MAN2A1

Alpha-mannosidase 2 is an enzyme that in humans is encoded by the MAN2A1 gene.[4][5][6]

MAN2A1
Identifiers
AliasesMAN2A1, AMan II, GOLIM7, MANA2, MANII, mannosidase alpha class 2A member 1
External IDsOMIM: 154582 MGI: 104669 HomoloGene: 1777 GeneCards: MAN2A1
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q21.3Start109,689,366 bp[1]
End109,869,625 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

4124

17158

Ensembl

ENSG00000112893

ENSMUSG00000024085

UniProt

Q16706

P27046

RefSeq (mRNA)

NM_002372

NM_008549

RefSeq (protein)

NP_002363

NP_032575

Location (UCSC)Chr 5: 109.69 – 109.87 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes a protein which is a member of family 38 of the glycosyl hydrolases. The protein is located in the Golgi apparatus and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-linked glycosylation) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000112893 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. Moremen KW, Robbins PW (Dec 1991). "Isolation, characterization, and expression of cDNAs encoding murine alpha-mannosidase II, a Golgi enzyme that controls conversion of high mannose to complex N-glycans". The Journal of Cell Biology. 115 (6): 1521–34. doi:10.1083/jcb.115.6.1521. PMC 2289207. PMID 1757461.
  5. Oka T, Ungar D, Hughson FM, Krieger M (May 2004). "The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins". Molecular Biology of the Cell. 15 (5): 2423–35. doi:10.1091/mbc.E03-09-0699. PMC 404034. PMID 15004235.
  6. "Entrez Gene: MAN2A1 mannosidase, alpha, class 2A, member 1".

Further reading

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