KEGG   Homo sapiens (human): 1308
Entry
1308              CDS       T01001                                 
Symbol
COL17A1, BA16H23.2, BP180, BPA-2, BPAG2, EBR2A, ERED, JEB-I, JEB4, LAD-1
Name
(RefSeq) collagen alpha-1(XVII) chain
  KO
K07603  collagen type XVII alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
hsa04974  Protein digestion and absorption
Disease
H00586  Epidermolysis bullosa, junctional
H02867  Epithelial recurrent erosion dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1308 (COL17A1)
  09158 Development and regeneration
   04382 Cornified envelope formation
    1308 (COL17A1)
SSDB
Motif
Pfam: Collagen DUF2868
Other DBs
NCBI-GeneID: 1308
NCBI-ProteinID: NP_000485
OMIM: 113811
HGNC: 2194
Ensembl: ENSP00000497653.1
UniProt: Q9UMD9
Structure
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

  All links  
Disease (4)   
   OMIM (4)   
Gene (44)   
   RefGene (38)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (24)   
   RefSeq(nuc) (2)   
   GenBank (11)   
   EMBL (11)   
3D Structure (1)   
   PDB (1)   
Protein domain (2)   
   Pfam (2)   
All databases (78)   

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