Homo sapiens (human): 200403
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Entry
200403 CDS
T01001
Symbol
VWA3B, SCAR22
Name
(RefSeq) von Willebrand factor A domain containing 3B
KO
K24509
von Willebrand factor A domain-containing protein 3
Organism
hsa
Homo sapiens (human)
Disease
H01891
Autosomal recessive spinocerebellar ataxias
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
200403 (VWA3B)
04990 Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
200403 (VWA3B)
Cilium and associated proteins [BR:
hsa03037
]
Motile cilia and associated proteins
Other motile cilia associated proteins
200403 (VWA3B)
Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
Von Willebrand domain-containing proteins
VWA domain-containing proteins
200403 (VWA3B)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
DUF4537
VWA_3
VWA
VWA_2
Motif
Other DBs
NCBI-GeneID:
200403
NCBI-ProteinID:
NP_659429
OMIM:
614884
HGNC:
28385
Ensembl:
ENSG00000168658
UniProt:
Q502W6
LinkDB
All DBs
Position
2:98087167..98330616
Genome browser
AA seq
1294 aa
AA seq
DB search
MEKSGPSSTISEQQLQRQEGWINTKTDLAEQSLISSEKWLQLHGLKSNKLTLKQILSQIG
FPHCEDYVASLGRPVASRYADGLFPQLYRAEDGRVYNLTAKSELIYQFVEHLTQAVESYK
QRMDWLTSKSRQIFGVILEQCVTIVLDFGGILEGELDLCREALTMVLQEQVAHITEFNII
RVSQEPVKWQENATPVTEQSIATAISWVEKLTVELTVSEAGRLDALLEAGRDKTIESIYY
FVVGDVPEESKELLLQRALEIPCPVYTVSFNARGEGTIAFLKDLSAKTHSRFHAFAERTE
CVEFPAFSTKDGDNVMTWNSRKLKGKLPPGAGVREDVFLVWQEMEEACSTLAQIQRLVAE
PPKPDVATVDCESETTSVEIASNPEDTWDSKTWLQKYGLKAQKLSLYDVLADCSFRHADG
VVDIKAKPENESVQTSAETNKKTVHAKYCSRFVHAPWKDGSLVHVNITKEKCKWYSERIH
TALARIRRRIKWLQDGSQSLFGRLHNDCIYILIDTSHSMKSKLDLVKDKIIQFIQEQLKY
KSKFNFVKFDGQAVAWREQLAEVNEDNLEQAQSWIRDIKIGSSTNTLSALKTAFADKETQ
AIYLLTDGRPDQPPETVIDQVKRFQEIPIYTISFNYNDEIANRFLKEVAALTGGEFHFYN
FGCKDPTPPEAVQNEDLTLLVKEMEQGHSDLEKMQDLYSESLIMDWWYNAEKDGDSKHQK
EICSMISTPEKCAKPQSDVDSTQTSSLNMLKGPWGLSDQKVQKKKVLHAESTKTSLLRSQ
MSSLRSSACSERKDGLSNASSRRTALSDKEMSILLAEEWLDDKSSEKVTREGSQVYDHDS
SDVSSENWLKTYGLVAKKLTLMDALSVAAVPHSSTYVPVLDKHVVSKVFDEVFPLAHVCN
DTNKMTLINPQGAKLNIYKRKVEQAIQSYEKRLNKIVWRALSQEEKEKLDANKPIQYLEN
KTVLNQALERLNWPISLKELSMLESEILAGKMYIQQAMELQEAAKKNYANKAPGEQQKLQ
GNPTKKTKSKRPDPLKGQKVIARCDENGFYFPGVVKKCVSRTQALVGFSYGDTKVVSTSF
ITPVGGAMPCPLLQVGDYVFAKIVIPKGFDFYVPAIVIALPNKHVATEKFYTVLKCNNRR
EFCPRSALIKISQNKYALSCSHIKSPPIPEDPEVEDVEARNSAFLFWPLKEADTQDSREP
RREKPRRKKRPAKQPLQQAAPSDSDGSSHGISSHGSCQGTHPEPRTAHLHFPAAGRLGLS
SHAIIATPPPRAALPCTLQATHSSKGLRSVPETL
NT seq
3885 nt
NT seq
+upstream
nt +downstream
nt
atggagaaatcaggcccatcttctaccatctctgagcagcagctgcagaggcaagaggga
tggattaacaccaaaacagacttggctgagcagagtctcatttcatctgagaaatggctt
caactgcatgggcttaagagcaacaaattgaccttgaaacagattttgtcacagatcgga
ttcccacattgtgaagattatgtggcgtctctggggagacctgtggcttctcggtatgct
gatggtctgtttccacagctctacagagcagaagatggcagagtatacaatctgacagct
aaatcagaactgatttatcagtttgtggaacatttaacacaagctgtggagagctacaag
cagcgaatggactggctcaccagcaagagccggcagatttttggtgtcatcttggaacag
tgcgtcaccatagtgctggattttggcggcattctggagggggagcttgatctgtgccga
gaggctctaacaatggttctccaggagcaggtggctcacataaccgagttcaatatcata
cgggtttctcaagagcctgtgaagtggcaggaaaatgctactcctgtgaccgaacagtcc
atagctactgccatcagttgggttgagaaactgacggttgagctgactgtgagcgaggct
ggccgcctggatgctctgctggaagccgggagagacaagactattgaatccatttactac
tttgtggtgggggatgttcctgaagaatccaaggagcttctcctccagagggccttggag
atcccgtgtccagtctacacagtgtccttcaacgccagaggagaaggcactatagctttt
ctaaaggatctgagtgccaagacccacagcagattccacgcatttgccgagagaacagag
tgtgtagaatttcctgcattctccacaaaggatggtgacaatgtgatgacttggaattca
aggaaactgaaaggaaaactccctccaggagctggagtcagagaggacgtgtttctcgtt
tggcaagagatggaggaagcctgcagcacgctggcccagatccagaggctggtggccgag
cctcccaagcccgacgtggccactgtggactgcgagtcagaaacaacctctgttgagatt
gcatcgaatccagaagacacctgggactctaagacatggctgcagaaatatggcttgaag
gcccagaagctatccttgtatgatgtgcttgccgactgctctttccgccacgctgatggg
gttgtggatataaaagccaaaccggagaatgagtccgtgcagaccagtgcggagacgaac
aagaagacagtccatgcaaaatattgcagcaggtttgtccatgctccctggaaggatggg
agcttggtccacgtcaacattaccaaagagaagtgcaagtggtacagtgagagaatccac
acagccctggcccggatccgaaggaggattaaatggctacaggatgggagtcaaagcctc
tttggaagattgcataatgattgcatctacattctcattgacacgtctcactcaatgaag
agcaaactggacttggtgaaggacaagatcattcagttcatacaggaacagctgaaatat
aaaagtaagtttaactttgtgaagtttgatggtcaagcagttgcttggcgggaacaactt
gctgaagtcaatgaagataatttggaacaggctcagtcctggattagagacataaagatt
ggaagctccacaaacaccctgagtgccctgaaaactgcttttgctgataaagaaacacag
gcaatctaccttctgaccgatgggagacctgatcagccacctgaaacagttatagaccag
gtcaaacgttttcaggaaattcctatttataccatctccttcaattacaatgatgagatt
gcaaacaggtttttgaaagaggttgctgctttgactggaggagagttccatttttataat
tttggttgcaaggatcccactcccccagaggctgttcagaatgaagatctgactctttta
gttaaggaaatggaacagggtcacagtgatctggagaagatgcaagacctttattctgag
tccttgatcatggactggtggtacaatgcagaaaaggatggagacagcaagcatcaaaag
gaaatctgttctatgatttcaaccccagaaaagtgtgcaaagcctcaatctgatgtcgat
tcaacacaaacttcatctctgaatatgttgaagggaccatggggcctttcagatcaaaag
gttcagaaaaagaaagtccttcacgcagaatcaaccaaaaccagcctgctcagaagccag
atgtcctccctcaggagctcagcttgcagtgaaaggaaggatggcctctccaatgccagc
agccggaggactgctctaagtgacaaagaaatgagcatcttgctggctgaggagtggctg
gatgacaaatcgtcagaaaaggtgacgcgagaaggaagccaggtttatgaccacgattct
tcagatgtgtcttcagaaaactggctgaagacctatggcttggtcgccaagaaactcacc
ctcatggatgccttgtcagtggcagcagtcccgcacagctccacctatgttcccgtcctg
gacaagcatgtcgtgtctaaggtctttgatgaggtgttccctctggcacatgtgtgcaac
gacacaaataagatgacattaattaacccccaaggagccaaactcaatatctacaagcga
aaagtggaacaggcaattcaatcctatgaaaagcgcttgaataaaattgtttggcgagca
ttatctcaagaggaaaaagaaaagttagatgcaaacaaaccaatacagtacttggaaaac
aaaacagttttaaaccaggctttagaacggttgaattggcccatttcactgaaagagctg
tcgatgctggaaagtgaaatcctagctgggaaaatgtacatccagcaggccatggaactc
caggaggctgccaagaagaattatgcaaacaaggccccgggagagcaacagaaattgcaa
ggaaatccaacaaagaaaaccaaatcaaaaagaccagatcccctcaaaggacagaaggtt
attgcaagatgtgatgaaaatggcttttattttccaggggttgtgaagaagtgtgtgagc
cgcacccaagcactggtgggcttcagttacggagacaccaaggtcgtgtccacctccttc
atcacgcctgtggggggcgccatgccctgcccgctgctccaggttggagattatgtgttt
gccaaaattgtgatacccaaaggatttgacttctatgtccctgccattgtcatagcactt
cccaataagcatgtggccacagaaaaattctacacagttttgaagtgtaacaaccggaga
gaattttgccctcggagtgcacttattaagatcagccaaaacaagtatgcgctctcttgc
tctcatataaagtcacccccaattcctgaggatccagaagtagaggatgtggaggcgagg
aactctgctttcctcttctggccactgaaagaagcggacacgcaggattccagagagcca
agacgagagaagcccaggaggaaaaagaggcccgccaagcagccactccagcaggcggcg
ccctcggactcggacggctcctcccacggcatcagctcccatgggtcctgccaggggaca
caccccgagcccaggacagcccacctccacttccccgcggccgggcgtctaggactcagc
agccacgccatcattgccacacctccacctcgagcagccctgccctgtactctccaagcc
acccacagcagcaaagggctgaggagcgtccctgagacactttaa
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