Gene

col5a1

ID
ZDB-GENE-041105-6
Name
procollagen, type V, alpha 1
Symbol
col5a1 Nomenclature History
Previous Names
  • si:dkey-87m23.1
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix. Is expressed in several structures, including dermis; dermomyotome; head; neural crest; and notochord. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 1. Orthologous to human COL5A1 (collagen type V alpha 1 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
20 figures from 10 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
ca109Allele with one deletionExon 6UnknownCRISPR
la028380TgTransgenic insertionUnknownUnknownDNA
sa4934Allele with one point mutationUnknownSplice SiteENU
sa5957Allele with one point mutationUnknownSplice SiteENU
sa23852Allele with one point mutationUnknownSplice SiteENU
sa37227Allele with one point mutationUnknownPremature StopENU
sa37228Allele with one point mutationUnknownPremature StopENU
sa43580Allele with one point mutationUnknownSplice SiteENU
sa45726Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
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Human Disease
Associated With col5a1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Ehlers-Danlos syndrome classic type 1 Alliance Ehlers-Danlos syndrome, classic type, 1 130000
Fibromuscular dysplasia, multifocal 619329
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Associated With col5a1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000885 Fibrillar collagen, C-terminal
Domain IPR001791 Laminin G domain
Domain IPR048287 Thrombospondin-like, N-terminal domain
Family IPR050149 Collagen superfamily
Family IPR050938 Collagen and Collagen-like Structural Proteins
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Domain Details Per Protein
Protein Additional Resources Length Collagen and Collagen-like Structural Proteins Collagen superfamily Collagen triple helix repeat Concanavalin A-like lectin/glucanase domain superfamily Fibrillar collagen, C-terminal Laminin G domain Thrombospondin-like, N-terminal domain
UniProtKB:A0A8M9PIP9 InterPro 2024
UniProtKB:A0A8M9PD17 InterPro 2024
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 21
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA col5a1-201 (1) Ensembl 9,581 nt
mRNA col5a1-202 (1) Ensembl 4,662 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 inBACCH73-165E7ZFIN Curated Data
Contained inBACCH73-331J9ZFIN Curated Data
Contained inBACDKEY-87M23ZFIN Curated Data
Contained inFosmidCH1073-153C9ZFIN Curated Data
Has ArtifactESTfc69d06
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCOL5A19
Amino acid sequence comparison (2)
Conserved genome location (synteny) (2)
MouseCol5a12
Amino acid sequence comparison (1)
Citations
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