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Gene · 1294

COL7A1: collagen type VII alpha 1 chain

12 sourcesgene-search-2026-11-11-0.2.0

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ConductScience Library. COL7A1: collagen type VII alpha 1 chain. Genes, record 1294. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/1294

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Gene

Symbol
COL7A1
HGNC
Name
collagen type VII alpha 1 chain
HGNC
NCBI Gene ID
1294
NCBI Gene
HGNC ID
HGNC:2214
HGNC
Ensembl
ENSG00000114270
NCBI Gene
Aliases
EBD1, EBDCT, EBR1, NDNC8
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
Q02388Collagen alpha-1(VII) chain2,9440Ensembl, GeneID, HGNC

Source UniProt

Patents147

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2026067851 A2026-04-21400Q02388Espacenet
EP 4705273 A22026-03-11490Q02388Espacenet
EP 4705273 A22026-03-11498Q02388Espacenet
JP 2026042028 A2026-03-1020Q02388Espacenet
JP 2026004289 A2026-01-142Q02388Espacenet
JP 2025185268 A2025-12-192Q02388Espacenet
EP 4650780 A22025-11-195963Q02388Espacenet
JP 2025169942 A2025-11-14917Q02388Espacenet
EP 4641201 A22025-10-295698Q02388Espacenet
JP 2025147176 A2025-10-063347Q02388Espacenet

1 to 10 of 147

See all 147 patents

Drugs1

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

DrugChEMBL IDMechanismAction
BEREMAGENE GEPERPAVECCHEMBL4594328Collagen alpha-1(VII) chain exogenous geneEXOGENOUS GENE

Source ChEMBL

Trials3

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

TrialDrugPhaseResults first postedSource
NCT04917874BEREMAGENE GEPERPAVECPHASE3ClinicalTrials.gov
NCT04491604BEREMAGENE GEPERPAVECPHASE32023-02-17ClinicalTrials.gov
NCT03536143BEREMAGENE GEPERPAVECPHASE1/PHASE22023-01-31ClinicalTrials.gov

NIH grants1,032

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleCOL7A1 papersNewest fiscal year
R01AR063070Skin-targeted Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa292025
P01CA065493Off-the-Shelf Immune Effector Cells for Hematological Malignancies82025
R01AR045192REGULATORS OF EPIDERMAL GENE EXPRESSION72025
R01EY025794ABCB5-positive stem cells for LSCD therapy62025
P30CA077598Cancer Center Support Grant52025
R13AR009431Montagna Symposium on the Biology of Skin52025
T32AR007465Penn Dermatology Research Training Program52025
P30AR069589Penn Skin Biology and Diseases Resource-based Center42025
P30EY025585NEI Center Core Grant for Vision Research42025
R01AR043799Mechanisms of Epidermal Homeostasis and Early Neoplasia42025

1 to 10 of 1,032Source NIH's project files

See all 1,032 nih grants

Papers2,575

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
Neonatal Skin Blistering and Denudement Caused by Epidermolysis Bullosa.Cureus202642699182PubTator, text miningPubMed
Epidermolysis Bullosa Classification and Current Approach to Diagnosis.Pediatr Dermatol202642696398PubTator, text miningPubMed
Targeting, Mutagenesis, and Functional Testing Strategies for Large Collagens.Methods Mol Biol202642681148PubTator, text miningPubMed
A PepFect14 analog improves non-viral CRISPR delivery in primary human cells to facilitate genome editing and repair.Bioeng Transl Med202642666741PubTator, text miningPubMed
Japanese intractable and rare dermatologic diseases: From the official skin-centered nanbyo core to an illustrative mechanism-based framework.Intractable Rare Dis Res202642643679PubTator, text miningPubMed
A variant of uncertain significance in COL7A1 in Bart syndrome: A case report.JAAD Case Rep202642603996PubTator, text miningPubMed
Molecular basis of collagen triple helix recognition by VWF A-like domain two of collagen VII: Implications for interlaced anchoring fibril formation.J Biol Chem202642595117PubTator, text miningPubMed
Integrative multi-omics analysis identifies SMIM24 as a favorable prognostic biomarker in clear cell renal cell carcinoma.Funct Integr Genomics202642587209PubTator, text miningPubMed
Topical gene therapy for severe recessive dystrophic epidermolysis bullosa: clinical outcomes and multidisciplinary management in three patients treated with beremagene geperpavec (B-VEC) in Italy - a case series.
Drugs Context202642578000PubTator, text miningPubMed
Gene Therapy for Dystrophic Epidermolysis Bullosa.Exp Dermatol202642568047PubTator, text miningPubMed

1 to 10 of 2,575

See all 2,575 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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