Gene

col1a1b

ID
ZDB-GENE-030131-4400
Name
collagen, type I, alpha 1b
Symbol
col1a1b Nomenclature History
Previous Names
  • col1a3
  • alpha3(I) (1)
  • fj59a10
  • hm:zeh0348
  • wu:fa95h05
  • wu:fd02a10
  • wu:fj59a10
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within skeletal system development. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in cytoplasm and extracellular matrix. Is expressed in several structures, including corneal epithelium; integument; muscle; osteoblast; and trunk. Used to study osteogenesis imperfecta. Human ortholog(s) of this gene implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; aggressive periodontitis; bone disease (multiple); cutaneous leishmaniasis; and dentinogenesis imperfecta. Orthologous to human COL1A1 (collagen type I alpha 1 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
28 figures from 18 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
dmh29Allele with one point mutationUnknownNonsynonymousENU
sa12931Allele with one point mutationUnknownPremature StopENU
sa41934Allele with one point mutationUnknownPremature StopENU
sa45443Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
No data available
Human Disease
Associated With col1a1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Caffey disease Alliance Caffey disease 114000
Ehlers-Danlos syndrome arthrochalasia type 1 Alliance Ehlers-Danlos syndrome, arthrochalasia type, 1 130060
osteogenesis imperfecta type 1 Alliance Osteogenesis imperfecta, type I 166200
osteogenesis imperfecta type 2 Alliance Osteogenesis imperfecta, type II 166210
osteogenesis imperfecta type 3 Alliance Osteogenesis imperfecta, type III 259420
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Associated With col1a1b Via Experimental Models
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Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000885 Fibrillar collagen, C-terminal
Domain IPR001007 VWFC domain
Family IPR050149 Collagen superfamily
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 superfamily Collagen triple helix repeat Fibrillar collagen, C-terminal VWFC domain
UniProtKB:A0A8M2B227 InterPro 1448
UniProtKB:Q6PEI9 InterPro 1449
UniProtKB:A0A8M2B1Z3 InterPro 1395
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 12
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA col1a1b-201 (1) Ensembl 5,610 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
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCOL1A117
Amino acid sequence comparison (4)
Conserved genome location (synteny) (3)
MouseCol1a111
Amino acid sequence comparison (2)
Conserved genome location (synteny) (2)
Citations
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