Aliases for COL7A1 Gene
Aliases for COL7A1 Gene
External Ids for COL7A1 Gene
- HGNC: 2214
- Entrez Gene: 1294
- Ensembl: ENSG00000114270
- OMIM: 120120
- UniProtKB: Q02388
Previous HGNC Symbols for COL7A1 Gene
- EBDCT
- EBD1
- EBR1
Previous GeneCards Identifiers for COL7A1 Gene
- GC03M048391
- GC03M047884
- GC03M048562
- GC03M048576
- GC03M048602
Summaries for COL7A1 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]
GeneCards Summary for COL7A1 Gene
COL7A1 (Collagen Type VII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL7A1 include Epidermolysis Bullosa, Pretibial and Epidermolysis Bullosa Dystrophica, Ar. Among its related pathways are Collagen chain trimerization and Phospholipase-C Pathway. GO annotations related to this gene include identical protein binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is COL12A1.
UniProtKB/Swiss-Prot for COL7A1 Gene
-
Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL7A1 Gene
Genomics for COL7A1 Gene
Regulatory Elements for COL7A1 Gene
Enhancers for COL7A1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around COL7A1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the COL7A1 gene promoter:
Regulatory Element Products
Genomic Location for COL7A1 Gene
- Chromosome:
- 3
- Start:
- 48,564,073 bp from pter
- End:
- 48,595,302 bp from pter
- Size:
- 31,230 bases
- Orientation:
- Minus strand
Genomic View for COL7A1 Gene
Genes around COL7A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p21.31 by Ensembl
- 3p21.31 by Entrez Gene
- 3p21.31 by HGNC
COL7A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COL7A1 Gene
Proteins for COL7A1 Gene
-
Protein details for COL7A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q02388-CO7A1_HUMAN
- Recommended name:
- Collagen alpha-1(VII) chain
- Protein Accession:
- Q02388
- Q14054
- Q16507
Protein attributes for COL7A1 Gene
- Size:
- 2944 amino acids
- Molecular mass:
- 295220 Da
- Quaternary structure:
-
- Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent secretion.
- SequenceCaution:
-
- Sequence=BAA02853.1; Type=Frameshift; Positions=275, 282, 476, 494, 523, 541, 543; Evidence={ECO:0000305};
Protein Expression for COL7A1 Gene
Post-translational modifications for COL7A1 Gene
- Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
- Glycosylation at Asn337, posLast=786786, Asn1109, Lys2625, and posLast=26312631
- Modification sites at PhosphoSitePlus
Other Protein References for COL7A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore top COL7A1 Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for COL7A1
- Novus Biologicals Antibodies for COL7A1
-
Abcam antibodies for COL7A1
-
Cloud-Clone Corp. Antibodies for COL7A1
- Invitrogen Antibodies for COL7A1
- antibodies-online Antibodies for COL7A1: See all 7
- GeneTex COL7A1 antibody for COL7A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for COL7A1
Protein Products
-
OriGene Purified Proteins for COL7A1
- Search Origene for MassSpec and Protein Over-expression Lysates for COL7A1
- Origene Custom Protein Services for COL7A1
- Novus Biologicals proteins for COL7A1
-
Cloud-Clone Corp. Proteins for COL7A1
- Search GeneTex for Proteins for COL7A1
No data available for DME Specific Peptides for COL7A1 Gene
Domains & Families for COL7A1 Gene
Gene Families for COL7A1 Gene
Protein Domains for COL7A1 Gene
Suggested Antigen Peptide Sequences for COL7A1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for COL7A1 Gene
Function for COL7A1 Gene
Molecular function for COL7A1 Gene
- GENATLAS Biochemistry:
- collagen type VII,alpha 1,anchoring fibril
- UniProtKB/Swiss-Prot Function:
- Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004867 | serine-type endopeptidase inhibitor activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 19269366 |
| GO:0030414 | peptidase inhibitor activity | IEA | -- |
| GO:0042802 | identical protein binding | IEA | -- |
Phenotypes for COL7A1 Gene
- MGI mutant phenotypes for COL7A1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for COL7A1:
Animal Models for COL7A1 Gene
- MGI Knock Outs for COL7A1:
-
- Col7a1 tm1Uit
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL7A1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for COL7A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL7A1 gene
- Search ViGene Biosciences for COL7A1
CRISPR Products
-
OriGene CRISPR knockouts for COL7A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL7A1
- GenScript: Design CRISPR guide RNA sequences for COL7A1
miRNA for COL7A1 Gene
- miRTarBase miRNAs that target COL7A1
miRNA Products
- Search ViGene Biosciences for COL7A1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL7A1
- Browse OriGene Inhibitory RNA Products For COL7A1
-
ViGene Biosciences ready-to-package AAV shRNAs for COL7A1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for COL7A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL7A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for COL7A1
-
ViGene Biosciences adenoviral particle packaged cDNA for COL7A1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for COL7A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL7A1 gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-14089 VA6-14090) for COL7A1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL7A1 Gene
Localization for COL7A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL7A1 Gene
- Secreted, extracellular space, extracellular matrix, basement membrane.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 4 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005578 | proteinaceous extracellular matrix | IEA | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005590 | collagen type VII trimer | TAS | 9375848 |
Pathways & Interactions for COL7A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization | ||
| 2 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 3 | ERK Signaling |
.61
.58
|
.49
|
| 4 | Transport to the Golgi and subsequent modification | ||
| 5 | Phospholipase-C Pathway |
.56
|
|
Pathways by source for COL7A1 Gene
15 Reactome pathways for COL7A1 Gene
1 KEGG pathway for COL7A1 Gene
15 Qiagen pathways for COL7A1 Gene
Interacting Proteins for COL7A1 Gene
Selected Interacting proteins:
ENSP00000332371
Q02388-CO7A1_HUMAN
for COL7A1 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
| GO:0007155 | cell adhesion | IEA | -- |
| GO:0008544 | epidermis development | TAS | 8170945 |
| GO:0010466 | negative regulation of peptidase activity | IEA | -- |
| GO:0010951 | negative regulation of endopeptidase activity | IEA | -- |
No data available for SIGNOR curated interactions for COL7A1 Gene
Transcripts for COL7A1 Gene
mRNA/cDNA for COL7A1 Gene
- (7) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (139) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for COL7A1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for COL7A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL7A1
- GenScript: Design CRISPR guide RNA sequences for COL7A1
miRNA Products
- Search ViGene Biosciences for COL7A1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL7A1
- Browse OriGene Inhibitory RNA Products For COL7A1
-
ViGene Biosciences ready-to-package AAV shRNAs for COL7A1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for COL7A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL7A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-14089 VA6-14090) for COL7A1
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46 | ^ | 47 | ^ | 48 | ^ | 49 | ^ | 50a | · | 50b | ^ | 51 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 52 | ^ | 53 | ^ | 54 | ^ | 55a | · | 55b | ^ | 56a | · | 56b | ^ | 57a | · | 57b | ^ | 58 | ^ | 59 | ^ | 60 | ^ | 61a | · | 61b | ^ | 62a | · | 62b | ^ | 63a | · | 63b | · | 63c | · | 63d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | |||||||||||||||||||||||||||||||||||||
| SP9: |
Expression for COL7A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Dermis (Integumentary System)
- Dermal Fibroblasts Ventral Dermis
- Dermal Fibroblasts Cranial Dermis
- Dermal Fibroblasts Dorsal Dermis
-
Fibroblasts
- Dermal Fibroblasts Ventral Dermis
- Dermal Fibroblasts Cranial Dermis
- Dermal Fibroblasts Dorsal Dermis
-
Epithelial Cells
- Basal Keratinocytes Embryonic Epidermis
- Esophageal keratinocytes
- Epithelial cells (family)
-
Epidermis (Integumentary System)
- Basal Keratinocytes Embryonic Epidermis
- Keratinocytes-like cells(Guenou H et. al. 2009)
-
Brain (Nervous System)
- Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Endothelial Cells Blood Brain Barrier
-
Hair
- Basal Keratinocytes Embryonic Epidermis
- Esophagus
mRNA differential expression in normal tissues according to GTEx for COL7A1 Gene
This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x7.7), Skin - Sun Exposed (Lower leg) (x5.5), Vagina (x4.2), and Prostate (x4.1).
This gene is overexpressed in Esophagus (16.3), Thyroid (11.1), Islet of Langerhans (8.3), Prostate (7.3), and Cervix (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL7A1 Gene
NURSA nuclear receptor signaling pathways regulating expression of COL7A1 Gene:
COL7A1SOURCE GeneReport for Unigene cluster for COL7A1 Gene:
Hs.476218Evidence on tissue expression from TISSUES for COL7A1 Gene
- Skin(4.7)
Phenotype-based relationships between genes and organs from Gene ORGANizer for COL7A1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- ear
- eye
- face
- head
- inner ear
- jaw
- lip
- mandible
- maxilla
- middle ear
- mouth
- neck
- outer ear
- pharynx
- skull
- tongue
- tooth
Thorax:
- chest wall
- clavicle
- esophagus
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
Abdomen:
- intestine
- large intestine
- stomach
Pelvis:
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- uterus
- vagina
- vas deferens
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- red blood cell
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for COL7A1
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for COL7A1 Gene
Orthologs for COL7A1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COL7A1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | COL7A1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | COL7A1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Col7a1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Col7a1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | COL7A1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | COL7A1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COL7A1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | COL7A1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | col7a1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | col7a1 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | vkg 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | emb-9 35 |
|
ManyToMany | |
| let-2 35 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10972 35 |
|
ManyToMany | |
| CSA.6298 35 |
|
ManyToMany |
- Species where no ortholog for COL7A1 was found in the sources mined by GeneCards:
-
- 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)
- 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)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
- wheat (Triticum aestivum)
Paralogs for COL7A1 Gene
Paralogs for COL7A1 Gene
(18) SIMAP similar genes for COL7A1 Gene using alignment to 4 proteins:
Variants for COL7A1 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121912828 | Pathogenic, Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) [MIM:226600] | 48,566,281(-) | AGAGA(A/T)GAGTC | nc-transcript-variant, reference, missense | |
| rs121912829 | Pathogenic, Epidermolysis bullosa dystrophica, Pasini type (P-DEB) [MIM:131750] | 48,575,401(-) | AGCCT(A/G)GTATT | nc-transcript-variant, reference, missense | |
| rs121912831 | Pathogenic, Epidermolysis bullosa dystrophica, pretibial type (PR-DEB) [MIM:131850] | 48,568,098(-) | CCCGG(G/T)GCCTC | nc-transcript-variant, downstream-variant-500B, reference, missense | |
| rs121912832 | Pathogenic, Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] | 48,575,512(-) | AACGC(A/G)GGCTG | nc-transcript-variant, reference, missense | |
| rs121912833 | Pathogenic, Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] | 48,584,742(-) | CAAAG(C/G/T)GGGAG | nc-transcript-variant, reference, missense |
Residual Variation Intolerance Score:
80.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.82;
73.83% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for COL7A1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL7A1 Gene
Disorders for COL7A1 Gene
(25) MalaCards diseases for COL7A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epidermolysis bullosa, pretibial |
|
|
| epidermolysis bullosa dystrophica, ar |
|
|
| transient bullous of the newborn |
|
|
| epidermolysis bullosa dystrophica, ad |
|
|
| toenail dystrophy, isolated |
|
|
Search COL7A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CO7A1_HUMAN- Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]: A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. {ECO:0000269 PubMed:10084325, ECO:0000269 PubMed:10232406, ECO:0000269 PubMed:10232407, ECO:0000269 PubMed:10232408, ECO:0000269 PubMed:10836608, ECO:0000269 PubMed:11142768, ECO:0000269 PubMed:20598510, ECO:0000269 PubMed:7861014, ECO:0000269 PubMed:9215684, ECO:0000269 PubMed:9668111, ECO:0000269 PubMed:9740253, ECO:0000269 PubMed:9856843}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]: A group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata. {ECO:0000269 PubMed:10084325, ECO:0000269 PubMed:10620140, ECO:0000269 PubMed:11167698, ECO:0000269 PubMed:20598510, ECO:0000269 PubMed:8618018, ECO:0000269 PubMed:8757758, ECO:0000269 PubMed:9215684, ECO:0000269 PubMed:9444387, ECO:0000269 PubMed:9740253, ECO:0000269 PubMed:9804332}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Epidermolysis bullosa dystrophica, Bart type (B-DEB) [MIM:132000]: An autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) [MIM:226600]: The most severe recessive form of dystrophic epidermolysis bullosa. It manifests with mutilating scarring, joint contractures, corneal erosions, esophagus structures, and propensity to formation of cutaneous squamous cell carcinomas leading to premature demise of the affected individuals. {ECO:0000269 PubMed:10084325, ECO:0000269 PubMed:8513326, ECO:0000269 PubMed:8592061, ECO:0000269 PubMed:9326325, ECO:0000269 PubMed:9740253}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Epidermolysis bullosa dystrophica, Pasini type (P-DEB) [MIM:131750]: A severe, dominantly inherited form of dystrophic epidermolysis bullosa characterized by albopapuloid Pasini papule, dorsal extremity blistering, milia formation and red atrophic scarring after recurrent blisters. {ECO:0000269 PubMed:10233777, ECO:0000269 PubMed:8170945}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Epidermolysis bullosa dystrophica, pretibial type (PR-DEB) [MIM:131850]: A form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant. {ECO:0000269 PubMed:8541842}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC) [MIM:131750]: A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa. {ECO:0000269 PubMed:11874498, ECO:0000269 PubMed:2653224}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]: A distinct clinical subtype of epidermolysis bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade of life. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:10383749, ECO:0000269 PubMed:11142768}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Nail disorder, non-syndromic congenital, 8 (NDNC8) [MIM:607523]: A nail disorder characterized by isolated toenail dystrophy. The nail changes are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge. {ECO:0000269 PubMed:11843659}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=Epidermolysis bullosa acquisita (EBA) is an autoimmune acquired blistering skin disease resulting from autoantibodies to type VII collagen.
- Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]: TBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within the first months and years of life. {ECO:0000269 PubMed:9856844}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for COL7A1
No data available for Genatlas for COL7A1 Gene
Publications for COL7A1 Gene
- Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort. (PMID: 19681861) Kern J.S. … Has C. (Br. J. Dermatol. 2009) 3 22 46 64
- High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. (PMID: 15888141) CsikA^s M. … Bruckner-Tuderman L. (Br. J. Dermatol. 2005) 3 22 46 64
- A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. (PMID: 10836608) Lee J.Y.-Y. … Uitto J. (Arch. Dermatol. Res. 2000) 3 4 22 64
- Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. (PMID: 11142768) Murata T. … Nishikawa T. (Arch. Dermatol. Res. 2000) 3 4 22 64
- Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study. (PMID: 10232408) Christiano A.M. … Uitto J. (Exp. Dermatol. 1999) 3 4 22 64
Products for COL7A1 Gene
- Browse Small Molecules at EMD Millipore
- EMD Millipore top COL7A1 Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for COL7A1
- Browse Purified and Recombinant Proteins at EMD Millipore
- Browse Kits and Assays available from EMD Millipore
- EMD Millipore genomic analysis products
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for COL7A1
- Search Origene for MassSpec and Protein Over-expression Lysates for COL7A1
- Origene Custom Protein Services for COL7A1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL7A1
- Browse OriGene Inhibitory RNA Products For COL7A1
- OriGene qPCR primer pairs for COL7A1
- OriGene CRISPR knockouts for COL7A1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For COL7A1
- GenScript: Next-day shipping cDNA ORF clone for COL7A1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for COL7A1
- GenScript Custom Assay Services for COL7A1
- GenScript Custom overexpressing Cell Line Services for COL7A1
- GenScript: Design CRISPR guide RNA sequences for COL7A1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for COL7A1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for COL7A1
- Novus Biologicals proteins for COL7A1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for COL7A1
- Cloud-Clone Corp. Proteins for COL7A1
- Cloud-Clone Corp Assay Kits for COL7A1
- Invitrogen Antibodies for COL7A1
- antibodies-online Antibodies for COL7A1: See all 7
- antibodies-online Kits for COL7A1: See all 10
- Search antibodies-online for proteins
- Search antibodies-online for peptides
- GeneTex COL7A1 antibody for COL7A1
- Search GeneTex for Proteins for COL7A1
- ViGene Biosciences adenoviral particle packaged cDNA for COL7A1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for COL7A1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for COL7A1 gene
- Search ViGene Biosciences for COL7A1
- Santa Cruz Biotechnology (SCBT) Antibodies for COL7A1
- Search Santa Cruz Biotechnology (SCBT) for COL7A1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for COL7A1
- Horizon Cell Lines for COL7A1
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL7A1
- VectorBuilder custom plasmid, inducible vectors for COL7A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL7A1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for COL7A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer