Gene
plod1a
- ID
- ZDB-GENE-030131-3165
- Name
- procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1a
- Symbol
- plod1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have procollagen-lysine 5-dioxygenase activity. Involved in fin morphogenesis. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome. Is expressed in several structures, including cranium; notochord; otic vesicle; pectoral fin; and shield. Orthologous to human PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from DurĂ¡n et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Ehlers-Danlos syndrome kyphoscoliotic type 1 | Alliance | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | 225400 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR001006 | Procollagen-lysine 5-dioxygenase, conserved site |
Domain | IPR005123 | Oxoglutarate/iron-dependent dioxygenase domain |
Domain | IPR006620 | Prolyl 4-hydroxylase, alpha subunit |
Domain | IPR044861 | Isopenicillin N synthase-like, Fe(2+) 2OG dioxygenase domain |
Family | IPR050757 | Collagen-modifying Glycosyltransferase 25 |
Homologous_superfamily | IPR029044 | Nucleotide-diphospho-sugar transferases |
Domain Details Per Protein
Protein | Length | Collagen-modifying Glycosyltransferase 25 | Isopenicillin N synthase-like, Fe(2+) 2OG dioxygenase domain | Nucleotide-diphospho-sugar transferases | Oxoglutarate/iron-dependent dioxygenase domain | Procollagen-lysine 5-dioxygenase, conserved site | Prolyl 4-hydroxylase, alpha subunit |
---|---|---|---|---|---|---|---|
UniProtKB:A8WIN7
|
730 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
aberrant processed transcript |
plod1a-203
(1)
|
Ensembl | 664 nt | ||
mRNA |
plod1a-201
(1)
|
Ensembl | 2,767 nt | ||
ncRNA |
plod1a-003
(1)
|
Ensembl | 406 nt |
Interactions and Pathways
No data available
Plasmids
No data available