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 enable beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity. Predicted to be involved in O-glycan processing. Predicted to act upstream of or within protein glycosylation. Predicted to be located in membrane. Predicted to be active in Golgi membrane. Is expressed in several structures, including axis; fin bud; myotome; nervous system; and shield. Human ortholog(s) of this gene implicated in lissencephaly; muscular dystrophy (multiple); and retinitis pigmentosa. 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