von Kleist-Retzow JCh, et al. (2005). "Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.". Pediatr. Res. 58 (2): 248–53. doi:10.1203/01.PDR.0000169963.94378.B6. PMID 16006436.