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    bli-1 Cuticle collagen bli-1 [ Caenorhabditis elegans ]

    Gene ID: 174653, updated on 27-Dec-2024

    Summary

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    Official Symbol
    bli-1
    Official Full Name
    Cuticle collagen bli-1
    Primary source
    WormBase:WBGene00000251
    Locus tag
    CELE_C09G5.6
    See related
    AllianceGenome:WB:WBGene00000251
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Predicted to be a structural constituent of collagen and cuticulin-based cuticle. Involved in cuticle development involved in collagen and cuticulin-based cuticle molting cycle. Located in medial layer of collagen and cuticulin-based cuticle extracellular matrix. Is expressed in cuticle; hyp7 syncytium; and seam cell. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 6; and osteochondrodysplasia. Orthologous to human COL9A1 (collagen type IX alpha 1 chain) and COL27A1 (collagen type XXVII alpha 1 chain). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See bli-1 in Genome Data Viewer
    Location:
    chromosome: II
    Exon count:
    5
    Sequence:
    Chromosome: II; NC_003280.10 (10708960..10712156)

    Chromosome II - NC_003280.10Genomic Context describing neighboring genes Neighboring gene 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 Neighboring gene Cuticle collagen 39 Neighboring gene Putative cuticle collagen 80 Neighboring gene Uncharacterized protein Neighboring gene ncRNA Neighboring gene ncRNA

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003280.10

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Immunocytochemical and freeze-fracture characterization of the Caenorhabditis elegans DR 847 bli-1(n361) mutant which produces abnormal cuticle blisters. de Melo JV, et al. Cell Tissue Res, 2003 May. PMID 12698356
    2. Ultrastructural analyses of the Caenorhabditis elegans DR 847 bli-1(n361) mutant which produces abnormal cuticle blisters. De Melo JV, et al. J Submicrosc Cytol Pathol, 2002 Jul. PMID 12408362
    3. The Caenorhabditis elegans cuticle plays an important role against toxicity to bisphenol A and bisphenol S. Kucharíková S, et al. Toxicol Rep, 2023. PMID 36923443, Free PMC Article
    4. Dysregulation of let-7 by PEG modified graphene oxide in nematodes with deficit in epidermal barrier. Zhao L, et al. Ecotoxicol Environ Saf, 2019 Mar. PMID 30412893
    5. Chemotaxis by the nematode Caenorhabditis elegans: identification of attractants and analysis of the response by use of mutants. Ward S. Proc Natl Acad Sci U S A, 1973 Mar. PMID 4351805, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the abnormal cuticle blisters is due to an altered function of bli-1 gene, which is probably enzymatic
      Title: Immunocytochemical and freeze-fracture characterization of the Caenorhabditis elegans DR 847 bli-1(n361) mutant which produces abnormal cuticle blisters.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables structural constituent of collagen and cuticulin-based cuticle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables structural constituent of cuticle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in collagen and cuticulin-based cuticle development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cuticle development involved in collagen and cuticulin-based cuticle molting cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in medial layer of collagen and cuticulin-based cuticle extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Cuticle collagen bli-1
    NP_496311.2
    • Confirmed by transcript evidence

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NC_003280.10 Reference assembly

      Range
      10708960..10712156
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_063910.8 → NP_496311.2  Cuticle collagen bli-1 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_496311.2

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q09457
      Conserved Domains (3) summary
      pfam01391
      Location:426 → 483
      Collagen; Collagen triple helix repeat (20 copies)
      smart01088
      Location:20 → 58
      Col_cuticle_N; Nematode cuticle collagen N-terminal domain
      pfam08175
      Location:781 → 830
      SspO; Small acid-soluble spore protein O family
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q09457.2

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