ZFIN ID: ZDB-GENE-030131-4400
Gene Name: collagen, type I, alpha 1b
Gene Symbol: col1a1b    Nomenclature History

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Previous Names: col1a3, alpha3(I) (1), fj59a10, hm:zeh0348, wu:fa95h05, wu:fd02a10, wu:fj59a10

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 12 Mapping Details/Browsers
Description: Predicted to have extracellular matrix structural constituent. Involved in skeletal system development. Predicted to localize to collagen type III trimer and extracellular space. Used to study osteogenesis imperfecta. Human ortholog(s) of this gene implicated in several diseases, including beta thalassemia; bone disease (multiple); cutaneous leishmaniasis; dermatofibrosarcoma protuberans; and tooth disease (multiple). Is expressed in several structures, including integument; liver; myoseptum; osteoblast; and tendon. Orthologous to human COL1A1 (collagen type I alpha 1 chain).
Genome Resources: Alliance (1),  Gene:325675 (1),  Ensembl(GRCz11):ENSDARG00000035809 (2)
GENE EXPRESSION
All Expression Data: 16 figures from 7 publications
Directly Submitted Expression Data: 7 figures (11 images) from Thisse et al., 2004 [MGC:77441]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Adult (90d-730d, breeding adult)
 
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
dmh29 Point Mutation Unknown Nonsynonymous ENU
sa12931 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa41934 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa45443 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • DISEASE ASSOCIATED WITH col1a1b HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Caffey disease Alliance Caffey disease 114000
    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
    osteogenesis imperfecta type 4 Alliance Osteogenesis imperfecta, type IV 166220
    osteoporosis Alliance {Bone mineral density variation QTL, osteoporosis} 166710
    Ehlers-Danlos syndrome, arthrochalasia type, 1 130060
    DISEASE ASSOCIATED WITH col1a1b VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    osteogenesis imperfecta col1a1bdmh29/+ standard conditions Gistelinck et al., 2018
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process skeletal system development (more)
    Cellular Component collagen trimer (more)
    Molecular Function extracellular matrix structural constituent (more)
    GO Terms (all 7)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA col1a1b-201 (1)    Ensembl 5610
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM col1a1b No data available
    MARKER RELATIONSHIPS
    col1a1b Contained in: [BAC] CH211-190L11 (1)
    col1a1b Encodes: [EST] fa95h05 (1), fj59a10 (1), zeh0348 (1)
    [cDNA] MGC:65877 (1), MGC:77441 (1)
    col1a1b Has Artifact: [EST] fd02a05, fd02a10
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_201478 (1) 5603 nt
    Genomic GenBank:BX548040 (1) 147855 nt
    Select Tool
    Polypeptide UniProtKB:F1QDL1 (1) 1449 aa
    Sequence Information (all 25)
    ORTHOLOGY for col1a1b ( Chr: 12 )
    CITATIONS (55)