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 be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within epidermis development. Predicted to be located in basement membrane; hemidesmosome; and membrane. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix. Is expressed in corneal epithelial cell; epithelium; hypodermis; and integument. Human ortholog(s) of this gene implicated in epithelial recurrent erosion dystrophy and junctional epidermolysis bullosa. 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
Allele Type Localization Consequence Mutagen Supplier
la021262TgTransgenic insertionUnknownUnknownDNA
sa652Allele with one point mutationUnknownPremature StopENU
sa7401Allele with one point mutationUnknownMissenseENU
sa16045Allele with one point mutationUnknownSplice SiteENU
sa19578Allele with one point mutationUnknownSplice SiteENU
sa19579Allele with one point mutationUnknownPremature StopENU
sa19580Allele with one point mutationUnknownSplice SiteENU
sa32763Allele with one point mutationUnknownSplice SiteENU
sa39682Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
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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
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Associated With col17a1a 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
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Domain Details Per Protein
Protein Additional Resources Length Collagen and Collagen-like Structural Proteins Collagen triple helix repeat
UniProtKB:A0A8M9PH43 InterPro 1397
UniProtKB:B8A4S4 InterPro 1408
UniProtKB:A0A8M6YXV6 InterPro 1413
UniProtKB:A0A8M2B6Z2 InterPro 1414
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 1
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA col17a1a-201 (1) Ensembl 4,745 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-281G13ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCOL17A110
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
MouseCol17a119
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
Citations
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