Details for: COL7A1

Gene ID: 1294

Symbol: COL7A1

Ensembl ID: ENSG00000114270

Description: collagen type VII alpha 1 chain

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 66.4758
    Cell Significance Index: -10.3400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 41.3179
    Cell Significance Index: -10.4800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 20.2913
    Cell Significance Index: -9.5800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 5.9378
    Cell Significance Index: 165.9400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.9758
    Cell Significance Index: -10.8900
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 4.8969
    Cell Significance Index: 11.0400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 3.0564
    Cell Significance Index: 41.7000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.6457
    Cell Significance Index: -10.4400
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 2.5824
    Cell Significance Index: 7.6800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.3494
    Cell Significance Index: 144.0400
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.3218
    Cell Significance Index: 20.6100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.0720
    Cell Significance Index: 29.1800
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.9325
    Cell Significance Index: 6.1900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6606
    Cell Significance Index: 292.0700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.6177
    Cell Significance Index: 177.7400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5969
    Cell Significance Index: 113.5900
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.4999
    Cell Significance Index: 8.0200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4492
    Cell Significance Index: 31.7700
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 0.4155
    Cell Significance Index: 3.5700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3864
    Cell Significance Index: 38.2300
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.3718
    Cell Significance Index: 3.1600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3667
    Cell Significance Index: 331.0900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3285
    Cell Significance Index: 25.2100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2147
    Cell Significance Index: 77.0300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1866
    Cell Significance Index: 30.3500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1405
    Cell Significance Index: 18.0100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1319
    Cell Significance Index: 26.4500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1249
    Cell Significance Index: 13.5900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1114
    Cell Significance Index: 15.3000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0623
    Cell Significance Index: 4.3100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0560
    Cell Significance Index: 2.5400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0538
    Cell Significance Index: 1.5500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0488
    Cell Significance Index: 1.4000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0477
    Cell Significance Index: 9.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0440
    Cell Significance Index: 5.4100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0421
    Cell Significance Index: 4.9100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0330
    Cell Significance Index: 1.1600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0258
    Cell Significance Index: 0.5600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0164
    Cell Significance Index: 0.8600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0163
    Cell Significance Index: 2.9300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0154
    Cell Significance Index: 0.9700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0087
    Cell Significance Index: 0.0900
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0052
    Cell Significance Index: 0.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0042
    Cell Significance Index: 1.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0016
    Cell Significance Index: 0.8700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0012
    Cell Significance Index: 1.9000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0004
    Cell Significance Index: -0.4800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0012
    Cell Significance Index: -2.2700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0032
    Cell Significance Index: -0.0800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0035
    Cell Significance Index: -6.3800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0119
    Cell Significance Index: -9.0000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0128
    Cell Significance Index: -9.3700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0129
    Cell Significance Index: -9.5700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0138
    Cell Significance Index: -8.7400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0172
    Cell Significance Index: -10.7300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0176
    Cell Significance Index: -9.9300
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.0195
    Cell Significance Index: -0.2700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0226
    Cell Significance Index: -0.2800
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0281
    Cell Significance Index: -0.4000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0344
    Cell Significance Index: -0.5700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0405
    Cell Significance Index: -2.4300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0508
    Cell Significance Index: -10.6900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0563
    Cell Significance Index: -9.6100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0578
    Cell Significance Index: -8.4000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0662
    Cell Significance Index: -2.1200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0721
    Cell Significance Index: -4.8500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0785
    Cell Significance Index: -10.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0835
    Cell Significance Index: -9.5700
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0842
    Cell Significance Index: -1.2600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0882
    Cell Significance Index: -4.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0919
    Cell Significance Index: -9.3900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0931
    Cell Significance Index: -10.9800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0933
    Cell Significance Index: -4.3500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0959
    Cell Significance Index: -9.9900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0977
    Cell Significance Index: -4.3200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1113
    Cell Significance Index: -3.9000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1153
    Cell Significance Index: -6.4700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1262
    Cell Significance Index: -4.7800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1277
    Cell Significance Index: -2.7100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1287
    Cell Significance Index: -10.1900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1292
    Cell Significance Index: -7.9400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1307
    Cell Significance Index: -1.9300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1322
    Cell Significance Index: -9.8500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1354
    Cell Significance Index: -2.0400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1366
    Cell Significance Index: -4.3500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1409
    Cell Significance Index: -3.7800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1423
    Cell Significance Index: -3.5500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1461
    Cell Significance Index: -3.2000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1466
    Cell Significance Index: -6.8900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1470
    Cell Significance Index: -3.0500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1555
    Cell Significance Index: -10.0300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1571
    Cell Significance Index: -2.2500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1619
    Cell Significance Index: -3.2500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1636
    Cell Significance Index: -5.6900
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1646
    Cell Significance Index: -7.1600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1877
    Cell Significance Index: -4.5800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1997
    Cell Significance Index: -10.0900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2015
    Cell Significance Index: -5.3800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2022
    Cell Significance Index: -5.7700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2084
    Cell Significance Index: -4.1200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The COL7A1 gene is a single-copy gene, with a single transcript and a single protein product. The encoded protein, collagen type VII alpha 1 chain, is a type VII collagen, which is distinct from other collagen types. Type VII collagen is a homotrimer, composed of three identical alpha-1 chains, and is characterized by its unique structure and function. The COL7A1 gene is highly expressed in various tissues, including the skin, lungs, and gut. The COL7A1 protein undergoes extensive post-translational modification, including glycosylation, cross-linking, and proteolytic processing, which are essential for its function. The protein is also subject to regulation by various signaling pathways, including the Notch and TGF-β pathways, which play critical roles in tissue development and homeostasis. **Pathways and Functions** The COL7A1 gene is involved in several key biological pathways, including: 1. **Anchoring fibril formation**: The COL7A1 protein is a critical component of anchoring fibrils, which provide structural integrity and adhesion to the extracellular matrix in various tissues. 2. **Asparagine n-linked glycosylation**: The COL7A1 protein undergoes extensive glycosylation, which is essential for its function and stability. 3. **Assembly of collagen fibrils and other multimeric structures**: The COL7A1 protein is involved in the assembly of collagen fibrils and other multimeric structures, which are critical for tissue integrity and homeostasis. 4. **Cell adhesion**: The COL7A1 protein plays a critical role in cell adhesion, particularly in the skin, where it helps to maintain the integrity of the epidermis and dermis. 5. **Collagen biosynthesis and modifying enzymes**: The COL7A1 gene is involved in the regulation of collagen biosynthesis and modifying enzymes, which are critical for the production and processing of collagen. **Clinical Significance** The COL7A1 gene has significant clinical implications, particularly in the context of genetic disorders. Mutations or alterations in this gene have been associated with several conditions, including: 1. **Dystrophic epidermolysis bullosa (DEB)**: DEB is a genetic disorder characterized by blistering and fragility of the skin, and is caused by mutations in the COL7A1 gene. 2. **Junctional epidermolysis bullosa (JEB)**: JEB is a genetic disorder characterized by blistering and fragility of the skin, and is caused by mutations in the COL7A1 gene. 3. **Other conditions**: The COL7A1 gene has also been implicated in other conditions, including epidermolysis bullosa simplex (EBS) and epidermolysis bullosa acquisita (EBA). In conclusion, the COL7A1 gene plays a critical role in maintaining tissue integrity and homeostasis, and its dysregulation can lead to several genetic disorders. Further research is necessary to fully understand the mechanisms by which the COL7A1 gene regulates tissue function and to develop effective therapeutic strategies for the treatment of genetic disorders associated with COL7A1 mutations.

Genular Protein ID: 367924138

Symbol: CO7A1_HUMAN

Name: Collagen alpha-1(VII) chain

UniProtKB Accession Codes:

Q02388 Q14054 Q16507

Database IDs:

ABCD 1 AGR 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 4 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 7 Ensembl 2 ExpressionAtlas 1 GO 14 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MEROPS 1 MIM 16 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 9 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 10 RefSeq 2 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8088784

Title: Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene.

PubMed ID: 8088784

DOI: 10.1006/geno.1994.1239

PubMed ID: 8051117

Title: Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms.

PubMed ID: 8051117

DOI: 10.1016/s0021-9258(17)31984-1

PubMed ID: 1307247

Title: The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor.

PubMed ID: 1307247

DOI: 10.1093/hmg/1.7.475

PubMed ID: 1567409

Title: Molecular cloning and characterization of type VII collagen cDNA.

PubMed ID: 1567409

DOI: 10.1016/s0006-291x(05)80283-9

PubMed ID: 1469284

Title: Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix.

PubMed ID: 1469284

DOI: 10.1111/1523-1747.ep12614080

PubMed ID: 1871109

Title: Human type VII collagen: cDNA cloning and chromosomal mapping of the gene.

PubMed ID: 1871109

DOI: 10.1073/pnas.88.16.6931

PubMed ID: 8499916

Title: The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene.

PubMed ID: 8499916

DOI: 10.1093/hmg/2.3.273

PubMed ID: 2537292

Title: Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin.

PubMed ID: 2537292

DOI: 10.1016/s0021-9258(19)84924-4

PubMed ID: 19269366

Title: TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites.

PubMed ID: 19269366

DOI: 10.1016/j.cell.2008.12.025

PubMed ID: 9375848

Title: Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).

PubMed ID: 9375848

DOI: 10.1002/(sici)1098-1004(1997)10:5<338::aid-humu2>3.0.co;2-b

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 2653224

Title: Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome.

PubMed ID: 2653224

DOI: 10.1001/archderm.125.5.633

PubMed ID: 8513326

Title: A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.

PubMed ID: 8513326

DOI: 10.1038/ng0593-62

PubMed ID: 8170945

Title: Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.

PubMed ID: 8170945

DOI: 10.1073/pnas.91.9.3549

PubMed ID: 8541842

Title: Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.

PubMed ID: 8541842

DOI: 10.1093/hmg/4.9.1579

PubMed ID: 7861014

Title: A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.

PubMed ID: 7861014

DOI: 10.1111/1523-1747.ep12666033

PubMed ID: 8644729

Title: Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.

PubMed ID: 8644729

PubMed ID: 8592061

Title: Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.

PubMed ID: 8592061

DOI: 10.1111/1523-1747.ep12329600

PubMed ID: 8618018

Title: Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.

PubMed ID: 8618018

DOI: 10.1111/1523-1747.ep12345814

PubMed ID: 8757758

Title: Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.

PubMed ID: 8757758

DOI: 10.1111/1523-1747.ep12329570

PubMed ID: 9326325

Title: Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

PubMed ID: 9326325

DOI: 10.1086/515495

PubMed ID: 9444387

Title: Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

PubMed ID: 9444387

DOI: 10.1007/s004030050253

PubMed ID: 9215684

Title: Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

PubMed ID: 9215684

DOI: 10.1093/hmg/6.7.1125

PubMed ID: 9008239

Title: Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

PubMed ID: 9008239

DOI: 10.1111/1523-1747.ep12335324

PubMed ID: 9668111

Title: Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

PubMed ID: 9668111

DOI: 10.1074/jbc.273.30.19228

PubMed ID: 9740253

Title: Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

PubMed ID: 9740253

DOI: 10.1046/j.1523-1747.1998.00326.x

PubMed ID: 9804332

Title: Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

PubMed ID: 9804332

DOI: 10.1046/j.1523-1747.1998.00397.x

PubMed ID: 9856843

Title: Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

PubMed ID: 9856843

DOI: 10.1046/j.1523-1747.1998.00422.x

PubMed ID: 9856844

Title: Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.

PubMed ID: 9856844

DOI: 10.1046/j.1523-1747.1998.00394.x

PubMed ID: 10232406

Title: Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?

PubMed ID: 10232406

DOI: 10.1111/j.1600-0625.1999.tb00362.x

PubMed ID: 10232407

Title: Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.

PubMed ID: 10232407

DOI: 10.1111/j.1600-0625.1999.tb00363.x

PubMed ID: 10232408

Title: Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.

PubMed ID: 10232408

DOI: 10.1111/j.1600-0625.1999.tb00364.x

PubMed ID: 10084325

Title: Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

PubMed ID: 10084325

DOI: 10.1046/j.1523-1747.1999.00518.x

PubMed ID: 10233777

Title: Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).

PubMed ID: 10233777

DOI: 10.1046/j.1523-1747.1999.00568.x

PubMed ID: 10383749

Title: Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.

PubMed ID: 10383749

DOI: 10.1046/j.1523-1747.1999.00614.x

PubMed ID: 10469344

Title: Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype.

PubMed ID: 10469344

DOI: 10.1046/j.1523-1747.1999.00713.x

PubMed ID: 10504458

Title: Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

PubMed ID: 10504458

DOI: 10.1046/j.1523-1747.1999.00732.x

PubMed ID: 10836608

Title: A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.

PubMed ID: 10836608

DOI: 10.1007/s004030050472

PubMed ID: 11142768

Title: Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.

PubMed ID: 11142768

DOI: 10.1007/s004030000162

PubMed ID: 10620140

Title: Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.

PubMed ID: 10620140

DOI: 10.1046/j.1523-1747.2000.00848.x

PubMed ID: 11167698

Title: Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

PubMed ID: 11167698

DOI: 10.1046/j.1365-2133.2001.03966.x

PubMed ID: 11843659

Title: Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.

PubMed ID: 11843659

DOI: 10.1001/archderm.138.2.269

PubMed ID: 11874498

Title: EB simplex superficialis resulting from a mutation in the type VII collagen gene.

PubMed ID: 11874498

DOI: 10.1046/j.0022-202x.2001.01702.x

PubMed ID: 12787275

Title: Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

PubMed ID: 12787275

DOI: 10.1046/j.1525-1470.2003.20312.x

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 20108428

Title: Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.

PubMed ID: 20108428

PubMed ID: 20598510

Title: Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.

PubMed ID: 20598510

DOI: 10.1016/j.jdermsci.2010.05.007

Sequence Information:

  • Length: 2944
  • Mass: 295220
  • Checksum: 96D8BF6D0FD387DB
  • Sequence:
    • MTLRLLVAAL CAGILAEAPR VRAQHRERVT CTRLYAADIV FLLDGSSSIG RSNFREVRSF 
LEGLVLPFSG AASAQGVRFA TVQYSDDPRT EFGLDALGSG GDVIRAIREL SYKGGNTRTG 
AAILHVADHV FLPQLARPGV PKVCILITDG KSQDLVDTAA QRLKGQGVKL FAVGIKNADP 
EELKRVASQP TSDFFFFVND FSILRTLLPL VSRRVCTTAG GVPVTRPPDD STSAPRDLVL 
SEPSSQSLRV QWTAASGPVT GYKVQYTPLT GLGQPLPSER QEVNVPAGET SVRLRGLRPL 
TEYQVTVIAL YANSIGEAVS GTARTTALEG PELTIQNTTA HSLLVAWRSV PGATGYRVTW 
RVLSGGPTQQ QELGPGQGSV LLRDLEPGTD YEVTVSTLFG RSVGPATSLM ARTDASVEQT 
LRPVILGPTS ILLSWNLVPE ARGYRLEWRR ETGLEPPQKV VLPSDVTRYQ LDGLQPGTEY 
RLTLYTLLEG HEVATPATVV PTGPELPVSP VTDLQATELP GQRVRVSWSP VPGATQYRII 
VRSTQGVERT LVLPGSQTAF DLDDVQAGLS YTVRVSARVG PREGSASVLT VRREPETPLA 
VPGLRVVVSD ATRVRVAWGP VPGASGFRIS WSTGSGPESS QTLPPDSTAT DITGLQPGTT 
YQVAVSVLRG REEGPAAVIV ARTDPLGPVR TVHVTQASSS SVTITWTRVP GATGYRVSWH 
SAHGPEKSQL VSGEATVAEL DGLEPDTEYT VHVRAHVAGV DGPPASVVVR TAPEPVGRVS 
RLQILNASSD VLRITWVGVT GATAYRLAWG RSEGGPMRHQ ILPGNTDSAE IRGLEGGVSY 
SVRVTALVGD REGTPVSIVV TTPPEAPPAL GTLHVVQRGE HSLRLRWEPV PRAQGFLLHW 
QPEGGQEQSR VLGPELSSYH LDGLEPATQY RVRLSVLGPA GEGPSAEVTA RTESPRVPSI 
ELRVVDTSID SVTLAWTPVS RASSYILSWR PLRGPGQEVP GSPQTLPGIS SSQRVTGLEP 
GVSYIFSLTP VLDGVRGPEA SVTQTPVCPR GLADVVFLPH ATQDNAHRAE ATRRVLERLV 
LALGPLGPQA VQVGLLSYSH RPSPLFPLNG SHDLGIILQR IRDMPYMDPS GNNLGTAVVT 
AHRYMLAPDA PGRRQHVPGV MVLLVDEPLR GDIFSPIREA QASGLNVVML GMAGADPEQL 
RRLAPGMDSV QTFFAVDDGP SLDQAVSGLA TALCQASFTT QPRPEPCPVY CPKGQKGEPG 
EMGLRGQVGP PGDPGLPGRT GAPGPQGPPG SATAKGERGF PGADGRPGSP GRAGNPGTPG 
APGLKGSPGL PGPRGDPGER GPRGPKGEPG APGQVIGGEG PGLPGRKGDP GPSGPPGPRG 
PLGDPGPRGP PGLPGTAMKG DKGDRGERGP PGPGEGGIAP GEPGLPGLPG SPGPQGPVGP 
PGKKGEKGDS EDGAPGLPGQ PGSPGEQGPR GPPGAIGPKG DRGFPGPLGE AGEKGERGPP 
GPAGSRGLPG VAGRPGAKGP EGPPGPTGRQ GEKGEPGRPG DPAVVGPAVA GPKGEKGDVG 
PAGPRGATGV QGERGPPGLV LPGDPGPKGD PGDRGPIGLT GRAGPPGDSG PPGEKGDPGR 
PGPPGPVGPR GRDGEVGEKG DEGPPGDPGL PGKAGERGLR GAPGVRGPVG EKGDQGDPGE 
DGRNGSPGSS GPKGDRGEPG PPGPPGRLVD TGPGAREKGE PGDRGQEGPR GPKGDPGLPG 
APGERGIEGF RGPPGPQGDP GVRGPAGEKG DRGPPGLDGR SGLDGKPGAA GPSGPNGAAG 
KAGDPGRDGL PGLRGEQGLP GPSGPPGLPG KPGEDGKPGL NGKNGEPGDP GEDGRKGEKG 
DSGASGREGR DGPKGERGAP GILGPQGPPG LPGPVGPPGQ GFPGVPGGTG PKGDRGETGS 
KGEQGLPGER GLRGEPGSVP NVDRLLETAG IKASALREIV ETWDESSGSF LPVPERRRGP 
KGDSGEQGPP GKEGPIGFPG ERGLKGDRGD PGPQGPPGLA LGERGPPGPS GLAGEPGKPG 
IPGLPGRAGG VGEAGRPGER GERGEKGERG EQGRDGPPGL PGTPGPPGPP GPKVSVDEPG 
PGLSGEQGPP GLKGAKGEPG SNGDQGPKGD RGVPGIKGDR GEPGPRGQDG NPGLPGERGM 
AGPEGKPGLQ GPRGPPGPVG GHGDPGPPGA PGLAGPAGPQ GPSGLKGEPG ETGPPGRGLT 
GPTGAVGLPG PPGPSGLVGP QGSPGLPGQV GETGKPGAPG RDGASGKDGD RGSPGVPGSP 
GLPGPVGPKG EPGPTGAPGQ AVVGLPGAKG EKGAPGGLAG DLVGEPGAKG DRGLPGPRGE 
KGEAGRAGEP GDPGEDGQKG APGPKGFKGD PGVGVPGSPG PPGPPGVKGD LGLPGLPGAP 
GVVGFPGQTG PRGEMGQPGP SGERGLAGPP GREGIPGPLG PPGPPGSVGP PGASGLKGDK 
GDPGVGLPGP RGERGEPGIR GEDGRPGQEG PRGLTGPPGS RGERGEKGDV GSAGLKGDKG 
DSAVILGPPG PRGAKGDMGE RGPRGLDGDK GPRGDNGDPG DKGSKGEPGD KGSAGLPGLR 
GLLGPQGQPG AAGIPGDPGS PGKDGVPGIR GEKGDVGFMG PRGLKGERGV KGACGLDGEK 
GDKGEAGPPG RPGLAGHKGE MGEPGVPGQS GAPGKEGLIG PKGDRGFDGQ PGPKGDQGEK 
GERGTPGIGG FPGPSGNDGS AGPPGPPGSV GPRGPEGLQG QKGERGPPGE RVVGAPGVPG 
APGERGEQGR PGPAGPRGEK GEAALTEDDI RGFVRQEMSQ HCACQGQFIA SGSRPLPSYA 
ADTAGSQLHA VPVLRVSHAE EEERVPPEDD EYSEYSEYSV EEYQDPEAPW DSDDPCSLPL 
DEGSCTAYTL RWYHRAVTGS TEACHPFVYG GCGGNANRFG TREACERRCP PRVVQSQGTG 
TAQD

Genular Protein ID: 2617458229

Symbol: Q59F16_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59F16

Database IDs:

ARBA 1 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 InterPro 2 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 SAM 1

Sequence Information:

  • Length: 1027
  • Mass: 96806
  • Checksum: 59F1A5256985A6D3
  • Sequence:
    • GLPGRKGDPG PSGPPGPRGP LGDPGPRGPP GLPGTAMKGD KGDRGERGPP GPGEGGIAPG 
EPGLPGLPGS PGPQGPVGPP GKKGEKGDSE DGAPGLPGQP GSPGEQGPRG PPGAIGPKGD 
RGFPGPLGEA GEKGERGPPG PAGSRGLPGV AGRPGAKGPE GPPGPTGRQG EKGEPGRPGD 
PAVVGPAVAG PKGEKGDVGP AGPRGATGVQ GERGPPGLVL PGDPGPKGDP GDRGPIGLTG 
RAGPPGDSGP PGEKGDPGRP GPPGPVGPRG RDGEVGEKGD EGPPGDPGLP GKAGERGLRG 
APGVRGPVGE KGDQGDPGED GRNGSPGSSG PKGDRGEPGP PGPPGRLVDT GPGAREKGEP 
GDRGQEGPRG PKGDPGLPGA PGERGIEGFR GPPGPQGDPG VRGPAGEKGD RGPPGLDGRS 
GLDGKPGAAG PSGPNGAAGK AGDPGRDGLP GLRGEQGLPG PSGPPGLPGK PGEDGKPGLN 
GKNGEPGDPG EDGRKGEKGD SGASGREGRD GPKGERGAPG ILGPQGPPGL PGPVGPPGQG 
FPGVPGGTGP KGDRGETGSK GEQGLPGERG LRGEPGSVPN VDRLLETAGI KASALREIVE 
TWDESSGSFL PVPERRRGPK GDSGEQGPPG KEGPIGFPGE RGLKGDRGDP GPQGPPGLAL 
GERGPPGPSG LAGEPGKPGI PGLPGRAGGV GEAGRPGERG ERGEKGERGE QGRDGPPGLP 
GTPGPPGPPG PKVSVDEPGP GLSGEQGPPG LKGAKGEPGS NGDQGPKGDR GVPGIKGDRG 
EPGPRGQDGN PGLPGERGMA GPEGKPGLQG PRGPPGPVGG HGDPGPPGAP GLAGPAGPQG 
PSGLKGEPGE TGPPGRGLTG PTGAVGLPGP PGPSGLVGPQ GSPGLPGQVG ETGKPGAPGR 
DGASGKDGDR GSPGVPGSPG LPGPVGPKGE PGPTGAPGQA VVGLPGAKGE KGAPGGLAGD 
LVGEPGAKGD RGLPGPRGEK GEAGRAGEPG DPGEDVSPGP RQGRAWPEEC DGGHKGPLLG 
RGTCLSP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.