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    Col17a1 collagen, type XVII, alpha 1 [ Mus musculus (house mouse) ]

    Gene ID: 12821, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Col17a1provided by MGI
    Official Full Name
    collagen, type XVII, alpha 1provided by MGI
    Primary source
    MGI:MGI:88450
    See related
    Ensembl:ENSMUSG00000025064 AllianceGenome:MGI:88450
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Bpag; BP180; Bpag2
    Summary
    Predicted to be an extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization and hemidesmosome assembly. Located in hemidesmosome. Is expressed in several structures, including esophagus; genitourinary system; oral epithelium; sensory organ; and skin. Used to study bullous pemphigoid and junctional epidermolysis bullosa non-Herlitz type. Human ortholog(s) of this gene implicated in epithelial recurrent erosion dystrophy; junctional epidermolysis bullosa; and junctional epidermolysis bullosa non-Herlitz type. Orthologous to human COL17A1 (collagen type XVII alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in limb E14.5 (RPKM 10.4), mammary gland adult (RPKM 7.6) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    19 D1; 19 40.07 cM
    Exon count:
    54
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (47634783..47680460, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (47646341..47692042, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene STN1, CST complex subunit Neighboring gene predicted gene, 19557 Neighboring gene STARR-positive B cell enhancer ABC_E5709 Neighboring gene STARR-seq mESC enhancer starr_46366 Neighboring gene STE20-like kinase Neighboring gene predicted gene 16068 Neighboring gene STARR-seq mESC enhancer starr_46367 Neighboring gene predicted gene, 26085 Neighboring gene predicted gene, 24805

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Non-Cell-Autonomous Activity of the Hemidesmosomal Protein BP180/Collagen XVII in Granulopoiesis in Humanized NC16A Mice. Lin L, et al. J Immunol, 2020 Nov 15. PMID 32998984, Free PMC Article
    2. Expression of anti-aging type-XVII collagen (COL17A1/BP180) in hair follicle-associated pluripotent (HAP) stem cells during differentiation. Shirai K, et al. Tissue Cell, 2019 Aug. PMID 31383286
    3. Deletion of the major bullous pemphigoid epitope region of collagen XVII induces blistering, autoimmunization, and itching in mice. Hurskainen T, et al. J Invest Dermatol, 2015 May. PMID 25310407
    4. Noncollagenous 16A domain of type XVII collagen-reactive CD4+ T cells play a pivotal role in the development of active disease in experimental bullous pemphigoid model. Ujiie H, et al. Clin Immunol, 2012 Feb. PMID 22044750
    5. Human IgG1 monoclonal antibody against human collagen 17 noncollagenous 16A domain induces blisters via complement activation in experimental bullous pemphigoid model. Li Q, et al. J Immunol, 2010 Dec 15. PMID 21076071

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NEIL1 drives the initiation of colorectal cancer through transcriptional regulation of COL17A1.
      Title: NEIL1 drives the initiation of colorectal cancer through transcriptional regulation of COL17A1.
    2. Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice.
      Title: Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice.
    3. This study provides the first direct evidence that BP180, a cell-cell matrix adhesion molecule, possesses antitumor function through modulating infiltration of myeloid derived suppressor cells.
      Title: The dysfunction of BP180/collagen XVII in keratinocytes promotes melanoma progression.
    4. These results suggest that COL17A1 is important in differentiation of HAP stem cells.
      Title: Expression of anti-aging type-XVII collagen (COL17A1/BP180) in hair follicle-associated pluripotent (HAP) stem cells during differentiation.
    5. Here, the authors show that COL17 plays a central role in regulating interfollicular epidermis (IFE) proliferation. Loss of COL17 leads to transient IFE hypertrophy in neonatal mice owing to aberrant Wnt signaling.
      Title: Type XVII collagen coordinates proliferation in the interfollicular epidermis.
    6. The aging process can be recapitulated by Col17a1 deficiency and prevented by the forced maintenance of COL17A1 in hair follicle stem cell (HFSCs), demonstrating that COL17A1 in HFSCs orchestrates the stem cell-centric aging program of the epithelial mini-organ.
      Title: Hair follicle aging is driven by transepidermal elimination of stem cells via COL17A1 proteolysis.
    7. The deletion of the bullous pemphigoid epitope region of collagen XVII induces blistering, autoimmunization, and itching in a mouse disease model.
      Title: Deletion of the major bullous pemphigoid epitope region of collagen XVII induces blistering, autoimmunization, and itching in mice.
    8. Collagen XVII has a function in the attachment of podocyte foot processes to the glomerular basement membrane.
      Title: Transmembrane collagen XVII is a novel component of the glomerular filtration barrier.
    9. Through an unbiased genetic approach involving a combination of QTL mapping and positional cloning, we demonstrate that Col17a1 is a strong genetic modifier of the non-Herlitz JEB that develops in Lamc2(jeb) mice
      Title: Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.
    10. These results provide mechanistic evidence that ColXVII coordinates keratinocyte adhesion and directed motility by interfering integrin dependent PI3K activation and by stabilizing lamellipodia
      Title: Transmembrane collagen XVII modulates integrin dependent keratinocyte migration via PI3K/Rac1 signaling.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (5)  1 citation
    • Endonuclease-mediated (3) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent conferring tensile strength IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heparin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hemidesmosome assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in basement membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in hemidesmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in hemidesmosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in hemidesmosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    collagen alpha-1(XVII) chain
    Names
    180 kDa bullous pemphigoid antigen 2
    bullous pemphigoid antigen 2
    procollagen, type XVII, alpha 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001290825.2 → NP_001277754.1  collagen alpha-1(XVII) chain isoform 1

      See identical proteins and their annotated locations for NP_001277754.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC125075, AC131719
      Consensus CDS
      CCDS70959.1
      UniProtKB/Swiss-Prot
      Q07563, Q08AT3, Q3UXX1, Q99LK8
      Related
      ENSMUSP00000026045.8, ENSMUST00000026045.14
      Conserved Domains (1) summary
      pfam01391
      Location:705 → 763
      Collagen; Collagen triple helix repeat (20 copies)

    2. NM_007732.3 → NP_031758.2  collagen alpha-1(XVII) chain isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC125075, AC131719
      Consensus CDS
      CCDS38018.1
      UniProtKB/Swiss-Prot
      Q07563
      Related
      ENSMUSP00000084141.6, ENSMUST00000086923.6
      Conserved Domains (1) summary
      pfam01391
      Location:705 → 763
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      47634783..47680460 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q07563.3 GenPept UniProtKB/Swiss-Prot:Q07563

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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