Community Action Needed: Please respond to the NIH RFI
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
Enables dolichyl-phosphate-mannose-protein mannosyltransferase activity. Acts upstream of or within protein O-linked mannosylation. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including digestive system; immature eye; muscle; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in cardiomyopathy; cleft lip; lissencephaly; and muscular dystrophy (multiple). 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
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 Alliance Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), 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
Domain Details Per Protein
Protein Length Glycosyltransferase 39-like Glycosyl transferase family 39/83 Mir domain superfamily MIR motif Protein O-mannosyl-transferase, C-terminal four TM domain
UniProtKB:F1QF89 720
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