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
Thisse Expression Data
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
Homologous_superfamily IPR029044 Nucleotide-diphospho-sugar transferases
Domain Details Per Protein
Protein Length Glycosyl transferase, family 13 ILEI/PANDER domain Nucleotide-diphospho-sugar transferases Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, PANDER-like domain
UniProtKB:Q4V907 568
UniProtKB:F1QNB2 653
UniProtKB:Q0PIP4 653
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations