POMT1

POMT1
Identifiers
Aliases	POMT1, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT, protein O-mannosyltransferase 1
External IDs	OMIM: 607423; MGI: 2138994; HomoloGene: 68548; GeneCards: POMT1; OMA:POMT1 - orthologs
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	32,255,005 bp
RNA expression pattern
	n/a
	Top expressed in
	spermatocyte; ; spermatid; ; seminiferous tubule; ; crypt of lieberkuhn of small intestine; ; brown adipose tissue; ; proximal tubule; ; masseter muscle; ; neural layer of retina; ; right kidney; ; intercostal muscle;
	More reference expression data
Gene ontology
Molecular function	glycosyltransferase activity; dolichyl-phosphate-mannose-protein mannosyltransferase activity; transferase activity; mannosyltransferase activity; metal ion binding;
Cellular component	integral component of membrane; acrosomal vesicle; endoplasmic reticulum; sarcoplasmic reticulum; membrane; endoplasmic reticulum membrane;
Biological process	multicellular organism development; protein glycosylation; protein O-linked glycosylation; extracellular matrix organization; protein O-linked mannosylation; ER-associated misfolded protein catabolic process; mannosylation; positive regulation of protein O-linked glycosylation; carbohydrate metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	10585
	99011
	ENSG00000130714
	ENSMUSG00000039254
	Q9Y6A1; Q5JT04
	Q8R2R1
	NM_001077365; NM_001077366; NM_001136113; NM_001136114; NM_007171
	NM_145145
NP_001070833; NP_001070834; NP_001129585; NP_001129586; NP_009102;
	NP_001340122; NP_001340123; NP_001340124; NP_001340125; NP_001340126; NP_001340127; NP_001340128; NP_001340129; NP_001361618; NP_001361619; NP_001361620; NP_001361621; NP_001361622; NP_001361624
	NP_660127
	Wikidata
View/Edit Human	View/Edit Mouse

Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene.^[4]^[5] It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases.

Function

O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which when mutated causes defects in myogenesis and muscle structure.[supplied by OMIM]^[5]

It is associated with limb-girdle muscular dystrophy type LGMD2K.^[6]

In the retina it is known that O-mannosylation of α-DG carried out by POMT1 is crucial for the establishment of proper synapses at the outer plexiform layer and the transmission of visual information from cones and rods to their postsynaptic neurons, i.e. bipolar and horizontal cells.^[7] Lack of POMT1 expression results in a good number of impairments in photoreceptors that have been documented at the proteomic, morphological and physiological levels.^[7]^[8]