Protein O-Mannosyltransferase 1

Alternative Names

POMT1
Rotated Abdomen, Drosophila, Homolog of
RT

Length

No. of Exons

No. of isoforms

Protein Name

Protein O-mannosyl-transferase 1

Molecular Mass

84881

Amino Acid Count

747

Genomic Location

chr9:134,378,289-134,399,193

Gene Map Locus

9q34.13

Description

The POMT1 gene encodes protein O-mannosyltransferase, an enzyme that catalyzes O-mannosylation of proteins, an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of 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 [from OMIM].

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001077365.2:c.1175+4_1175+7del	Saudi Arabia	NC_000009.12:g.131513335_131513338del	Likely Pathogenic, Uncertain Significance	Pathogenic	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1	NG_008896.2:g.15434_15437del; NM_001077365.2:c.1175+4_1175+7del; NP_001070833.1:p.?	1588409344	800791
NM_001077365.2:c.2113_2114del	Saudi Arabia	NC_000009.12:g.131523041_131523042del	Pathogenic	Pathogenic	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1	NG_008896.2:g.25140_25141del; NM_001077365.2:c.2113_2114del; NP_001070833.1:p.Ser705AlafsTer3	587777819	3252
NM_001077365.2:c.280+1G>T	Saudi Arabia	NC_000009.12:g.131506454G>T	Pathogenic	Pathogenic	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1	NG_008896.2:g.8553G>T; NM_001077365.2:c.280+1G>T	746823238	691982
NM_001077365.2:c.443C>A	Lebanon	chr9:131508926	Pathogenic	Pathogenic	Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1	NG_008896.1:g.11025C>A; NM_001077365.2:c.443C>A; NP_001070833.1:p.Thr148Asn	1564341846	562183
NM_007171.3:c.1456delT	Lebanon; Qatar	NC_000009.12:g.131518861del		Likely Pathogenic	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1	NG_008896.1:g.20960del; NM_007171.3:c.1456delT; NP_009102.3:p.Trp486GlyfsTer71
NM_007171.3:c.314G>A	Lebanon	NC_000009.12:g.131507401G>A		Likely Pathogenic	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1	NG_008896.1:g.9500G>A; NM_007171.3:c.314G>A; NP_009102.3:p.Arg105His	1554772469
NM_007171.4:c.226G>C	Lebanon	chr9:131506217	Likely Pathogenic	Likely Pathogenic	Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1	NG_008896.1:g.8316G>C; NM_007171.4:c.226G>C; NP_001070833.1:p.Gly76Arg	28941782	3238

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External Links

https://medlineplus.gov/genetics/gene/pomt1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=POMT1

Contributors

Sami Bizzari: 17.11.2020

Edit History

Sayeeda Hana: 05.10.2022
Sami Bizzari: 04.01.2021
Sami Bizzari: 18.11.2020
Sami Bizzari: 17.11.2020
Pratibha Nair: 10.12.2018

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