Gene

col17a1a

ID
ZDB-GENE-090313-107
Name
collagen, type XVII, alpha 1a
Symbol
col17a1a Nomenclature History
Previous Names
  • col17a1
  • col17a1b
  • si:ch211-281g13.3 (1)
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Description
Predicted to have extracellular matrix structural constituent. Involved in epidermis 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 corneal epithelial cell; epithelium; hypodermis; and integument. Orthologous to human COL17A1 (collagen type XVII alpha 1 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col17a1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
epithelial recurrent erosion dystrophy Alliance Epithelial recurrent erosion dystrophy 122400
Epidermolysis bullosa, junctional 4, intermediate 619787
Associated With col17a1a 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
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