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
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7151461 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Liu et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
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 |
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 |
Domain Details Per Protein
Protein | Length | Glycosyl transferase, family 13 | ILEI/PANDER domain | Nucleotide-diphospho-sugar transferases | O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase | Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, PANDER-like domain |
---|---|---|---|---|---|---|
UniProtKB:Q4V907
|
568 | |||||
UniProtKB:F1QNB2
|
653 | |||||
UniProtKB:Q0PIP4
|
653 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
pomgnt1-201
(1)
|
Havana | 3428 nt | |
mRNA |
pomgnt1-202
(1)
|
Havana | 790 nt |
Interactions and Pathways
No data available
Plasmids
No data available