Details for: COL7A1
Associated with
Other Information
Genular Protein ID: 367924138
Symbol: CO7A1_HUMAN
Name: Collagen alpha-1(VII) chain
UniProtKB Accession Codes:
Database IDs:
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
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
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
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
PubMed ID: 1871109
Title: Human type VII collagen: cDNA cloning and chromosomal mapping of the gene.
PubMed ID: 1871109
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
PubMed ID: 19269366
Title: TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites.
PubMed ID: 19269366
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
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
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
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
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
PubMed ID: 8618018
Title: Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.
PubMed ID: 8618018
PubMed ID: 8757758
Title: Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
PubMed ID: 8757758
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
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
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
PubMed ID: 9740253
Title: Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.
PubMed ID: 9740253
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
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
PubMed ID: 9856844
Title: Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
PubMed ID: 9856844
PubMed ID: 10232406
Title: Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?
PubMed ID: 10232406
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
PubMed ID: 10232408
Title: Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.
PubMed ID: 10232408
PubMed ID: 10084325
Title: Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.
PubMed ID: 10084325
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
PubMed ID: 10383749
Title: Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
PubMed ID: 10383749
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
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
PubMed ID: 10836608
Title: A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
PubMed ID: 10836608
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
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
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
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
PubMed ID: 11874498
Title: EB simplex superficialis resulting from a mutation in the type VII collagen gene.
PubMed ID: 11874498
PubMed ID: 12787275
Title: Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.
PubMed ID: 12787275
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
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
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:
Database IDs:
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.