KEGG   Homo sapiens (human): 1294
Entry
1294              CDS       T01001                                 

Gene name
COL7A1, EBD1, EBDCT, EBR1, NDNC8
Definition
(RefSeq) collagen type VII alpha 1 chain
  KO
K16628  collagen, type VII, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00587  Epidermolysis bullosa, dysprophica
H00763  Transient bullous dermolysis of the newborn
H01307  Nonsyndromic congenital nail disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1294 (COL7A1)
SSDB
Motif
Pfam: Collagen fn3 VWA VWA_2 Pur_ac_phosph_N Kunitz_BPTI DUF4992 Interfer-bind
Other DBs
NCBI-GeneID: 1294
NCBI-ProteinID: NP_000085
OMIM: 120120
HGNC: 2214
Ensembl: ENSG00000114270
Vega: OTTHUMG00000133541
Pharos: Q02388(Tbio)
UniProt: Q02388 Q59F16
Position
3p21.31
AA seq 2944 aa
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
NT seq 8835 nt   +upstreamnt  +downstreamnt
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

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (11)   
   KEGG DISEASE (3)   
   OMIM (8)   
Genome (1)   
   KEGG GENOME (1)   
Gene (97)   
   KEGG ORTHOLOGY (1)   
   RefGene (89)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (9)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (29)   
   RefSeq(nuc) (13)   
   GenBank (8)   
   EMBL (8)   
Protein domain (8)   
   Pfam (8)   
All databases (157)   

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