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POMGNT1

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(Redirected from POMGNT1 (gene))
POMGNT1
Identifiers
AliasesPOMGNT1, GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), RP76, LGMDR15
External IDsOMIM: 606822; MGI: 1915523; HomoloGene: 9806; GeneCards: POMGNT1; OMA:POMGNT1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001243766
NM_001290129
NM_001290130
NM_017739

NM_001290658
NM_026651
NM_029786

RefSeq (protein)

NP_001230695
NP_001277058
NP_001277059
NP_060209

NP_001277587
NP_080927
NP_084062

Location (UCSC)Chr 1: 46.19 – 46.22 MbChr 4: 115.98 – 116.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene.[5][6]

Function and expression

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The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), participates in O-mannosyl glycan synthesis. A mutation in this gene is the cause of muscle-eye-brain disease (MIM 253280).[7]

Transcription of the POMGNT1 gene gives rise to a 2.7 kb mRNA in different tissues, with higher expression levels in the skeletal muscle, heart, and kidney and lower levels in the brain.[8] POMGnT1 (EC 2.4.1.101) is a protein belonging to the GT13 family of glycosyltransferases according to the Carbohydrate-Active enZYmes (CAZy) database.[9] In humans, the main isoform of POMGnT1 contains 660 amino acids whose sequence yields a calculated molecular mass of 75,252 Da (UniProtKB Q8WZA1).

The POMGNT1 mRNA and its encoded protein is expressed in the neural retina of all mammals studied. POMGnT1 locates in the cytoplasmic fraction in the mouse retina, where it concentrates in the Golgi complex within the myoid of photoreceptor inner segments.[10]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000085998Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028700Ensembl, 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. ^ Zhang W, Betel D, Schachter H (January 2002). "Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I". The Biochemical Journal. 361 (Pt 1): 153–62. doi:10.1042/0264-6021:3610153. PMC 1222290. PMID 11742540.
  6. ^ "Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase".
  7. ^ "OMIM Entry - # 253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3". www.omim.org. Retrieved 2016-04-26.
  8. ^ Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. (November 2001). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Developmental Cell. 1 (5): 717–24. doi:10.1016/s1534-5807(01)00070-3. PMID 11709191.
  9. ^ Lombard V, Golaconda Ramulu H, Drula E, Coutinho PM, Henrissat B (January 2014). "The carbohydrate-active enzymes database (CAZy) in 2013". Nucleic Acids Research. 42 (Database issue): D490-5. doi:10.1093/nar/gkt1178. PMC 3965031. PMID 24270786.
  10. ^ Uribe ML, Haro C, Ventero MP, Campello L, Cruces J, Martín-Nieto J (2016). "Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease". Molecular Vision. 22: 658–73. PMC 4911909. PMID 27375352.

Further reading

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