Gene

pomgnt1

ID

ZDB-GENE-070112-991

Name

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Symbol

pomgnt1 Nomenclature History

Previous Names

im:7151461
zgc:158130

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Description

Predicted to have beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity. Predicted to be involved in O-glycan processing. Predicted to localize to integral component of Golgi membrane. Human ortholog(s) of this gene implicated in lissencephaly; muscular dystrophy (multiple); and retinitis pigmentosa. Is expressed in several structures, including axis; fin bud; myotome; nervous system; and shield. Orthologous to human POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7151461 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from Liu et al., 2020
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pomgnt1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive limb-girdle muscular dystrophy type 2O	Alliance	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	613157
congenital muscular dystrophy-dystroglycanopathy type A3	Alliance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	253280
muscular dystrophy-dystroglycanopathy type B3	Alliance	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3	613151
		Retinitis pigmentosa 76	617123

Associated With pomgnt1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR039474	Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, PANDER-like domain
Domain	IPR039477	ILEI/PANDER domain
Family	IPR004139	Glycosyl transferase, family 13
Family	IPR052463	O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase
Homologous_superfamily	IPR029044	Nucleotide-diphospho-sugar transferases