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Aliases for COL17A1 Gene

Aliases for COL17A1 Gene

  • Collagen Type XVII Alpha 1 2 3
  • Collagen, Type XVII, Alpha 1 2 3 5
  • 180 KDa Bullous Pemphigoid Antigen 2 3 4
  • BPAG2 3 4
  • BP180 3 4
  • BA16H23.2 (Collagen, Type XVII, Alpha 1 (BP180)) 3
  • Bullous Pemphigoid Antigen 2 (180kD) 3
  • Collagen XVII, Alpha-1 Polypeptide 3
  • Bullous Pemphigoid Antigen 2 4
  • Alpha 1 Type XVII Collagen 3
  • Type XVII Collagen Alpha-1 3
  • BA16H23.2 3
  • BPA-2 3
  • LAD-1 3
  • ERED 3

External Ids for COL17A1 Gene

Previous HGNC Symbols for COL17A1 Gene

  • BPAG2

Previous GeneCards Identifiers for COL17A1 Gene

  • GC10M104684
  • GC10M105024
  • GC10M105922
  • GC10M105455
  • GC10M105781
  • GC10M099422

Summaries for COL17A1 Gene

Entrez Gene Summary for COL17A1 Gene

  • This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]

GeneCards Summary for COL17A1 Gene

COL17A1 (Collagen Type XVII Alpha 1) is a Protein Coding gene. Diseases associated with COL17A1 include epithelial recurrent erosion dystrophy and epidermolysis bullosa, junctional, non-herlitz type. Among its related pathways are Degradation of the extracellular matrix and ERK Signaling. An important paralog of this gene is COL6A1.

UniProtKB/Swiss-Prot for COL17A1 Gene

  • May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.

  • The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.

Gene Wiki entry for COL17A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL17A1 Gene

Genomics for COL17A1 Gene

Regulatory Elements for COL17A1 Gene

Promoters for COL17A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COL17A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL17A1 Gene

Chromosome:
10
Start:
104,031,286 bp from pter
End:
104,086,002 bp from pter
Size:
54,717 bases
Orientation:
Minus strand

Genomic View for COL17A1 Gene

Genes around COL17A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL17A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL17A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL17A1 Gene

Proteins for COL17A1 Gene

  • Protein details for COL17A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMD9-COHA1_HUMAN
    Recommended name:
    Collagen alpha-1(XVII) chain
    Protein Accession:
    Q9UMD9
    Secondary Accessions:
    • Q02802
    • Q5JV36
    • Q99018
    • Q9NQK9
    • Q9UC14

    Protein attributes for COL17A1 Gene

    Size:
    1497 amino acids
    Molecular mass:
    150419 Da
    Quaternary structure:
    • Homotrimers of alpha 1(XVII)chains. Interacts (via cytoplasmic region) with ITGB4 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Interacts (via N-terminus) with PLEC. Interacts (via cytoplasmic region) with DSP.
    Miscellaneous:
    • Both the 120 kDa linear IgA disease antigen and the 97 kDa linear IgA disease antigen of COL17A1, represent major antigenic targets of autoantibodies in patients with linear IgA disease (LAD). LAD is a subepidermal blistering disorder characterized by tissue-bound and circulating IgA autoantibodies to the dermal-epidermal junction. These IgA autoantibodies preferentially react with 97 and the 120 kDa forms, but not with the full-length COL17A1, suggesting that the cleavage of the ectodomain generates novel autoantigenic epitopes.
    SequenceCaution:
    • Sequence=AAA35605.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH04478.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for COL17A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL17A1 Gene

Proteomics data for COL17A1 Gene at MOPED

Post-translational modifications for COL17A1 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • The ectodomain is shedded from the surface of keratinocytes resulting in a 120-kDa soluble form, also named as 120 kDa linear IgA disease antigen. The shedding is mediated by membrane-bound metalloproteases. This cleavage is inhibited by phosophorylation at Ser-544.
  • The intracellular/endo domain is disulfide-linked.
  • Glycosylation at Thr 1284 and Asn 1421
  • Modification sites at PhosphoSitePlus

Other Protein References for COL17A1 Gene

Antibody Products

No data available for DME Specific Peptides for COL17A1 Gene

Domains & Families for COL17A1 Gene

Gene Families for COL17A1 Gene

Protein Domains for COL17A1 Gene

Suggested Antigen Peptide Sequences for COL17A1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with COL17A1: view

No data available for UniProtKB/Swiss-Prot for COL17A1 Gene

Function for COL17A1 Gene

Molecular function for COL17A1 Gene

GENATLAS Biochemistry:
collagen type XVII,alpha 1,plasma membrane of keratinocytes
UniProtKB/Swiss-Prot Function:
May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.
UniProtKB/Swiss-Prot Function:
The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.
genes like me logo Genes that share phenotypes with COL17A1: view

Human Phenotype Ontology for COL17A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for COL17A1 Gene

miRTarBase miRNAs that target COL17A1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for COL17A1 Gene

Localization for COL17A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL17A1 Gene

Cell junction, hemidesmosome. Membrane; Single-pass type II membrane protein. Note=Localized along the plasma membrane of the hemidesmosome.
120 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Exclusively localized to anchoring filaments. Localized to the epidermal side of split skin.
97 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Localized in the lamina lucida beneath the hemidesmosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL17A1 Gene COMPARTMENTS Subcellular localization image for COL17A1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 4
cytosol 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COL17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005887 integral component of plasma membrane TAS 9012408
GO:0005911 cell-cell junction TAS 9012408
GO:0030056 hemidesmosome IDA 12482924
genes like me logo Genes that share ontologies with COL17A1: view

Pathways & Interactions for COL17A1 Gene

genes like me logo Genes that share pathways with COL17A1: view

Gene Ontology (GO) - Biological Process for COL17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion TAS 9012408
GO:0008544 epidermis development TAS 9012408
GO:0022617 extracellular matrix disassembly TAS --
GO:0031581 hemidesmosome assembly TAS --
genes like me logo Genes that share ontologies with COL17A1: view

No data available for SIGNOR curated interactions for COL17A1 Gene

Drugs & Compounds for COL17A1 Gene

(7) Drugs for COL17A1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for COL17A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL17A1: view

Transcripts for COL17A1 Gene

Unigene Clusters for COL17A1 Gene

Collagen, type XVII, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL17A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b · 31c ^ 32 ^ 33 ^ 34a · 34b ^ 35
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6: -
SP7:
SP8: -

Relevant External Links for COL17A1 Gene

GeneLoc Exon Structure for
COL17A1
ECgene alternative splicing isoforms for
COL17A1

Expression for COL17A1 Gene

mRNA expression in normal human tissues for COL17A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL17A1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x17.9), Skin - Sun Exposed (Lower leg) (x15.3), and Esophagus - Mucosa (x4.0).

Protein differential expression in normal tissues from HIPED for COL17A1 Gene

This gene is overexpressed in Retina (12.7), Skin (12.0), Pancreatic juice (11.7), Placenta (8.9), and Heart (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COL17A1 Gene



SOURCE GeneReport for Unigene cluster for COL17A1 Gene Hs.117938

mRNA Expression by UniProt/SwissProt for COL17A1 Gene

Q9UMD9-COHA1_HUMAN
Tissue specificity: Detected in skin (PubMed:8618013). In the cornea, it is detected in the epithelial basement membrane, the epithelial cells, and at a lower level in stromal cells (at protein level) (PubMed:25676728). Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa, esophagus, intestine, kidney collecting ducts, ureter, bladder, urethra and thymus but is absent in lung, blood vessels, skeletal muscle and nerves.
genes like me logo Genes that share expression patterns with COL17A1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for COL17A1 Gene

Orthologs for COL17A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL17A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COL17A1 35
  • 84.44 (n)
  • 84.58 (a)
COL17A1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL17A1 35
  • 85.64 (n)
  • 86.14 (a)
COL17A1 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COL17A1 35
  • 99 (n)
  • 98.53 (a)
COL17A1 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Col17a1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL17A1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL17A1 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL17A1 36
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii col17a1a 36
  • 43 (a)
OneToMany
col17a1b 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea col-10 36
  • 36 (a)
ManyToMany
col-118 36
  • 37 (a)
ManyToMany
col-126 36
  • 36 (a)
ManyToMany
col-127 36
  • 36 (a)
ManyToMany
col-144 36
  • 35 (a)
ManyToMany
col-145 36
  • 36 (a)
ManyToMany
col-148 36
  • 36 (a)
ManyToMany
col-149 36
  • 34 (a)
ManyToMany
col-150 36
  • 36 (a)
ManyToMany
col-176 36
  • 35 (a)
ManyToMany
col-177 36
  • 27 (a)
ManyToMany
col-187 36
  • 36 (a)
ManyToMany
col-61 36
  • 35 (a)
ManyToMany
col-89 36
  • 39 (a)
ManyToMany
Species with no ortholog for COL17A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for COL17A1 Gene

ENSEMBL:
Gene Tree for COL17A1 (if available)
TreeFam:
Gene Tree for COL17A1 (if available)

Paralogs for COL17A1 Gene

Paralogs for COL17A1 Gene

(8) SIMAP similar genes for COL17A1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with COL17A1: view

Variants for COL17A1 Gene

Sequence variations from dbSNP and Humsavar for COL17A1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs805708 - 104,064,575(+) GGATC(A/G)TTGCA reference, missense
rs1054113 - 104,064,511(-) TCCAT(C/G)GGGAC reference, missense
VAR_017595 -
VAR_017596 Generalized atrophic benign epidermolysis bullosa (GABEB)
rs805698 - 104,057,158(+) GCTGC(C/T)GTAGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COL17A1 Gene

Variant ID Type Subtype PubMed ID
nsv513017 CNV Insertion 21212237
esv2556771 CNV Insertion 19546169
esv2453005 CNV Deletion 19546169
esv1752212 CNV Insertion 17803354
esv1639508 CNV Insertion 17803354
nsv528782 CNV Loss 19592680
esv273538 CNV Insertion 20981092
esv269373 CNV Insertion 20981092
esv1658839 CNV Insertion 17803354

Variation tolerance for COL17A1 Gene

Residual Variation Intolerance Score: 86.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.04; 87.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL17A1 Gene

HapMap Linkage Disequilibrium report
COL17A1
Human Gene Mutation Database (HGMD)
COL17A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL17A1 Gene

Disorders for COL17A1 Gene

MalaCards: The human disease database

(36) MalaCards diseases for COL17A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epithelial recurrent erosion dystrophy
  • dystrophia helsinglandica
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa, junctional, localisata variant
generalized junctional epidermolysis bullosa, non-herlitz type
  • junctional epidermolysis bullosa
late-onset junctional epidermolysis bullosa
  • eb progressive
localized junctional epidermolysis bullosa, non-herlitz type
  • jeb-nh loc
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COHA1_HUMAN
  • Epithelial recurrent erosion dystrophy (ERED) [MIM:122400]: A corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks. {ECO:0000269 PubMed:25676728}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269 PubMed:10652291, ECO:0000269 PubMed:10951237, ECO:0000269 PubMed:11912005, ECO:0000269 PubMed:8669466, ECO:0000269 PubMed:9199555}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COL17A1

Genetic Association Database (GAD)
COL17A1
Human Genome Epidemiology (HuGE) Navigator
COL17A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL17A1
genes like me logo Genes that share disorders with COL17A1: view

No data available for Genatlas for COL17A1 Gene

Publications for COL17A1 Gene

  1. Cloning and primary structural analysis of the bullous pemphigoid autoantigen, BP180. (PMID: 1324962) Giudice G.J. … Diaz L.A. (J. Invest. Dermatol. 1992) 3 4 23 67
  2. Sequential intramolecular epitope spreading of humoral responses to human BPAG2 in a transgenic model. (PMID: 19812601) Di Zenzo G. … Yancey K.B. (J. Invest. Dermatol. 2010) 3 23
  3. Serum levels of IgE anti-BP180 and anti-BP230 autoantibodies in patients with bullous pemphigoid. (PMID: 17920818) Ishiura N. … Tamaki K. (J. Dermatol. Sci. 2008) 3 23
  4. 14-3-3 sigma isoform interacts with the cytoplasmic domain of the transmembrane BP180 in keratinocytes. (PMID: 17443672) Li Y. … Ghahary A. (J. Cell. Physiol. 2007) 3 23
  5. Human bullous pemphigoid antigen 2 transgenic skin elicits specific IgG in wild-type mice. (PMID: 17657247) Olasz E.B. … Yancey K.B. (J. Invest. Dermatol. 2007) 3 23

Products for COL17A1 Gene

Sources for COL17A1 Gene

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