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Aliases for COL17A1 Gene

Aliases for COL17A1 Gene

  • Collagen, Type XVII, Alpha 1 2 3
  • BPAG2 3 4 6
  • 180 KDa Bullous Pemphigoid Antigen 2 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
  • Collagen Alpha-1(XVII) Chain 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

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 epidermolysis bullosa, junctional, non-herlitz type and col17a1-related junctional epidermolysis bullosa. Among its related pathways are ERK Signaling and ERK Signaling. An important paralog of this gene is SCARA3.

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

Genomic Location for COL17A1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Thr1284 and Asn1421
  • Modification sites at PhosphoSitePlus

Other Protein References for COL17A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COL17A1 Gene

Domains for COL17A1 Gene

Gene Families for COL17A1 Gene

HGNC:

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

Gene Ontology (GO) - Molecular Function for COL17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12482924
genes like me logo Genes that share ontologies with COL17A1: view
genes like me logo Genes that share phenotypes with COL17A1: view

Animal Models for COL17A1 Gene

MGI Knock Outs for COL17A1:

Animal Model Products

CRISPR Products

miRNA for COL17A1 Gene

miRTarBase miRNAs that target COL17A1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
endoplasmic reticulum 4
plasma membrane 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:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005604 basement membrane IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with COL17A1: view

Pathways 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:0030198 extracellular matrix organization TAS --
GO:0030574 collagen catabolic process TAS --
genes like me logo Genes that share ontologies with COL17A1: view

Compounds for COL17A1 Gene

(11) Novoseek inferred chemical compound relationships for COL17A1 Gene

Compound -log(P) Hits PubMed IDs
batimastat 42.3 2
calcium 1.28 2
nacl 0 1
phenylalanine 0 1
sucrose 0 1
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL17A1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for COL17A1

Flow Cytometry Products

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) (17.9), Skin - Sun Exposed (Lower leg) (15.3), and Esophagus - Mucosa (4.0).

Integrated Proteomics: protein expression 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: 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 expressions with COL17A1: view

In Situ Assay Products

Orthologs for COL17A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL17A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL17A1 35
  • 99 (n)
  • 98.53 (a)
COL17A1 36
  • 99 (a)
OneToOne
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
mouse
(Mus musculus)
Mammalia Col17a1 16
Col17a1 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
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

Selected 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 MAF
rs9425 -- 104,031,597(-) TGTCC(A/G)TAGGC utr-variant-3-prime
rs526190 -- 104,087,340(+) ATTCA(A/T)GAATT upstream-variant-2KB
rs582661 -- 104,085,469(+) TCTTG(C/T)CTCTA intron-variant
rs647481 -- 104,083,022(+) CCAAT(A/G)TCTGT intron-variant
rs674311 -- 104,084,134(+) AGGTG(A/G)GATAG intron-variant

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

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

(1) OMIM Diseases for COL17A1 Gene (113811)

UniProtKB/Swiss-Prot

COHA1_HUMAN
  • 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.

(27) Novoseek inferred disease relationships for COL17A1 Gene

Disease -log(P) Hits PubMed IDs
gabeb 97.7 59
pemphigoid bullous 97.7 162
epidermolysis bullosa junctional 94.7 32
herpes gestationis 92.3 15
pemphigoid cicatricial 90.1 19

Relevant External Links for COL17A1

GeneTests
COL17A1
GeneReviews
COL17A1
Genetic Association Database (GAD)
COL17A1
Human Genome Epidemiology (HuGE) Navigator
COL17A1
genes like me logo Genes that share disorders with COL17A1: view

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
  2. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. (PMID: 9012408) Gatalica B. … Uitto J. (Am. J. Hum. Genet. 1997) 3 4 23
  3. Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. (PMID: 9199555) Schumann H. … Bruckner-Tuderman L. (Am. J. Hum. Genet. 1997) 3 4 23
  4. Genomic organization of collagenous domains and chromosomal assignment of human 180-kDa bullous pemphigoid antigen-2, a novel collagen of stratified squamous epithelium. (PMID: 1748679) Li K.H. … Uitto J. (J. Biol. Chem. 1991) 3 4 23
  5. A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. (PMID: 11912005) Wu Y. … Zhu X. (J. Dermatol. Sci. 2002) 3 4 23

Products for COL17A1 Gene

  • antibodies-online peptides for COL17A1
  • antibodies-online antibodies for COL17A1
  • antibodies-online kits for COL17A1

Sources for COL17A1 Gene

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