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
Note
None
Comparative Information
Expression
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
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col13a1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital myasthenic syndrome 19 Alliance Myasthenic syndrome, congenital, 19 616720
Associated With col13a1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR050938 Collagen and Collagen-like Structural Proteins
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Additional Resources Length Collagen and Collagen-like Structural Proteins Collagen triple helix repeat
UniProtKB:A0A8M9PB14 InterPro 750
UniProtKB:A0A8M9PB31 InterPro 739
UniProtKB:A0A8M9PB52 InterPro 736
UniProtKB:A0A8M9PB74 InterPro 727
UniProtKB:A0A8M9PMN0 InterPro 738
UniProtKB:A0A8M9PMP1 InterPro 735
UniProtKB:A0A8M9PMQ1 InterPro 724
UniProtKB:A0A8M9PTQ4 InterPro 748
UniProtKB:A0A8M9PTR5 InterPro 737
UniProtKB:A0A8M9PTT8 InterPro 734
UniProtKB:A0A8M9PTV4 InterPro 697
UniProtKB:A0A8M9Q0V2 InterPro 750
UniProtKB:A0A8M9Q0Y8 InterPro 739
UniProtKB:A0A8M9Q0Z9 InterPro 736
UniProtKB:A0A8M9Q109 InterPro 728
UniProtKB:A0A8M9Q436 InterPro 751
UniProtKB:A0A8M9Q4D2 InterPro 741
UniProtKB:A0A8M9Q4F2 InterPro 736
UniProtKB:A0A8M9Q4S6 InterPro 729
UniProtKB:A0AB32T3Q1 InterPro 616
UniProtKB:A0AB32TMN3 InterPro 733
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations
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