COL17A1

Protein identityUniProt · HPA

UniProt accession

Q9UMD9

Gene

COL17A1

Ensembl

ENSG00000065618

Chromosome

10

Canonical length

1497 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins

Subcellular location

Golgi apparatus,Plasma membrane

Secretome location

Secreted to extracellular matrix

Quaternary structure

Homotrimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1497 residues, UniProt reviewed canonical sequence.

>Q9UMD9|COL17A1
     1  MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS RLEKQSLTHG
    61  SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER KTHVTRHAYE GSSSGNSSPE
   121  YPRKEFASSS TRGRSQTRES EIRVRLQSAS PSTRWTELDD VKRLLKGSRS ASVSPTRNSS
   181  NTLPIPKKGT VETKIVTASS QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT
   241  QSSSLLNTNA YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT
   301  TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD NTPAKKEMEL
   361  LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS GLKAEANGDL KTVSTKGKTT
   421  TADIHSYGSS GGGGSGGGGG VGGAGGGPWG PAPAWCPCGS CCSWWKWLLG LLLTWLLLLG
   481  LLFGLIALAE EVRKLKARVD ELERIRRSIL PYGDSMDRIE KDRLQGMAPA AGADLDKIGL
   541  HSDSQEELWM FVRKKLMMEQ ENGNLRGSPG PKGDMGSPGP KGDRGFPGTP GIPGPLGHPG
   601  PQGPKGQKGS VGDPGMEGPM GQRGREGPMG PRGEAGPPGS GEKGERGAAG EPGPHGPPGV
   661  PGSVGPKGSS GSPGPQGPPG PVGLQGLRGE VGLPGVKGDK GPMGPPGPKG DQGEKGPRGL
   721  TGEPGMRGLP GAVGEPGAKG AMGPAGPDGH QGPRGEQGLT GMPGIRGPPG PSGDPGKPGL
   781  TGPQGPQGLP GTPGRPGIKG EPGAPGKIVT SEGSSMLTVP GPPGPPGAMG PPGPPGAPGP
   841  AGPAGLPGHQ EVLNLQGPPG PPGPRGPPGP SIPGPPGPRG PPGEGLPGPP GPPGSFLSNS
   901  ETFLSGPPGP PGPPGPKGDQ GPPGPRGHQG EQGLPGFSTS GSSSFGLNLQ GPPGPPGPQG
   961  PKGDKGDPGV PGALGIPSGP SEGGSSSTMY VSGPPGPPGP PGPPGSISSS GQEIQQYISE
  1021  YMQSDSIRSY LSGVQGPPGP PGPPGPVTTI TGETFDYSEL ASHVVSYLRT SGYGVSLFSS
  1081  SISSEDILAV LQRDDVRQYL RQYLMGPRGP PGPPGASGDG SLLSLDYAEL SSRILSYMSS
  1141  SGISIGLPGP PGPPGLPGTS YEELLSLLRG SEFRGIVGPP GPPGPPGIPG NVWSSISVED
  1201  LSSYLHTAGL SFIPGPPGPP GPPGPRGPPG VSGALATYAA ENSDSFRSEL ISYLTSPDVR
  1261  SFIVGPPGPP GPQGPPGDSR LLSTDASHSR GSSSSSHSSS VRRGSSYSSS MSTGGGGAGS
  1321  LGAGGAFGEA AGDRGPYGTD IGPGGGYGAA AEGGMYAGNG GLLGADFAGD LDYNELAVRV
  1381  SESMQRQGLL QGMAYTVQGP PGQPGPQGPP GISKVFSAYS NVTADLMDFF QTYGAIQGPP
  1441  GQKGEMGTPG PKGDRGPAGP PGHPGPPGPR GHKGEKGDKG DQVYAGRRRR RSIAVKP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL17A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.65

Highest tissue expression

548 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL17A1.

Disease | AllUniProt

Conditions COL17A1 is implicated in, by any mechanism.

• Epidermolysis bullosa, junctional 4, intermediate (JEB4) MIM:619787
• Epithelial recurrent erosion dystrophy (ERED) MIM:122400

Disease | GeneticClinVar

179 pathogenic / likely-pathogenic of 1,698 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Epidermolysis bullosa, junctional 4, intermediate
• Epithelial recurrent erosion dystrophy
• Junctional epidermolysis bullosa, non-Herlitz type
• Junctional epidermolysis bullosa
• Amelogenesis imperfecta type 1A

Disease | ImmuneIEDB

Conditions an epitope on COL17A1 was assayed in.

• bullous pemphigoid B and T cell
• pemphigoid gestationis B and T cell
• pemphigus B cell
• cicatricial pemphigoid B cell
• lichen planus B cell

Disease | AutoantibodyPubMed

Conditions in which antibodies against COL17A1 are reported. Each links to that disease's full target list.

• Pemphigoid, Bullous 323
• Blister 28
• Pemphigus 18
• Skin Diseases, Vesiculobullous 18
• Psoriasis 10
• Diabetes Mellitus, Type 2 8
• Alzheimer Disease 4
• Melanoma 4
• Urticaria 3

Showing 9 of 19 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for COL17A1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.75

gnomAD pLI

0

gnomAD missense Z

-0.75

DepMap mean gene effect

-0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell-matrix adhesion
• epidermis development
• hemidesmosome assembly

Molecular functions

• extracellular matrix structural constituent conferring tensile strength

Cellular components

• basement membrane
• cell-cell junction
• collagen trimer
• endoplasmic reticulum lumen
• extracellular matrix
• extracellular region
• hemidesmosome
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Collagen triple helix repeat
• Collagen superfamily
• Collagen triple helix repeat (20 copies)

KeywordsUniProt

• Basement membrane
• Cell junction
• Collagen
• Disulfide bond
• Epidermolysis bullosa
• Extracellular matrix
• Glycoprotein
• Hydroxylation
• Membrane
• Phosphoprotein
• Repeat
• Secreted
• Signal-anchor
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of COL17A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PLEC
• DSP