Details for: COL7A1

Gene ID: 1294

Symbol: COL7A1

Ensembl ID: ENSG00000114270

Description: collagen type VII alpha 1 chain

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 3.13
    Marker Score: 3544
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 2.07
    Marker Score: 904
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.02
    Marker Score: 3107
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1166
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 1.51
    Marker Score: 340
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.05
    Marker Score: 11860
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251802
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.02
    Marker Score: 905
  • Cell Name: interneuron (CL0000099)
    Fold Change: 1.01
    Marker Score: 461.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71820
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48045
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.99
    Marker Score: 15515
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 506
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5279
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.92
    Marker Score: 6827
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.91
    Marker Score: 1412
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2737
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5285
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.87
    Marker Score: 1124
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.86
    Marker Score: 290
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.85
    Marker Score: 7989
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.82
    Marker Score: 623
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 699
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 306
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3068
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.72
    Marker Score: 1467
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.69
    Marker Score: 1319
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.67
    Marker Score: 665.5
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.66
    Marker Score: 697
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.65
    Marker Score: 254
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.65
    Marker Score: 240
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.61
    Marker Score: 839
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.58
    Marker Score: 662
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 445
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 146
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.55
    Marker Score: 345
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.54
    Marker Score: 5613
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.52
    Marker Score: 908
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.5
    Marker Score: 2055
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.5
    Marker Score: 18612
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.5
    Marker Score: 955.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.49
    Marker Score: 9696
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.48
    Marker Score: 583
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.47
    Marker Score: 472
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.46
    Marker Score: 221
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.46
    Marker Score: 17584
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.46
    Marker Score: 6841
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.45
    Marker Score: 189
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.44
    Marker Score: 1720
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.43
    Marker Score: 250
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.43
    Marker Score: 3279
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.42
    Marker Score: 593
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.41
    Marker Score: 665.5
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4
    Marker Score: 988
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.38
    Marker Score: 542
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.37
    Marker Score: 816.5
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.37
    Marker Score: 3534
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.36
    Marker Score: 99
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.36
    Marker Score: 397
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.36
    Marker Score: 159
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.35
    Marker Score: 144
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.34
    Marker Score: 290
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.33
    Marker Score: 104
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.31
    Marker Score: 1268
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.31
    Marker Score: 1131
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.3
    Marker Score: 179
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.3
    Marker Score: 496
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.29
    Marker Score: 107
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.29
    Marker Score: 75
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.29
    Marker Score: 251
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.29
    Marker Score: 17758
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.29
    Marker Score: 93
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.29
    Marker Score: 81
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.28
    Marker Score: 9545
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.28
    Marker Score: 340
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.27
    Marker Score: 771
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.27
    Marker Score: 99
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.27
    Marker Score: 175
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.26
    Marker Score: 606
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.25
    Marker Score: 478
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.25
    Marker Score: 5491
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.24
    Marker Score: 750
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.23
    Marker Score: 60
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.23
    Marker Score: 979
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.22
    Marker Score: 1347
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.22
    Marker Score: 93
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.22
    Marker Score: 77
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.22
    Marker Score: 375
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.22
    Marker Score: 209
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 0.22
    Marker Score: 281
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.21
    Marker Score: 4588

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Other Information

**Key characteristics** * COL7A1 is a large protein (180 kDa) that is produced by multiple alternatively spliced transcripts. * It is the most abundant type of collagen in the body. * It is a key component of the skin, cartilage, bone, and blood vessels. * It is also found in the extracellular matrix of epithelial cells, where it helps to maintain cell-cell adhesion and provide structural support. * It is a major component of the basement membrane, which provides a barrier between the inside of the cell and the outside world. **Pathways and functions** * COL7A1 is involved in the anchoring fibril formation of collagen fibrils and other multimeric structures. * It is also involved in the assembly of collagen fibrils and other multimeric structures. * It is a key component of the ECM, where it helps to maintain cell-cell adhesion and provide structural support. * It is also involved in the transport of vesicles to the cell surface. * It is a major component of the basement membrane, which provides a barrier between the inside of the cell and the outside world. **Clinical significance** Mutations in the COL7A1 gene have been linked to several human diseases, including: * Osteogenesis imperfecta * Fibrous dysplasia * Marfan syndrome * Ehlers-Danlos syndrome These diseases are characterized by abnormalities in the ECM, which can lead to tissue weakness, pain, and other health problems.

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 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 14 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MEROPS 1 MIM 16 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 9 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 4 PROSITE-ProRule 3 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 SAM 1 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 EMBL 2 GO 1 Genevisible 1 GenomeRNAi 1 InterPro 1 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. For the full schema, download it here.