KEGG   Homo sapiens (human): 1308
Entry
1308              CDS       T01001                                 
Symbol
COL17A1, BA16H23.2, BP180, BPA-2, BPAG2, ERED, JEB4, LAD-1
Name
(RefSeq) collagen type XVII alpha 1 chain
  KO
K07603  collagen type XVII alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00586  Epidermolysis bullosa, junctional
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1308 (COL17A1)
SSDB
Motif
Pfam: Collagen DUF2868
Other DBs
NCBI-GeneID: 1308
NCBI-ProteinID: NP_000485
OMIM: 113811
HGNC: 2194
Ensembl: ENSG00000065618
UniProt: Q9UMD9
Position
10:complement(104031286..104085880)
AA seq 1497 aa
MDVTKKNKRDGTEVTERIVTETVTTRLTSLPPKGGTSNGYAKTASLGGGSRLEKQSLTHG
SSGYINSTGSTRGHASTSSYRRAHSPASTLPNSPGSTFERKTHVTRHAYEGSSSGNSSPE
YPRKEFASSSTRGRSQTRESEIRVRLQSASPSTRWTELDDVKRLLKGSRSASVSPTRNSS
NTLPIPKKGTVETKIVTASSQSVSGTYDATILDANLPSHVWSSTLPAGSSMGTYHNNMTT
QSSSLLNTNAYSAGSVFGVPNNMASCSPTLHPGLSTSSSVFGMQNNLAPSLTTLSHGTTT
TSTAYGVKKNMPQSPAAVNTGVSTSAACTTSVQSDDLLHKDCKFLILEKDNTPAKKEMEL
LIMTKDSGKVFTASPASIAATSFSEDTLKKEKQAAYNADSGLKAEANGDLKTVSTKGKTT
TADIHSYGSSGGGGSGGGGGVGGAGGGPWGPAPAWCPCGSCCSWWKWLLGLLLTWLLLLG
LLFGLIALAEEVRKLKARVDELERIRRSILPYGDSMDRIEKDRLQGMAPAAGADLDKIGL
HSDSQEELWMFVRKKLMMEQENGNLRGSPGPKGDMGSPGPKGDRGFPGTPGIPGPLGHPG
PQGPKGQKGSVGDPGMEGPMGQRGREGPMGPRGEAGPPGSGEKGERGAAGEPGPHGPPGV
PGSVGPKGSSGSPGPQGPPGPVGLQGLRGEVGLPGVKGDKGPMGPPGPKGDQGEKGPRGL
TGEPGMRGLPGAVGEPGAKGAMGPAGPDGHQGPRGEQGLTGMPGIRGPPGPSGDPGKPGL
TGPQGPQGLPGTPGRPGIKGEPGAPGKIVTSEGSSMLTVPGPPGPPGAMGPPGPPGAPGP
AGPAGLPGHQEVLNLQGPPGPPGPRGPPGPSIPGPPGPRGPPGEGLPGPPGPPGSFLSNS
ETFLSGPPGPPGPPGPKGDQGPPGPRGHQGEQGLPGFSTSGSSSFGLNLQGPPGPPGPQG
PKGDKGDPGVPGALGIPSGPSEGGSSSTMYVSGPPGPPGPPGPPGSISSSGQEIQQYISE
YMQSDSIRSYLSGVQGPPGPPGPPGPVTTITGETFDYSELASHVVSYLRTSGYGVSLFSS
SISSEDILAVLQRDDVRQYLRQYLMGPRGPPGPPGASGDGSLLSLDYAELSSRILSYMSS
SGISIGLPGPPGPPGLPGTSYEELLSLLRGSEFRGIVGPPGPPGPPGIPGNVWSSISVED
LSSYLHTAGLSFIPGPPGPPGPPGPRGPPGVSGALATYAAENSDSFRSELISYLTSPDVR
SFIVGPPGPPGPQGPPGDSRLLSTDASHSRGSSSSSHSSSVRRGSSYSSSMSTGGGGAGS
LGAGGAFGEAAGDRGPYGTDIGPGGGYGAAAEGGMYAGNGGLLGADFAGDLDYNELAVRV
SESMQRQGLLQGMAYTVQGPPGQPGPQGPPGISKVFSAYSNVTADLMDFFQTYGAIQGPP
GQKGEMGTPGPKGDRGPAGPPGHPGPPGPRGHKGEKGDKGDQVYAGRRRRRSIAVKP
NT seq 4494 nt   +upstreamnt  +downstreamnt
atggatgtaaccaagaaaaacaaacgagatggaactgaagtcactgagagaattgtcact
gaaacagtaaccacaagacttacatccttaccaccaaaaggcgggaccagcaatggctat
gctaaaacagcctctcttggtggagggagccggctggagaaacaaagcctgactcatggc
agcagcggctacataaactcaactggaagcacacgaggccatgcctccacctctagttac
aggagggctcactcacctgcctccactctgcccaactccccaggctcaacctttgaaagg
aaaactcacgttacccgccatgcgtatgaagggagctccagtggcaactcttctccggag
taccctcggaaggaatttgcatcttcttcaaccagaggacggagtcaaacacgagagagt
gaaattcgagttcgactgcagagtgcgtccccatccacccgatggacagaattggatgat
gttaagcgtttgctcaaggggagtcgatcggcaagtgtgagccccacccggaattcctcc
aacacactccccatccccaagaaaggcactgtggagaccaaaattgtgacagcgagctcc
cagtcggtgtcaggcacctacgatgcaacgatcctggatgccaaccttccctcccatgtg
tggtcctccaccctgcccgcggggtcctccatggggacctatcacaacaacatgacaacc
cagagctcatccctcctcaacaccaatgcctactctgcgggatcagtcttcggagttcca
aacaacatggcgtcctgctcacccactttgcaccctggactcagcacatcctcctcagtg
tttggcatgcagaacaatctggcccccagcttgaccaccctgtcccatggcaccaccacc
acttccacagcatatggggtgaagaaaaacatgccccagagtcctgcggctgtgaacact
ggcgtttccacctccgccgcctgcaccacaagtgtgcagagcgatgaccttttgcacaag
gactgcaagttcctgatcctagagaaagacaacacacctgccaagaaggagatggagctg
ctcatcatgaccaaggacagcgggaaggtctttacagcctcccctgccagcatcgctgca
acttctttttcagaagacaccctaaaaaaagaaaagcaagctgcctacaatgctgactca
ggcctaaaagccgaagctaatggagacctgaagactgtgtccacaaagggcaagaccacc
actgcagatatccacagctacggcagcagtggtggtggtggcagtggaggaggtggcggt
gttggtggcgctggcggcggcccttggggaccagcgccagcctggtgcccctgcggctcc
tgctgcagctggtggaagtggctgctgggcctgctgctcacctggctgctactcctgggg
ctgctcttcggcctcattgctctggcggaggaggtgaggaagctgaaggcgcgtgtggat
gagctggagaggatcaggaggagcatactgccctatggggacagcatggatagaatagaa
aaggaccgcctccagggcatggcacccgcggcgggagcagacctggacaaaattgggctg
cacagtgacagccaggaggagctctggatgttcgtgaggaagaagctaatgatggaacag
gaaaatggaaatctccgaggaagccctggccctaaaggtgacatgggaagtccaggccct
aaaggagatcgagggttccctgggactccaggtatccctgggcccttgggccacccaggt
ccacaaggaccaaagggtcaaaaaggcagcgtgggagatcctggcatggaaggccccatg
ggccagagagggcgagaaggccccatgggacctcgtggtgaggcagggcctcctggatct
ggagagaaaggggaaagaggggctgctggtgaaccaggtcctcatggcccacctggtgtc
ccaggttctgtgggtcccaaaggttccagcggctctcctggcccacagggccctccaggt
cctgtaggtctccaagggctccgaggtgaagtaggacttcctggtgtcaaaggtgacaaa
ggaccaatgggaccaccaggacccaaaggtgaccagggtgagaaaggacctcgaggcctc
acaggcgagcctggcatgagaggtttgcctggtgctgttggtgagcccggggctaaagga
gcaatgggtcctgctggcccagacggacaccaaggcccaagaggtgaacaaggtcttact
gggatgcctggaatccgtggcccaccaggaccttctggagacccaggaaagccaggtctc
acaggaccccagggacctcagggacttcccggtacccctggccgaccaggaataaaaggt
gaaccaggagctccaggcaagatcgtgacttcggaggggtcatcgatgctcactgtccca
ggccccccaggacctcctggagccatgggacccccaggacctccaggtgccccaggccct
gccggcccagctggtctcccaggacatcaagaagttcttaatttacaaggtcccccaggc
ccacccggcccacgcgggccaccagggccttccattccaggcccaccaggaccccgaggc
ccaccaggggagggtttgccaggcccaccaggcccaccaggatcgttcctgtccaactca
gaaaccttcctctccggccccccaggcccacctggccccccaggtcccaagggagaccaa
ggtcccccaggccccagaggacaccaaggcgagcaaggcctcccaggtttctcaacctca
gggtccagttctttcggactcaaccttcagggaccaccaggcccacctggcccccaggga
cccaaaggtgacaaaggtgatccaggtgttccaggggctcttggcattcctagtggtcct
tctgaagggggatcatcaagtaccatgtacgtgtcaggcccgccagggccccctgggccc
cctgggcctccgggctctatcagcagctctggccaggagattcagcagtacatctctgag
tacatgcagagtgacagtattagatcttacctatccggagttcagggtcccccaggccca
cctggtcccccaggacctgtcaccaccatcacaggcgagactttcgactactcagagctg
gcaagccacgttgtgagctacttacggacttcggggtacggtgtcagcttgttctcgtcc
tccatctcttctgaagacattctggctgtgctgcagcgggatgacgtgcgtcagtaccta
cgtcagtacttgatgggccctcggggtccgccagggccaccaggagccagtggagatggg
tccctcctgtctttggactatgcagagctgagtagtcgcattctcagctacatgtcgagt
tctgggatcagcattgggcttcctggtcccccggggccccctggcttgccgggaacctcc
tatgaggagctcctctccttgctgcgagggtctgaattcagaggcatcgttggaccccca
ggtcccccgggtccaccagggatcccaggcaatgtgtggtccagcatcagcgtggaggac
ctctcgtcttacttacatactgccggcttgtcattcatcccaggccctccaggacctcct
ggtcccccagggcctcgagggcccccgggtgtctcaggagccctggcaacctatgcagct
gaaaacagcgacagcttccggagcgagctgatcagctacctcacaagtcctgatgtgcgc
agcttcattgttggccccccaggccctcctgggccgcagggaccccctggggacagccgc
ctcctgtccacggatgcctcccacagtcggggtagcagctcctcctcacacagctcatct
gtcaggcggggcagctcctacagctcttccatgagcacaggaggaggtggtgcaggctcc
ctgggtgcaggcggtgcctttggtgaagctgcaggagacaggggtccctatggcactgac
atcggcccaggcggaggctatggggcagcagcagaaggcggcatgtatgctggcaatggc
ggactattgggagctgactttgctggagatctggattacaatgagctggctgtgagggtg
tcagagagcatgcagcgtcagggcctactgcaagggatggcctacactgtccagggccca
ccaggccagcctgggccacaggggccacccggcatcagcaaggtcttctctgcctacagc
aacgtgactgcggacctcatggacttcttccaaacttatggagccattcaaggaccccct
gggcaaaaaggagagatgggcactccaggacccaaaggtgacaggggccctgctgggcca
ccaggtcatcctgggccacctggccctcgaggacacaagggagaaaaaggagacaaaggt
gaccaagtctatgctgggcggagaaggagaagaagtattgctgtcaagccgtga

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