Gene

col17a1b

ID
ZDB-GENE-030131-7145
Name
collagen, type XVII, alpha 1b
Symbol
col17a1b Nomenclature History
Previous Names
  • col17a1 (1)
  • col17a1a
  • fk89a06
  • si:ch211-223p8.6
  • wu:fk89a06 (1)
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Predicted to have extracellular matrix structural constituent. Involved in lateral line system development. Predicted to localize to extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in epithelial recurrent erosion dystrophy; junctional epidermolysis bullosa; and junctional epidermolysis bullosa non-Herlitz type. Is expressed in hypodermis; lateral line; and neuromast. Orthologous to human COL17A1 (collagen type XVII alpha 1 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Kim et al., 2010
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col17a1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
epithelial recurrent erosion dystrophy Alliance Epithelial recurrent erosion dystrophy 122400
junctional epidermolysis bullosa non-Herlitz type Alliance Epidermolysis bullosa, junctional, localisata variant 226650
junctional epidermolysis bullosa non-Herlitz type Alliance Epidermolysis bullosa, junctional, non-Herlitz type 226650
Associated With col17a1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen triple helix repeat
UniProtKB:F1R7W0 663
UniProtKB:F1QTH6 170
UniProtKB:F1R619 1368
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