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

Gene ID: 12821, updated on 5-Mar-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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