| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1294 |
Name | COL7A1 |
Synonym | EBD1|EBDCT|EBR1;collagen, type VII, alpha 1;COL7A1;collagen, type VII, alpha 1 |
Definition | LC collagen|collagen VII, alpha-1 polypeptide|collagen alpha-1(VII) chain|long-chain collagen |
Position | 3p21.1 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Integrin signalling pathway;PANTHER;P00034 |
Disease | Epidermolysis bullosa pruriginosa;OMIM |
Disease | Epidermolysis bullosa dystrophica, AD;OMIM |
Disease | Toenail dystrophy, isolated;OMIM |
Disease | Epidermolysis bullosa dystrophica, AR;OMIM |
Disease | Epidermolysis bullosa, pretibial;OMIM |
Disease | EBD inversa;OMIM |
Disease | Transient bullous of the newborn;OMIM |
Disease | EBD, localisata variant;OMIM |
Disease | EBD, Bart type;OMIM |
External Links | |
Links to Entrez Gene | 1294 |
Links to all GeneRIF Items | 1294 |
Links to iHOP | 1294 |
Sequence Information | |
Nucleotide Sequence | >1294 : length: 8835 atgacgctgcggcttctggtggccgcgctctgcgccgggatcctggcagaggcgccccga gtgcgagcccagcacagggagagagtgacctgcacgcgcctttacgccgctgacattgtg ttcttactggatggctcctcatccattggccgcagcaatttccgcgaggtccgcagcttt ctcgaagggctggtgctgcctttctctggagcagccagtgcacagggtgtgcgctttgcc acagtgcagtacagcgatgacccacggacagagttcggcctggatgcacttggctctggg ggtgatgtgatccgcgccatccgtgagcttagctacaaggggggcaacactcgcacaggg gctgcaattctccatgtggctgaccatgtcttcctgccccagctggcccgacctggtgtc cccaaggtctgcatcctgatcacagacgggaagtcccaggacctggtggacacagctgcc caaaggctgaaggggcagggggtcaagctatttgctgtggggatcaagaatgctgaccct gaggagctgaagcgagttgcctcacagcccaccagtgacttcttcttcttcgtcaatgac ttcagcatcttgaggacactactgcccctcgtttcccggagagtgtgcacgactgctggt ggcgtgcctgtgacccgacctccggatgactcgacctctgctccacgagacctggtgctg tctgagccaagcagccaatccttgagagtacagtggacagcggccagtggccctgtgact ggctacaaggtccagtacactcctctgacggggctgggacagccactgccgagtgagcgg caggaggtgaacgtcccagctggtgagaccagtgtgcggctgcggggtctccggccactg accgagtaccaagtgactgtgattgccctctacgccaacagcatcggggaggctgtgagc gggacagctcggaccactgccctagaagggccggaactgaccatccagaataccacagcc cacagcctcctggtggcctggcggagtgtgccaggtgccactggctaccgtgtgacatgg cgggtcctcagtggtgggcccacacagcagcaggagctgggccctgggcagggttcagtg ttgctgcgtgacttggagcctggcacggactatgaggtgaccgtgagcaccctatttggc cgcagtgtggggcccgccacttccctgatggctcgcactgacgcttctgttgagcagacc ctgcgcccggtcatcctgggccccacatccatcctcctttcctggaacttggtgcctgag gcccgtggctaccggttggaatggcggcgtgagactggcttggagccaccgcagaaggtg gtactgccctctgatgtgacccgctaccagttggatgggctgcagccgggcactgagtac cgcctcacactctacactctgctggagggccacgaggtggccacccctgcaaccgtggtt cccactggaccagagctgcctgtgagccctgtaacagacctgcaagccaccgagctgccc gggcagcgggtgcgagtgtcctggagcccagtccctggtgccacccagtaccgcatcatt gtgcgcagcacccagggggttgagcggaccctggtgcttcctgggagtcagacagcattc gacttggatgacgttcaggctgggcttagctacactgtgcgggtgtctgctcgagtgggt ccccgtgagggcagtgccagtgtcctcactgtccgccgggagccggaaactccacttgct gttccagggctgcgggttgtggtgtcagatgcaacgcgagtgagggtggcctggggaccc gtccctggagccagtggatttcggattagctggagcacaggcagtggtccggagtccagc cagacactgcccccagactctactgccacagacatcacagggctgcagcctggaaccacc taccaggtggctgtgtcggtactgcgaggcagagaggagggccctgctgcagtcatcgtg gctcgaacggacccactgggcccagtgaggacggtccatgtgactcaggccagcagctca tctgtcaccattacctggaccagggttcctggcgccacaggatacagggtttcctggcac tcagcccacggcccagagaaatcccagttggtttctggggaggccacggtggctgagctg gatggactggagccagatactgagtatacggtgcatgtgagggcccatgtggctggcgtg gatgggccccctgcctctgtggttgtgaggactgcccctgagcctgtgggtcgtgtgtcg aggctgcagatcctcaatgcttccagcgacgttctacggatcacctgggtaggggtcact ggagccacagcttacagactggcctggggccggagtgaaggcggccccatgaggcaccag atactcccaggaaacacagactctgcagagatccggggtctcgaaggtggagtcagctac tcagtgcgagtgactgcacttgtcggggaccgcgagggcacacctgtctccattgttgtc actacgccgcctgaggctccgccagccctggggacgcttcacgtggtgcagcgcggggag cactcgctgaggctgcgctgggagccggtgcccagagcgcagggcttccttctgcactgg caacctgagggtggccaggaacagtcccgggtcctggggcccgagctcagcagctatcac ctggacgggctggagccagcgacacagtaccgcgtgaggctgagtgtcctagggccagct ggagaagggccctctgcagaggtgactgcgcgcactgagtcacctcgtgttccaagcatt gaactacgtgtggtggacacctcgatcgactcggtgactttggcctggactccagtgtcc agggcatccagctacatcctatcctggcggccactcagaggccctggccaggaagtgcct gggtccccgcagacacttccagggatctcaagctcccagcgggtgacagggctagagcct ggcgtctcttacatcttctccctgacgcctgtcctggatggtgtgcggggtcctgaggca tctgtcacacagacgccagtgtgcccccgtggcctggcggatgtggtgttcctaccacat gccactcaagacaatgctcaccgtgcggaggctacgaggagggtcctggagcgtctggtg ttggcacttgggcctcttgggccacaggcagttcaggttggcctgctgtcttacagtcat cggccctccccactgttcccactgaatggctcccatgaccttggcattatcttgcaaagg atccgtgacatgccctacatggacccaagtgggaacaacctgggcacagccgtggtcaca gctcacagatacatgttggcaccagatgctcctgggcgccgccagcacgtaccaggggtg atggttctgctagtggatgaacccttgagaggtgacatattcagccccatccgtgaggcc caggcttctgggcttaatgtggtgatgttgggaatggctggagcggacccagagcagctg cgtcgcttggcgccgggtatggactctgtccagaccttcttcgccgtggatgatgggcca agcctggaccaggcagtcagtggtctggccacagccctgtgtcaggcatccttcactact cagccccggccagagccctgcccagtgtattgtccaaagggccagaagggggaacctgga gagatgggcctgagaggacaagttgggcctcctggcgaccctggcctcccgggcaggacc ggtgctcccggcccccaggggccccctggaagtgccactgccaagggcgagaggggcttc cctggagcagatgggcgtccaggcagccctggccgcgccgggaatcctgggacccctgga gcccctggcctaaagggctctccagggttgcctggccctcgtggggacccgggagagcga ggacctcgaggcccaaagggggagccgggggctcccggacaagtcatcggaggtgaagga cctgggcttcctgggcggaaaggggaccctggaccatcgggcccccctggacctcgtgga ccactgggggacccaggaccccgtggccccccagggcttcctggaacagccatgaagggt gacaaaggcgatcgtggggagcggggtccccctggaccaggtgaaggtggcattgctcct ggggagcctgggctgccgggtcttcccggaagccctggaccccaaggccccgttggcccc cctggaaagaaaggagaaaaaggtgactctgaggatggagctccaggcctcccaggacaa cctgggtctccgggtgagcagggcccacggggacctcctggagctattggccccaaaggt gaccggggctttccagggcccctgggtgaggctggagagaagggcgaacgtggaccccca ggcccagcgggatcccgggggctgccaggggttgctggacgtcctggagccaagggtcct gaagggccaccaggacccactggccgccaaggagagaagggggagcctggtcgccctggg gaccctgcagtggtgggacctgctgttgctggacccaaaggagaaaagggagatgtgggg cccgctgggcccagaggagctaccggagtccaaggggaacggggcccacccggcttggtt cttcctggagaccctggccccaagggagaccctggagaccggggtcccattggccttact ggcagagcaggacccccaggtgactcagggcctcctggagagaagggagaccctgggcgg cctggccccccaggacctgttggcccccgaggacgagatggtgaagttggagagaaaggt gacgagggtcctccgggtgacccgggtttgcctggaaaagcaggcgagcgtggccttcgg ggggcacctggagttcgggggcctgtgggtgaaaagggagaccagggagatcctggagag gatggacgaaatggcagccctggatcatctggacccaagggtgaccgtggggagccgggt cccccaggacccccgggacggctggtagacacaggacctggagccagagagaagggagag cctggggaccgcggacaagagggtcctcgagggcccaagggtgatcctggcctccctgga gcccctggggaaaggggcattgaagggtttcggggacccccaggcccacagggggaccca ggtgtccgaggcccagcaggagaaaagggtgaccggggtccccctgggctggatggccgg agcggactggatgggaaaccaggagccgctgggccctctgggccgaatggtgctgcaggc aaagctggggacccagggagagacgggcttccaggcctccgtggagaacagggcctccct ggcccctctggtccccctggattaccgggaaagccaggcgaggatggcaaacctggcctg aatggaaaaaacggagaacctggggaccctggagaagacgggaggaagggagagaaagga gattcaggcgcctctgggagagaaggtcgtgatggccccaagggtgagcgtggagctcct ggtatccttggaccccaggggcctccaggcctcccagggccagtgggccctcctggccag ggttttcctggtgtcccaggaggcacgggccccaagggtgaccgtggggagactggatcc aaaggggagcagggcctccctggagagcgtggcctgcgaggagagcctggaagtgtgccg aatgtggatcggttgctggaaactgctggcatcaaggcatctgccctgcgggagatcgtg gagacctgggatgagagctctggtagcttcctgcctgtgcccgaacggcgtcgaggcccc aagggggactcaggcgaacagggccccccaggcaaggagggccccatcggctttcctgga gaacgcgggctgaagggcgaccgtggagaccctggccctcaggggccacctggtctggcc cttggggagaggggcccccccgggccttccggccttgccggggagcctggaaagcctggt attcccgggctcccaggcagggctgggggtgtgggagaggcaggaaggccaggagagagg ggagaacggggagagaaaggagaacgtggagaacagggcagagatggccctcctggactc cctggaacccctgggccccccggaccccctggccccaaggtgtctgtggatgagccaggt cctggactctctggagaacagggaccccctggactcaagggtgctaagggggagccgggc agcaatggtgaccaaggtcccaaaggagacaggggtgtgccaggcatcaaaggagaccgg ggagagcctggaccgaggggtcaggacggcaacccgggtctaccaggagagcgtggtatg gctgggcctgaagggaagccgggtctgcagggtccaagaggcccccctggcccagtgggt ggtcatggagaccctggaccacctggtgccccgggtcttgctggccctgcaggaccccaa ggaccttctggcctgaagggggagcctggagagacaggacctccaggacggggcctgact ggacctactggagctgtgggacttcctggaccccccggcccttcaggccttgtgggtcca caggggtctccaggtttgcctggacaagtgggggagacagggaagccgggagccccaggt cgagatggtgccagtggaaaagatggagacagagggagccctggtgtgccagggtcacca ggtctgcctggccctgtcggacctaaaggagaacctggccccacgggggcccctggacag gctgtggtcgggctccctggagcaaagggagagaagggagcccctggaggccttgctgga gacctggtgggtgagccgggagccaaaggtgaccgaggactgccagggccgcgaggcgag aagggtgaagctggccgtgcaggggagcccggagaccctggggaagatggtcagaaaggg gctccaggacccaaaggtttcaagggtgacccaggagtcggggtcccgggctcccctggg cctcctggccctccaggtgtgaagggagatctgggcctccctggcctgcccggtgctcct ggtgttgttgggttcccgggtcagacaggccctcgaggagagatgggtcagccaggccct agtggagagcggggtctggcaggccccccagggagagaaggaatcccaggacccctgggg ccacctggaccaccggggtcagtgggaccacctggggcctctggactcaaaggagacaag ggagaccctggagtagggctgcctgggccccgaggcgagcgtggggagccaggcatccgg ggtgaagatggccgccccggccaggagggaccccgaggactcacggggccccctggcagc aggggagagcgtggggagaagggtgatgttgggagtgcaggactaaagggtgacaaggga gactcagctgtgatcctggggcctccaggcccacggggtgccaagggggacatgggtgaa cgagggcctcggggcttggatggtgacaaaggacctcggggagacaatggggaccctggt gacaagggcagcaagggagagcctggtgacaagggctcagccgggttgccaggactgcgt ggactcctgggaccccagggtcaacctggtgcagcagggatccctggtgacccgggatcc ccaggaaaggatggagtgcctggtatccgaggagaaaaaggagatgttggcttcatgggt ccccggggcctcaagggtgaacggggagtgaagggagcctgtggccttgatggagagaag ggagacaagggagaagctggtcccccaggccgccccgggctggcaggacacaaaggagag atgggggagcctggtgtgccgggccagtcgggggcccctggcaaggagggcctgatcggt cccaagggtgaccgaggctttgacgggcagccaggccccaagggtgaccagggcgagaaa ggggagcggggaaccccaggaattgggggcttcccaggccccagtggaaatgatggctct gctggtcccccagggccacctggcagtgttggtcccagaggccccgaaggacttcagggc cagaagggtgagcgaggtccccccggagagagagtggtgggggctcctggggtccctgga gctcctggcgagagaggggagcaggggcggccagggcctgccggtcctcgaggcgagaag ggagaagctgcactgacggaggatgacatccggggctttgtgcgccaagagatgagtcag cactgtgcctgccagggccagttcatcgcatctggatcacgacccctccctagttatgct gcagacactgccggctcccagctccatgctgtgcctgtgctccgcgtctctcatgcagag gaggaagagcgggtaccccctgaggatgatgagtactctgaatactccgagtattctgtg gaggagtaccaggaccctgaagctccttgggatagtgatgacccctgttccctgccactg gatgagggctcctgcactgcctacaccctgcgctggtaccatcgggctgtgacaggcagc acagaggcctgtcacccttttgtctatggtggctgtggagggaatgccaaccgttttggg acccgtgaggcctgcgagcgccgctgcccaccccgggtggtccagagccaggggacaggt actgcccaggactga |
Protein Sequence | >1294 : length: 2944 MTLRLLVAALCAGILAEAPRVRAQHRERVTCTRLYAADIVFLLDGSSSIGRSNFREVRSF LEGLVLPFSGAASAQGVRFATVQYSDDPRTEFGLDALGSGGDVIRAIRELSYKGGNTRTG AAILHVADHVFLPQLARPGVPKVCILITDGKSQDLVDTAAQRLKGQGVKLFAVGIKNADP EELKRVASQPTSDFFFFVNDFSILRTLLPLVSRRVCTTAGGVPVTRPPDDSTSAPRDLVL SEPSSQSLRVQWTAASGPVTGYKVQYTPLTGLGQPLPSERQEVNVPAGETSVRLRGLRPL TEYQVTVIALYANSIGEAVSGTARTTALEGPELTIQNTTAHSLLVAWRSVPGATGYRVTW RVLSGGPTQQQELGPGQGSVLLRDLEPGTDYEVTVSTLFGRSVGPATSLMARTDASVEQT LRPVILGPTSILLSWNLVPEARGYRLEWRRETGLEPPQKVVLPSDVTRYQLDGLQPGTEY RLTLYTLLEGHEVATPATVVPTGPELPVSPVTDLQATELPGQRVRVSWSPVPGATQYRII VRSTQGVERTLVLPGSQTAFDLDDVQAGLSYTVRVSARVGPREGSASVLTVRREPETPLA VPGLRVVVSDATRVRVAWGPVPGASGFRISWSTGSGPESSQTLPPDSTATDITGLQPGTT YQVAVSVLRGREEGPAAVIVARTDPLGPVRTVHVTQASSSSVTITWTRVPGATGYRVSWH SAHGPEKSQLVSGEATVAELDGLEPDTEYTVHVRAHVAGVDGPPASVVVRTAPEPVGRVS RLQILNASSDVLRITWVGVTGATAYRLAWGRSEGGPMRHQILPGNTDSAEIRGLEGGVSY SVRVTALVGDREGTPVSIVVTTPPEAPPALGTLHVVQRGEHSLRLRWEPVPRAQGFLLHW QPEGGQEQSRVLGPELSSYHLDGLEPATQYRVRLSVLGPAGEGPSAEVTARTESPRVPSI ELRVVDTSIDSVTLAWTPVSRASSYILSWRPLRGPGQEVPGSPQTLPGISSSQRVTGLEP GVSYIFSLTPVLDGVRGPEASVTQTPVCPRGLADVVFLPHATQDNAHRAEATRRVLERLV LALGPLGPQAVQVGLLSYSHRPSPLFPLNGSHDLGIILQRIRDMPYMDPSGNNLGTAVVT AHRYMLAPDAPGRRQHVPGVMVLLVDEPLRGDIFSPIREAQASGLNVVMLGMAGADPEQL RRLAPGMDSVQTFFAVDDGPSLDQAVSGLATALCQASFTTQPRPEPCPVYCPKGQKGEPG EMGLRGQVGPPGDPGLPGRTGAPGPQGPPGSATAKGERGFPGADGRPGSPGRAGNPGTPG APGLKGSPGLPGPRGDPGERGPRGPKGEPGAPGQVIGGEGPGLPGRKGDPGPSGPPGPRG PLGDPGPRGPPGLPGTAMKGDKGDRGERGPPGPGEGGIAPGEPGLPGLPGSPGPQGPVGP PGKKGEKGDSEDGAPGLPGQPGSPGEQGPRGPPGAIGPKGDRGFPGPLGEAGEKGERGPP GPAGSRGLPGVAGRPGAKGPEGPPGPTGRQGEKGEPGRPGDPAVVGPAVAGPKGEKGDVG PAGPRGATGVQGERGPPGLVLPGDPGPKGDPGDRGPIGLTGRAGPPGDSGPPGEKGDPGR PGPPGPVGPRGRDGEVGEKGDEGPPGDPGLPGKAGERGLRGAPGVRGPVGEKGDQGDPGE DGRNGSPGSSGPKGDRGEPGPPGPPGRLVDTGPGAREKGEPGDRGQEGPRGPKGDPGLPG APGERGIEGFRGPPGPQGDPGVRGPAGEKGDRGPPGLDGRSGLDGKPGAAGPSGPNGAAG KAGDPGRDGLPGLRGEQGLPGPSGPPGLPGKPGEDGKPGLNGKNGEPGDPGEDGRKGEKG DSGASGREGRDGPKGERGAPGILGPQGPPGLPGPVGPPGQGFPGVPGGTGPKGDRGETGS KGEQGLPGERGLRGEPGSVPNVDRLLETAGIKASALREIVETWDESSGSFLPVPERRRGP KGDSGEQGPPGKEGPIGFPGERGLKGDRGDPGPQGPPGLALGERGPPGPSGLAGEPGKPG IPGLPGRAGGVGEAGRPGERGERGEKGERGEQGRDGPPGLPGTPGPPGPPGPKVSVDEPG PGLSGEQGPPGLKGAKGEPGSNGDQGPKGDRGVPGIKGDRGEPGPRGQDGNPGLPGERGM AGPEGKPGLQGPRGPPGPVGGHGDPGPPGAPGLAGPAGPQGPSGLKGEPGETGPPGRGLT GPTGAVGLPGPPGPSGLVGPQGSPGLPGQVGETGKPGAPGRDGASGKDGDRGSPGVPGSP GLPGPVGPKGEPGPTGAPGQAVVGLPGAKGEKGAPGGLAGDLVGEPGAKGDRGLPGPRGE KGEAGRAGEPGDPGEDGQKGAPGPKGFKGDPGVGVPGSPGPPGPPGVKGDLGLPGLPGAP GVVGFPGQTGPRGEMGQPGPSGERGLAGPPGREGIPGPLGPPGPPGSVGPPGASGLKGDK GDPGVGLPGPRGERGEPGIRGEDGRPGQEGPRGLTGPPGSRGERGEKGDVGSAGLKGDKG DSAVILGPPGPRGAKGDMGERGPRGLDGDKGPRGDNGDPGDKGSKGEPGDKGSAGLPGLR GLLGPQGQPGAAGIPGDPGSPGKDGVPGIRGEKGDVGFMGPRGLKGERGVKGACGLDGEK GDKGEAGPPGRPGLAGHKGEMGEPGVPGQSGAPGKEGLIGPKGDRGFDGQPGPKGDQGEK GERGTPGIGGFPGPSGNDGSAGPPGPPGSVGPRGPEGLQGQKGERGPPGERVVGAPGVPG APGERGEQGRPGPAGPRGEKGEAALTEDDIRGFVRQEMSQHCACQGQFIASGSRPLPSYA ADTAGSQLHAVPVLRVSHAEEEERVPPEDDEYSEYSEYSVEEYQDPEAPWDSDDPCSLPL DEGSCTAYTLRWYHRAVTGSTEACHPFVYGGCGGNANRFGTREACERRCPPRVVQSQGTG TAQD |