Gene
col13a1
- ID
- ZDB-GENE-030131-1874
- Name
- collagen, type XIII, alpha 1
- Symbol
- col13a1 Nomenclature History
- Previous Names
-
- fb83c11
- wu:fb83c11 (1)
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 19. Orthologous to human COL13A1 (collagen type XIII alpha 1 chain).
- Genome Resources
-
- Alliance (1)
- Gene:323154 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Joshi et al., 2021
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myasthenic syndrome 19 | Alliance | Myasthenic syndrome, congenital, 19 | 616720 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Collagen and Collagen-like Structural Proteins | Collagen triple helix repeat |
|---|---|---|---|
|
UniProtKB:A0A8M9PB14
|
750 | ||
|
UniProtKB:A0A8M9PB31
|
739 | ||
|
UniProtKB:A0A8M9PB52
|
736 | ||
|
UniProtKB:A0A8M9PB74
|
727 | ||
|
UniProtKB:A0A8M9PMN0
|
738 | ||
|
UniProtKB:A0A8M9PMP1
|
735 | ||
|
UniProtKB:A0A8M9PMQ1
|
724 | ||
|
UniProtKB:A0A8M9PTQ4
|
748 | ||
|
UniProtKB:A0A8M9PTR5
|
737 | ||
|
UniProtKB:A0A8M9PTT8
|
734 | ||
|
UniProtKB:A0A8M9PTV4
|
697 | ||
|
UniProtKB:A0A8M9Q0V2
|
750 | ||
|
UniProtKB:A0A8M9Q0Y8
|
739 | ||
|
UniProtKB:A0A8M9Q0Z9
|
736 | ||
|
UniProtKB:A0A8M9Q109
|
728 | ||
|
UniProtKB:A0A8M9Q436
|
751 | ||
|
UniProtKB:A0A8M9Q4D2
|
741 | ||
|
UniProtKB:A0A8M9Q4F2
|
736 | ||
|
UniProtKB:A0A8M9Q4S6
|
729 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance