Gene

pomt1

ID

ZDB-GENE-060929-966

Name

protein-O-mannosyltransferase 1

Symbol

pomt1 Nomenclature History

Previous Names

zgc:153731

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Exhibits dolichyl-phosphate-mannose-protein mannosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to localize to endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in cardiomyopathy; cleft lip; lissencephaly; and muscular dystrophy (multiple). Is expressed in several structures, including digestive system; immature eye; muscle; nervous system; and pleuroperitoneal region. Orthologous to human POMT1 (protein O-mannosyltransferase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Avsar-Ban et al., 2010
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pomt1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive limb-girdle muscular dystrophy type 2K	Alliance	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	609308
congenital muscular dystrophy-dystroglycanopathy type A1	Alliance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	236670
muscular dystrophy-dystroglycanopathy type B1	Alliance	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1	613155

Associated With pomt1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR003342	Glycosyl transferase family 39/83
Domain	IPR016093	MIR motif
Domain	IPR032421	Protein O-mannosyl-transferase, C-terminal four TM domain
Family	IPR027005	Glycosyltransferase 39-like
Homologous_superfamily	IPR036300	Mir domain superfamily