MAN2A1

Last updated
MAN2A1
Identifiers
Aliases MAN2A1 , AMan II, GOLIM7, MANA2, MANII, mannosidase alpha class 2A member 1
External IDs OMIM: 154582; MGI: 104669; HomoloGene: 1777; GeneCards: MAN2A1; OMA:MAN2A1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002372

NM_008549

RefSeq (protein)

NP_002363

NP_032575

Location (UCSC) Chr 5: 109.69 – 109.87 Mb Chr 17: 64.91 – 65.06 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Alpha-mannosidase 2 is an enzyme that in humans is encoded by the MAN2A1 gene. [5] [6] [7]

Contents

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. [7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000112893 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024085 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. 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.
  6. 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.
  7. 1 2 "Entrez Gene: MAN2A1 mannosidase, alpha, class 2A, member 1".

Further reading