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

    Gene ID: 12821, updated on 2-Nov-2024

    Summary

    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 enable heparin binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. 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; junctional epidermolysis bullosa; and junctional epidermolysis bullosa non-Herlitz type. Human ortholog(s) of this gene implicated in epithelial recurrent erosion dystrophy and junctional epidermolysis bullosa. Orthologous to human COL17A1 (collagen type XVII alpha 1 chain). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in limb E14.5 (RPKM 10.4), mammary gland adult (RPKM 7.6) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Col17a1 in Genome Data Viewer
    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

    Expression

    • Project title: Mouse ENCODE transcriptome data 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Markers

    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
     
    involved_in hemidesmosome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    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

    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)

    NEW Try the new Transcript table

    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_001290825.2NP_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:705763
      Collagen; Collagen triple helix repeat (20 copies)
    2. NM_007732.3NP_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:705763
      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)