COL7A1

Protein identityUniProt · HPA

UniProt accession

Q02388

Gene

COL7A1

Ensembl

ENSG00000114270

Chromosome

3

Canonical length

2944 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins

Subcellular location

Endoplasmic reticulum,Vesicles

Secretome location

Secreted to extracellular matrix

Quaternary structure

Homotrimer

OverviewNCBI Gene

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

2944 residues, UniProt reviewed canonical sequence.

>Q02388|COL7A1
     1  MTLRLLVAAL CAGILAEAPR VRAQHRERVT CTRLYAADIV FLLDGSSSIG RSNFREVRSF
    61  LEGLVLPFSG AASAQGVRFA TVQYSDDPRT EFGLDALGSG GDVIRAIREL SYKGGNTRTG
   121  AAILHVADHV FLPQLARPGV PKVCILITDG KSQDLVDTAA QRLKGQGVKL FAVGIKNADP
   181  EELKRVASQP TSDFFFFVND FSILRTLLPL VSRRVCTTAG GVPVTRPPDD STSAPRDLVL
   241  SEPSSQSLRV QWTAASGPVT GYKVQYTPLT GLGQPLPSER QEVNVPAGET SVRLRGLRPL
   301  TEYQVTVIAL YANSIGEAVS GTARTTALEG PELTIQNTTA HSLLVAWRSV PGATGYRVTW
   361  RVLSGGPTQQ QELGPGQGSV LLRDLEPGTD YEVTVSTLFG RSVGPATSLM ARTDASVEQT
   421  LRPVILGPTS ILLSWNLVPE ARGYRLEWRR ETGLEPPQKV VLPSDVTRYQ LDGLQPGTEY
   481  RLTLYTLLEG HEVATPATVV PTGPELPVSP VTDLQATELP GQRVRVSWSP VPGATQYRII
   541  VRSTQGVERT LVLPGSQTAF DLDDVQAGLS YTVRVSARVG PREGSASVLT VRREPETPLA
   601  VPGLRVVVSD ATRVRVAWGP VPGASGFRIS WSTGSGPESS QTLPPDSTAT DITGLQPGTT
   661  YQVAVSVLRG REEGPAAVIV ARTDPLGPVR TVHVTQASSS SVTITWTRVP GATGYRVSWH
   721  SAHGPEKSQL VSGEATVAEL DGLEPDTEYT VHVRAHVAGV DGPPASVVVR TAPEPVGRVS
   781  RLQILNASSD VLRITWVGVT GATAYRLAWG RSEGGPMRHQ ILPGNTDSAE IRGLEGGVSY
   841  SVRVTALVGD REGTPVSIVV TTPPEAPPAL GTLHVVQRGE HSLRLRWEPV PRAQGFLLHW
   901  QPEGGQEQSR VLGPELSSYH LDGLEPATQY RVRLSVLGPA GEGPSAEVTA RTESPRVPSI
   961  ELRVVDTSID SVTLAWTPVS RASSYILSWR PLRGPGQEVP GSPQTLPGIS SSQRVTGLEP
  1021  GVSYIFSLTP VLDGVRGPEA SVTQTPVCPR GLADVVFLPH ATQDNAHRAE ATRRVLERLV
  1081  LALGPLGPQA VQVGLLSYSH RPSPLFPLNG SHDLGIILQR IRDMPYMDPS GNNLGTAVVT
  1141  AHRYMLAPDA PGRRQHVPGV MVLLVDEPLR GDIFSPIREA QASGLNVVML GMAGADPEQL
  1201  RRLAPGMDSV QTFFAVDDGP SLDQAVSGLA TALCQASFTT QPRPEPCPVY CPKGQKGEPG
  1261  EMGLRGQVGP PGDPGLPGRT GAPGPQGPPG SATAKGERGF PGADGRPGSP GRAGNPGTPG
  1321  APGLKGSPGL PGPRGDPGER GPRGPKGEPG APGQVIGGEG PGLPGRKGDP GPSGPPGPRG
  1381  PLGDPGPRGP PGLPGTAMKG DKGDRGERGP PGPGEGGIAP GEPGLPGLPG SPGPQGPVGP
  1441  PGKKGEKGDS EDGAPGLPGQ PGSPGEQGPR GPPGAIGPKG DRGFPGPLGE AGEKGERGPP
  1501  GPAGSRGLPG VAGRPGAKGP EGPPGPTGRQ GEKGEPGRPG DPAVVGPAVA GPKGEKGDVG
  1561  PAGPRGATGV QGERGPPGLV LPGDPGPKGD PGDRGPIGLT GRAGPPGDSG PPGEKGDPGR
  1621  PGPPGPVGPR GRDGEVGEKG DEGPPGDPGL PGKAGERGLR GAPGVRGPVG EKGDQGDPGE
  1681  DGRNGSPGSS GPKGDRGEPG PPGPPGRLVD TGPGAREKGE PGDRGQEGPR GPKGDPGLPG
  1741  APGERGIEGF RGPPGPQGDP GVRGPAGEKG DRGPPGLDGR SGLDGKPGAA GPSGPNGAAG
  1801  KAGDPGRDGL PGLRGEQGLP GPSGPPGLPG KPGEDGKPGL NGKNGEPGDP GEDGRKGEKG
  1861  DSGASGREGR DGPKGERGAP GILGPQGPPG LPGPVGPPGQ GFPGVPGGTG PKGDRGETGS
  1921  KGEQGLPGER GLRGEPGSVP NVDRLLETAG IKASALREIV ETWDESSGSF LPVPERRRGP
  1981  KGDSGEQGPP GKEGPIGFPG ERGLKGDRGD PGPQGPPGLA LGERGPPGPS GLAGEPGKPG
  2041  IPGLPGRAGG VGEAGRPGER GERGEKGERG EQGRDGPPGL PGTPGPPGPP GPKVSVDEPG
  2101  PGLSGEQGPP GLKGAKGEPG SNGDQGPKGD RGVPGIKGDR GEPGPRGQDG NPGLPGERGM
  2161  AGPEGKPGLQ GPRGPPGPVG GHGDPGPPGA PGLAGPAGPQ GPSGLKGEPG ETGPPGRGLT
  2221  GPTGAVGLPG PPGPSGLVGP QGSPGLPGQV GETGKPGAPG RDGASGKDGD RGSPGVPGSP
  2281  GLPGPVGPKG EPGPTGAPGQ AVVGLPGAKG EKGAPGGLAG DLVGEPGAKG DRGLPGPRGE
  2341  KGEAGRAGEP GDPGEDGQKG APGPKGFKGD PGVGVPGSPG PPGPPGVKGD LGLPGLPGAP
  2401  GVVGFPGQTG PRGEMGQPGP SGERGLAGPP GREGIPGPLG PPGPPGSVGP PGASGLKGDK
  2461  GDPGVGLPGP RGERGEPGIR GEDGRPGQEG PRGLTGPPGS RGERGEKGDV GSAGLKGDKG
  2521  DSAVILGPPG PRGAKGDMGE RGPRGLDGDK GPRGDNGDPG DKGSKGEPGD KGSAGLPGLR
  2581  GLLGPQGQPG AAGIPGDPGS PGKDGVPGIR GEKGDVGFMG PRGLKGERGV KGACGLDGEK
  2641  GDKGEAGPPG RPGLAGHKGE MGEPGVPGQS GAPGKEGLIG PKGDRGFDGQ PGPKGDQGEK
  2701  GERGTPGIGG FPGPSGNDGS AGPPGPPGSV GPRGPEGLQG QKGERGPPGE RVVGAPGVPG
  2761  APGERGEQGR PGPAGPRGEK GEAALTEDDI RGFVRQEMSQ HCACQGQFIA SGSRPLPSYA
  2821  ADTAGSQLHA VPVLRVSHAE EEERVPPEDD EYSEYSEYSV EEYQDPEAPW DSDDPCSLPL
  2881  DEGSCTAYTL RWYHRAVTGS TEACHPFVYG GCGGNANRFG TREACERRCP PRVVQSQGTG
  2941  TAQD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL7A1 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

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0

Highest tissue expression

93 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL7A1.

Disease | AllUniProt

Conditions COL7A1 is implicated in, by any mechanism.

• Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) MIM:131750
• Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) MIM:226600
• Transient bullous dermolysis of the newborn (TBDN) MIM:131705
• Epidermolysis bullosa dystrophica, pretibial type (PR-DEB) MIM:131850
• Epidermolysis bullosa dystrophica, Bart type (B-DEB) MIM:132000
• Epidermolysis bullosa pruriginosa (EBP) MIM:604129
• Nail disorder, non-syndromic congenital, 8 (NDNC8) MIM:607523
• Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC) MIM:131750

Disease | GeneticClinVar

1,086 pathogenic / likely-pathogenic of 6,307 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Epidermolysis bullosa dystrophica
• Recessive dystrophic epidermolysis bullosa
• 7 conditions
• COL7A1-related disorder
• Generalized dominant dystrophic epidermolysis bullosa

Disease | ImmuneIEDB

Conditions an epitope on COL7A1 was assayed in.

• epidermolysis bullosa acquisita B cell
• systemic lupus erythematosus B cell

Disease | AutoantibodyPubMed

Conditions in which antibodies against COL7A1 are reported. Each links to that disease's full target list.

• Blister 25
• Skin Diseases, Vesiculobullous 18
• Lupus Erythematosus, Systemic 16
• Pemphigoid, Bullous 16
• Crohn Disease 6
• Lupus Erythematosus, Cutaneous 5

Showing 6 of 11 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for COL7A1 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)

0.6

gnomAD pLI

0

gnomAD missense Z

1.59

DepMap mean gene effect

-0.04

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 adhesion
• endodermal cell differentiation
• epidermis development

Molecular functions

• extracellular matrix structural constituent conferring tensile strength
• serine-type endopeptidase inhibitor activity

Cellular components

• basement membrane
• COPII-coated ER to Golgi transport vesicle
• endoplasmic reticulum lumen
• endoplasmic reticulum-Golgi intermediate compartment membrane
• extracellular matrix
• extracellular region
• extracellular space
• collagen type VII trimer

Protein domainsUniProt · Pfam · InterPro

• von Willebrand factor, type A
• Pancreatic trypsin inhibitor Kunitz domain
• Fibronectin type III
• Collagen triple helix repeat
• Immunoglobulin-like fold
• Proteinase inhibitor I2, Kunitz, conserved site
• Fibronectin type III superfamily
• von Willebrand factor A-like domain superfamily
• Pancreatic trypsin inhibitor Kunitz domain superfamily
• Collagen and Collagen-like Structural Proteins
• Kunitz/Bovine pancreatic trypsin inhibitor domain
• Fibronectin type III domain
• von Willebrand factor type A domain
• Collagen triple helix repeat (20 copies)

KeywordsUniProt

• Basement membrane
• Cell adhesion
• Collagen
• Disulfide bond
• Epidermolysis bullosa
• Extracellular matrix
• Glycoprotein
• Hydroxylation
• Protease inhibitor
• Repeat
• Secreted
• Serine protease inhibitor
• Signal

InteractionsUniProt · HPA

Protein binding partners of COL7A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MIA3