POMGNT1

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

POMGNT1
Identifiers
Aliases	POMGNT1, 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 IDs	OMIM: 606822; MGI: 1915523; HomoloGene: 9806; GeneCards: POMGNT1; OMA:POMGNT1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.1 Start 46,188,683 bp[1] End 46,220,305 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D1 Start 115,981,037 bp[2] End 116,017,046 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart C1 segment anterior pituitary left ventricle right lobe of thyroid gland left lobe of thyroid gland right frontal lobe gastrocnemius muscle right auricle of heart nucleus accumbens Top expressed in lacrimal gland spermatid spermatocyte choroid plexus of fourth ventricle salivary gland Epithelium of choroid plexus submandibular gland parotid gland seminal vesicula muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity protein binding glycosyltransferase activity beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity acetylglucosaminyltransferase activity manganese ion binding metal ion binding Cellular component Golgi apparatus membrane Golgi membrane integral component of membrane integral component of Golgi membrane Biological process protein glycosylation protein O-linked glycosylation O-glycan processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55624 68273 Ensembl ENSG00000085998 ENSMUSG00000028700 UniProt Q8WZA1 Q91X88 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 Mb Chr 4: 115.98 – 116.02 Mb PubMed search [3] [4]
Wikidata
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Function and expression

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]