KEGG   Homo sapiens (human): 23078
Entry
23078             CDS       T01001                                 
Symbol
VWA8, KIAA0564, P7BP2, RP97
Name
(RefSeq) von Willebrand factor A domain containing 8
  KO
K24512  von Willebrand factor A domain-containing protein 8
Organism
hsa  Homo sapiens (human)
Disease
H00527  Retinitis pigmentosa
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    23078 (VWA8)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Von Willebrand domain-containing proteins
  VWA domain-containing proteins
   23078 (VWA8)
SSDB
Motif
Pfam: AAA_5 AAA_22 AAA_14 AAA_16 AAA_3 AAA AAA_2 AAA_7 Sigma54_activ_2 AAA_28 TsaE VWA_2
Other DBs
NCBI-GeneID: 23078
NCBI-ProteinID: NP_055873
OMIM: 617509
HGNC: 29071
Ensembl: ENSG00000102763
UniProt: A3KMH1
LinkDB
Position
13:complement(41566835..41961109)
AA seq 1905 aa
MQSRLLLLGAPGGHGGPASRRMRLLLRQVVQRRPGGDRQRPEVRLLHAGSGADTGDTVNI
GDVSYKLKIPKNPELVPQNYISDSLAQSVVQHLRWIMQKDLLGQDVFLIGPPGPLRRSIA
MQYLELTKREVEYIALSRDTTETDLKQRREIRAGTAFYIDQCAVRAATEGRTLILEGLEK
AERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSWKIVRVSENFRVIA
LGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTL
CSQESSTLGLPDFPLDSLAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLK
RFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPAGTRLLSQPCASDR
FIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTAR
DLLQQRYTLPNGDTAWRSSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYD
GSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVIGSTAHQWLGPEFL
TMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTR
QLLRISRRLSQYPNENLHSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELK
DYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDMLKDFLLGEHLLLV
GNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKL
GHILVVDEADKAPTNVTCILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMI
VLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNVPEPILQKLVAAFG
ELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTL
HKYGIPIGAKPTSVQLAKELTLPEQTFMGYWTIGQARSGMQKLLCPVETHHIDIKGPALI
NIQEYPIERHEERSLNFTEECASWRIPLDEINIICDIATSHENEQNTLYVVTCNPASLYF
MNMTGKSGFFVDFFDIFPRTANGVWHPFVTVAPLGSPLKGQVVLHEQQSNVILLLDTTGR
ALHRLILPSEKFTSKKPFWWNKEEAETYKMCKEFSHKNWLVFYKEKGNSLTVLDVLEGRT
HTISLPINLKTVFLVAEDKWLLVESKTNQKYLLTKPAHIESEGSGVCQLYVLKEEPPSTG
FGVTQETEFSIPHKISSDQLSSEHLSSAVEQKIASPNRILSDEKNYATIVVGFPDLMSPS
EVYSWKRPSSLHKRSGTDTSFYRGKKKRGTPKQSNCVTLLDTNQVVRILPPGEVPLKDIY
PKDVTPPQTSGYIEVTDLQSKKLRYIPIPRSESLSPYTTWLSTISDTDALLAEWDKSGVV
TVDMGGHIRLWETGLERLQRSLMEWRNMIGQDDRNMQITINRDSGEDVSSPKHGKEDPDN
MPHVGGNTWAGGTGGRDTAGLGGKGGPYRLDAGHTVYQVSQAEKDAVPEEVKRAAREMGQ
RAFQQRLKEIQMSEYDAATYERFSGAVRRQVHSLRIILDNLQAKGKERQWLRHQATGELD
DAKIIDGLTGEKAIYKRRGELEPQLGSPQQKPKRLRLVVDVSGSMYRFNRMDGRLERTME
AVCMVMEAFENYEEKFQYDIVGHSGDGYNIGLVPMNKIPKDNKQRLEILKTMHAHSQFCM
SGDHTLEGTEHAIKEIVKEEADEYFVIVLSDANLSRYGIHPAKFAQILTRDPQVNAFAIF
IGSLGDQATRLQRTLPAGRSFVAMDTKDIPQILQQIFTSTMLSSV
NT seq 5718 nt   +upstreamnt  +downstreamnt
atgcaatcccggcttctactcctcggggcacccggaggccacggcggcccggcctcgcgg
cgcatgcggctgctcctgcggcaggtggtgcagcgcaggccgggtggcgacaggcagcgg
ccggaggtcagactgttgcacgccggctcgggggccgacacaggtgatacagttaatatt
ggagatgtatcctacaagttgaaaattcctaagaatccagaacttgtgccacagaactac
atttcagactctctggctcaatctgtagttcagcatctaagatggataatgcagaaggat
cttttggggcaagatgtttttctaataggacctcctgggcctcttcgacgctctattgct
atgcagtacttggagctgaccaaacgggaggtcgaatacattgccctgtcaagggacacc
actgaaactgatctcaaacagcgacgagagatccgtgcaggcacagccttttacattgat
cagtgtgcagttcgtgcagccacagaaggcagaactctcattttggaaggtttggaaaag
gcagagaggaatgttttgcctgttttgaacaacttgctggaaaacagagagatgcagctt
gaagatggacgcttcctgatgtctgctgagcgttacgacaaacttctccgagatcatacc
aaaaaagagttggattcttggaaaattgtccgagttagtgaaaatttccgagtgattgcc
ttgggcttgccagtgccaaggtattctgggaatccattagacccccctcttcgttctcga
tttcaagccagggatatttattatttacccttcaaggaccaacttaagttgttatattca
attggagccaatgtttctgctgagaaagtttctcagctcttgtcctttgccacaactctg
tgttcccaagaatcttctactcttggacttccagactttcctttagatagtttagcagct
gcggttcaaatcttggattcctttcctatgatgccaatcaaacatgcaatccagtggctt
tatccatatagtattttactaggtcatgaagggaagatggctgtggaaggtgttttaaag
cgctttgaacttcaagattcaggaagctctctacttcctaaagagattgtaaaagtagag
aagatgatggaaaaccatgtgtcccaagcttctgtgaccatccggattgcagataaagag
gtgaccattaaggtgccagccgggaccaggctattaagtcaaccttgtgcgtcagaccgt
ttcatacagactttgagccataagcagctacaggctgaaatgatgcagtctcacatggtt
aaagatatatgtttaattggaggaaagggttgtggaaaaacagtgatcgctaagaacttt
gccgataccttaggatacaacatagaacctattatgctctatcaggatatgacagcgcgt
gatctgctacagcagagatacacccttccaaatggagacactgcctggcggtcctcaccc
cttgtgaatgctgctctggaaggcaagctggtcctgctggatggcattcaccgggtgaat
gcgggcacgcttgctgtattgcaaaggttaatccatgatcgagagctaagcctctatgat
ggttctaggctgctgagagaagacaggtatatgcgtttaaaggaggagctgcaactgtct
gatgaacagctacagaagagatccatttttcctatccatccctccttcagaatcattgcc
ttggcagaaccccctgttattggaagcacagcacaccagtggctgggaccagaattctta
accatgttctttttccattacatgaaaccacttgtgaaaagtgaagaaatccaagtgatt
aaggaaaaggtcccaaatgtacctcaggaagctctggataagttattatcatttacacac
aaactcagagaaacacaggatccaacggcacaatcattagcggcatcactttctaccaga
caactgttgcgaatttctcgtcggctgtcacagtatcctaatgaaaatcttcacagtgct
gttactaaagcctgcctttccaggtttttacccagtcttgctaggtcagcattagaaaaa
aatctggcagatgctacaatagaaataaatactgatgacaatttggagccagaactgaag
gattacaaatgtgaagtaacatctggaactctgaggattggtgctgttagtgcaccgatc
tataatgcacatgagaaaatgaaagtgcctgatgttcttttctatgacaacattcagcat
gtgatagtgatggaagatatgctgaaagactttctccttggagaacacttattattggtt
ggcaaccagggtgtaggaaaaaacaagattgttgacagattccttcacctgctcaacaga
ccccgagaatatattcagctacacagggataccacagtacaaactcttacgcttcagcct
tcggttaaagacggacttattgtatatgaagactcacctttggttaaagcagtaaagttg
ggtcatattctggtagtagatgaggctgacaaagctccaacaaatgtcacgtgtatttta
aaaactctagtagaaaatggagaaatgattctagcagatggaagacgcattgttgcaaat
tctgctaatgtgaatggaagagaaaatgttgtagtgattcatcctgattttaggatgatt
gttctggcaaatagacctggatttcctttcctaggcaatgatttcttcggtaccttaggt
gatatttttagctgccatgcagttgataaccccaaaccccactcggagctcgagatgctc
agacagtatggaccaaatgtgcctgagcccatccttcagaagcttgtggctgcctttgga
gagctgaggagtttggctgaccaagggattattaactatccttattctaccagagaagtt
gtcaacatagtcaaacatttacagaaatttccgactgaaggtctctccagtgtagttcga
aatgtgtttgactttgattcctacaacaatgacatgagggagatattgattaacacttta
cacaaatacgggatacctatcggagcaaagcctaccagtgtgcagctggcaaaggagttg
actctgccagaacaaacgttcatgggctactggacaattggtcaggcaagaagtgggatg
caaaaactcttgtgtccagtggaaactcatcatatagacataaagggtccagcacttata
aatatacaggagtatccaatagaaagacatgaagaaagatccctaaactttactgaagaa
tgtgcctcatggagaataccattggatgaaattaatataatctgtgacattgctacatca
catgaaaatgagcaaaatactctctatgtagttacatgcaatcccgcttccctgtacttt
atgaatatgactgggaaaagtggcttctttgtggacttttttgatatcttcccaagaaca
gccaatggcgtttggcacccttttgtgacagtggcaccgctgggaagtcctctcaaaggt
caagtggttctccatgagcagcagagtaatgttatcctgttgttagatactactggccgg
gcccttcatcgtctcatcctcccttccgagaagtttacatctaagaaacctttctggtgg
aacaaagaagaagctgaaacttataaaatgtgtaaagaattttcacacaaaaactggctg
gtgttctacaaagaaaaagggaacagcctgactgtgctggatgttctagaagggcgaact
cacaccatctcacttcccatcaacctcaagacagttttccttgtagcagaggacaaatgg
cttctggtggagagcaaaacaaatcagaaatatcttttaactaagcctgcacacatcgaa
tctgagggtagtggggtttgccagttgtatgtgctgaaagaggagccgcccagcacaggg
tttggagttacacaagaaacagagttcagcatacctcataaaatttccagtgatcaacta
tcatctgaacatctaagttcagctgtggaacaaaagattgcctctcccaacagaattctc
tcagatgagaaaaattatgctacaatagttgttggttttccagatctcatgtcacccagt
gaagtttattcttggaagagaccatcatctttgcataaacgaagtggcactgatacatca
ttctatagaggaaagaagaaaagggggactccaaaacaaagcaattgtgtgactctttta
gatacgaatcaggtagtgaggattttacccccaggagaagtccctctaaaagatatctac
ccaaaagatgttactcctccacaaacatctggttatatagaagtcactgatcttcaatca
aagaaactccgatatatccctattcccagatcagaatctctctcgccgtataccacatgg
ctgtcgaccatttcagacacagatgcactgctggctgagtgggacaaaagcggtgttgtt
actgttgatatgggaggtcacatcaggctttgggaaactggacttgaacgtctgcagcga
tcactcatggaatggagaaacatgattggacaagatgacagaaatatgcagataacaatc
aacagagacagtggtgaagatgtaagctcccccaaacacgggaaggaggacccagacaac
atgcctcacgtgggcggcaacacttgggctggcggaacagggggaagagacacggcaggc
ctgggtggcaaaggaggcccttaccggctggatgcaggccatacggtgtaccaggtctct
caggctgagaaagatgcagttcccgaagaggtcaagagagctgctagagagatgggccag
agagcattccagcagaggctaaaggagatccaaatgagtgaatacgatgctgcaacctat
gaaaggttttcaggtgctgttcggcgacaggtgcactccctccgaatcatcctggataat
ttacaggctaaaggtaaagaaagacaatggctaagacatcaagctactggagaattagat
gatgccaagatcattgatgggctgactggagaaaaagccatctacaaacgtcggggtgag
ctggagccacaacttggcagcccacaacagaaacccaagcgtctgcgcctggtggtagat
gtgtctggtagcatgtaccgtttcaacaggatggatggccggcttgagcgcacaatggag
gctgtgtgtatggtcatggaagccttcgagaactatgaggagaagttccagtatgacatc
gttggacactctggagatggctacaacattggtctggttccaatgaacaaaatccccaag
gacaataagcaaagactagaaattctgaagacaatgcatgcccactctcagttctgcatg
agtggggaccacacgttagaagggacagaacatgccatcaaggaaattgtcaaagaagaa
gctgatgagtactttgtcatagtcttgagtgatgcaaatctgtcacgatatggaatacat
cctgctaagtttgctcaaatcctcacaagagaccctcaagtaaatgcttttgccattttt
attggctctttaggtgatcaagcaaccaggcttcagagaactttaccagctggtcggtct
ttcgttgccatggataccaaggatatccctcagattttacaacagatcttcacctccacc
atgttgtcgagtgtctaa

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