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
- Predicted to be located in membrane. Predicted to be part of collagen trimer. 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