KEGG   Homo sapiens (human): 3064Help
Entry
3064              CDS       T01001                                 

Gene name
HTT, HD, IT15, LOMARS
Definition
(RefSeq) huntingtin
  KO
K04533  huntingtin
Organism
hsa  Homo sapiens (human)
Pathway
hsa05016  Huntington disease
Disease
H00059  Huntington disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05016 Huntington disease
    3064 (HTT)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   mRNA cycle factors
    Common to processing body (P body) and stress granule
     3064 (HTT)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Rab GTPases and associated proteins
   Rab associated proteins
    3064 (HTT)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Regulator of mitochondrial biogenesis
   Other regulator of mitochondrial biogenesis
    3064 (HTT)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: DUF3652 HEAT HEAT_2
Motif
Other DBs
NCBI-GeneID: 3064
NCBI-ProteinID: NP_002102
OMIM: 613004
HGNC: 4851
Ensembl: ENSG00000197386
Vega: OTTHUMG00000159916
Pharos: P42858(Tchem)
UniProt: P42858
Structure
PDB: 

Position
4p16.3
AA seq 3144 aa AA seqDB search
MATLEKLMKAFESLKSFQQQQQQQQQQQQQQQQQQQQQQQPPPPPPPPPPPQLPQPPPQA
QPLLPQPQPPPPPPPPPPGPAVAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSVRNS
PEFQKLLGIAMELFLLCSDDAESDVRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNG
APRSLRAALWRFAELAHLVRPQKCRPYLVNLLPCLTRTSKRPEESVQETLAAAVPKIMAS
FGNFANDNEIKVLLKAFIANLKSSSPTIRRTAAGSAVSICQHSRRTQYFYSWLLNVLLGL
LVPVEDEHSTLLILGVLLTLRYLVPLLQQQVKDTSLKGSFGVTRKEMEVSPSAEQLVQVY
ELTLHHTQHQDHNVVTGALELLQQLFRTPPPELLQTLTAVGGIGQLTAAKEESGGRSRSG
SIVELIAGGGSSCSPVLSRKQKGKVLLGEEEALEDDSESRSDVSSSALTASVKDEISGEL
AASSGVSTPGSAGHDIITEQPRSQHTLQADSVDLASCDLTSSATDGDEEDILSHSSSQVS
AVPSDPAMDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQP
QDEDEEATGILPDEASEAFRNSSMALQQAHLLKNMSHCRQPSDSSVDKFVLRDEATEPGD
QENKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSC
VGAAVALHPESFFSKLYKVPLDTTEYPEEQYVSDILNYIDHGDPQVRGATAILCGTLICS
ILSRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAVRNCVMSLC
SSSYSELGLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYT
GLLKLQERVLNNVVIHLLGDEDPRVRHVAAASLIRLVPKLFYKCDQGQADPVVAVARDQS
SVYLKLLMHETQPPSHFSVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTT
RALTFGCCEALCLLSTAFPVCIWSLGWHCGVPPLSASDESRKSCTVGMATMILTLLSSAW
FPLDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEVWPALGDRALVPMV
EQLFSHLLKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPL
SPKKGSEASAASRQSDTSGPVTTSKSSSLGSFYHLPSYLKLHDVLKATHANYKVTLDLQN
STEKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKT
LFGTNLASQFDGLSSNPSKSQGRAQRLGSSSVRPGLYHYCFMAPYTHFTQALADASLRNM
VQAEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLFEPLVIKALKQYTT
TTCVQLQKQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIF
FFLVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIPALQPIVHDLFVLRGTNKA
DAGKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQIADIILPML
AKQQMHIDSHEALGVLNTLFEILAPSSLRPVDMLLRSMFVTPNTMASVSTVQLWISGILA
ILRVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEEHSEGKQIKNLPEE
TFSRFLLQLVGILLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAA
ATRLFRSDGCGGSFYTLDSLNLRARSMITTHPALVLLWCQILLLVNHTDYRWWAEVQQTP
KRHSLSSTKLLSPQMSGEEEDSDLAAKLGMCNREIVRRGALILFCDYVCQNLHDSEHLTW
LIVNHIQDLISLSHEPPVQDFISAVHRNSAASGLFIQAIQSRCENLSTPTMLKKTLQCLE
GIHLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQSSMAQLPMEELNR
IQEYLQSSGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKD
WYVHLVKSQCWTRSDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLLAPCLSLGMSEISG
GQKSALFEAAREVTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSL
PTLARALAQYLVVVSKLPSHLHLPPEKEKDIVKFVVATLEALSWHLIHEQIPLSLDLQAG
LDCCCLALQLPGLWSVVSSTEFVTHACSLIYCVHFILEAVAVQPGEQLLSPERRTNTPKA
ISEEEEEVDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIIS
LARLPLVNSYTRVPPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEVFKEFIYRINTLGW
TSRTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPV
AGNPAVSCLEQQPRNKPLKALDTRFGRKLSIIRGIVEQEIQAMVSKRENIATHHLYQAWD
PVPSLSPATTGALISHEKLLLQINPERELGSMSYKLGQVSIHSVWLGNSITPLREEEWDE
EEEEEADAPAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILIS
EVVRSLLVVSDLFTERNQFELMYVTLTELRRVHPSEDEILAQYLVPATCKAAAVLGMDKA
VAEPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLLSNLKGIA
HCVNIHSQQHVLVMCATAFYLIENYPLDVGPEFSASIIQMCGVMLSGSEESTPSIIYHCA
LRGLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTCMYTGKEKVSPGRT
SDPNPAAPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVI
GEFLSNQQPYPQFMATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQRAPVAMATWSLSC
FFVSASTSPWVAAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEV
VAAPGSPYHRLLTCLRNVHKVTTC
NT seq 9435 nt NT seq  +upstreamnt  +downstreamnt
atggcgaccctggaaaagctgatgaaggccttcgagtccctcaagtccttccagcagcag
cagcagcagcagcagcagcagcagcagcagcagcagcagcagcagcagcagcagcaacag
ccgccaccgccgccgccgccgccgccgcctcctcagcttcctcagccgccgccgcaggca
cagccgctgctgcctcagccgcagccgcccccgccgccgcccccgccgccacccggcccg
gctgtggctgaggagccgctgcaccgaccaaagaaagaactttcagctaccaagaaagac
cgtgtgaatcattgtctgacaatatgtgaaaacatagtggcacagtctgtcagaaattct
ccagaatttcagaaacttctgggcatcgctatggaactttttctgctgtgcagtgatgac
gcagagtcagatgtcaggatggtggctgacgaatgcctcaacaaagttatcaaagctttg
atggattctaatcttccaaggttacagctcgagctctataaggaaattaaaaagaatggt
gcccctcggagtttgcgtgctgccctgtggaggtttgctgagctggctcacctggttcgg
cctcagaaatgcaggccttacctggtgaaccttctgccgtgcctgactcgaacaagcaag
agacccgaagaatcagtccaggagaccttggctgcagctgttcccaaaattatggcttct
tttggcaattttgcaaatgacaatgaaattaaggttttgttaaaggccttcatagcgaac
ctgaagtcaagctcccccaccattcggcggacagcggctggatcagcagtgagcatctgc
cagcactcaagaaggacacaatatttctatagttggctactaaatgtgctcttaggctta
ctcgttcctgtcgaggatgaacactccactctgctgattcttggcgtgctgctcaccctg
aggtatttggtgcccttgctgcagcagcaggtcaaggacacaagcctgaaaggcagcttc
ggagtgacaaggaaagaaatggaagtctctccttctgcagagcagcttgtccaggtttat
gaactgacgttacatcatacacagcaccaagaccacaatgttgtgaccggagccctggag
ctgttgcagcagctcttcagaacgcctccacccgagcttctgcaaaccctgaccgcagtc
gggggcattgggcagctcaccgctgctaaggaggagtctggtggccgaagccgtagtggg
agtattgtggaacttatagctggagggggttcctcatgcagccctgtcctttcaagaaaa
caaaaaggcaaagtgctcttaggagaagaagaagccttggaggatgactctgaatcgaga
tcggatgtcagcagctctgccttaacagcctcagtgaaggatgagatcagtggagagctg
gctgcttcttcaggggtttccactccagggtcagcaggtcatgacatcatcacagaacag
ccacggtcacagcacacactgcaggcggactcagtggatctggccagctgtgacttgaca
agctctgccactgatggggatgaggaggatatcttgagccacagctccagccaggtcagc
gccgtcccatctgaccctgccatggacctgaatgatgggacccaggcctcgtcgcccatc
agcgacagctcccagaccaccaccgaagggcctgattcagctgttaccccttcagacagt
tctgaaattgtgttagacggtaccgacaaccagtatttgggcctgcagattggacagccc
caggatgaagatgaggaagccacaggtattcttcctgatgaagcctcggaggccttcagg
aactcttccatggcccttcaacaggcacatttattgaaaaacatgagtcactgcaggcag
ccttctgacagcagtgttgataaatttgtgttgagagatgaagctactgaaccgggtgat
caagaaaacaagccttgccgcatcaaaggtgacattggacagtccactgatgatgactct
gcacctcttgtccattgtgtccgccttttatctgcttcgtttttgctaacagggggaaaa
aatgtgctggttccggacagggatgtgagggtcagcgtgaaggccctggccctcagctgt
gtgggagcagctgtggccctccacccggaatctttcttcagcaaactctataaagttcct
cttgacaccacggaataccctgaggaacagtatgtctcagacatcttgaactacatcgat
catggagacccacaggttcgaggagccactgccattctctgtgggaccctcatctgctcc
atcctcagcaggtcccgcttccacgtgggagattggatgggcaccattagaaccctcaca
ggaaatacattttctttggcggattgcattcctttgctgcggaaaacactgaaggatgag
tcttctgttacttgcaagttagcttgtacagctgtgaggaactgtgtcatgagtctctgc
agcagcagctacagtgagttaggactgcagctgatcatcgatgtgctgactctgaggaac
agttcctattggctggtgaggacagagcttctggaaacccttgcagagattgacttcagg
ctggtgagctttttggaggcaaaagcagaaaacttacacagaggggctcatcattataca
gggcttttaaaactgcaagaacgagtgctcaataatgttgtcatccatttgcttggagat
gaagaccccagggtgcgacatgttgccgcagcatcactaattaggcttgtcccaaagctg
ttttataaatgtgaccaaggacaagctgatccagtagtggccgtggcaagagatcaaagc
agtgtttacctgaaacttctcatgcatgagacgcagcctccatctcatttctccgtcagc
acaataaccagaatatatagaggctataacctactaccaagcataacagacgtcactatg
gaaaataacctttcaagagttattgcagcagtttctcatgaactaatcacatcaaccacc
agagcactcacatttggatgctgtgaagctttgtgtcttctttccactgccttcccagtt
tgcatttggagtttaggttggcactgtggagtgcctccactgagtgcctcagatgagtct
aggaagagctgtaccgttgggatggccacaatgattctgaccctgctctcgtcagcttgg
ttcccattggatctctcagcccatcaagatgctttgattttggccggaaacttgcttgca
gccagtgctcccaaatctctgagaagttcatgggcctctgaagaagaagccaacccagca
gccaccaagcaagaggaggtctggccagccctgggggaccgggccctggtgcccatggtg
gagcagctcttctctcacctgctgaaggtgattaacatttgtgcccacgtcctggatgac
gtggctcctggacccgcaataaaggcagccttgccttctctaacaaaccccccttctcta
agtcccatccgacgaaaggggaaggagaaagaaccaggagaacaagcatctgtaccgttg
agtcccaagaaaggcagtgaggccagtgcagcttctagacaatctgatacctcaggtcct
gttacaacaagtaaatcctcatcactggggagtttctatcatcttccttcatacctcaaa
ctgcatgatgtcctgaaagctacacacgctaactacaaggtcacgctggatcttcagaac
agcacggaaaagtttggagggtttctccgctcagccttggatgttctttctcagatacta
gagctggccacactgcaggacattgggaagtgtgttgaagagatcctaggatacctgaaa
tcctgctttagtcgagaaccaatgatggcaactgtttgtgttcaacaattgttgaagact
ctctttggcacaaacttggcctcccagtttgatggcttatcttccaaccccagcaagtca
caaggccgagcacagcgccttggctcctccagtgtgaggccaggcttgtaccactactgc
ttcatggccccgtacacccacttcacccaggccctcgctgacgccagcctgaggaacatg
gtgcaggcggagcaggagaacgacacctcgggatggtttgatgtcctccagaaagtgtct
acccagttgaagacaaacctcacgagtgtcacaaagaaccgtgcagataagaatgctatt
cataatcacattcgtttgtttgaacctcttgttataaaagctttaaaacagtacacgact
acaacatgtgtgcagttacagaagcaggttttagatttgctggcgcagctggttcagtta
cgggttaattactgtcttctggattcagatcaggtgtttattggctttgtattgaaacag
tttgaatacattgaagtgggccagttcagggaatcagaggcaatcattccaaacatcttt
ttcttcttggtattactatcttatgaacgctatcattcaaaacagatcattggaattcct
aaaatcattcagctctgtgatggcatcatggccagtggaaggaaggctgtgacacatgcc
ataccggctctgcagcccatagtccacgacctctttgtattaagaggaacaaataaagct
gatgcaggaaaagagcttgaaacccaaaaagaggtggtggtgtcaatgttactgagactc
atccagtaccatcaggtgttggagatgttcattcttgtcctgcagcagtgccacaaggag
aatgaagacaagtggaagcgactgtctcgacagatagctgacatcatcctcccaatgtta
gccaaacagcagatgcacattgactctcatgaagcccttggagtgttaaatacattattt
gagattttggccccttcctccctccgtccggtagacatgcttttacggagtatgttcgtc
actccaaacacaatggcgtccgtgagcactgttcaactgtggatatcgggaattctggcc
attttgagggttctgatttcccagtcaactgaagatattgttctttctcgtattcaggag
ctctccttctctccgtatttaatctcctgtacagtaattaataggttaagagatggggac
agtacttcaacgctagaagaacacagtgaagggaaacaaataaagaatttgccagaagaa
acattttcaaggtttctattacaactggttggtattcttttagaagacattgttacaaaa
cagctgaaggtggaaatgagtgagcagcaacatactttctattgccaggaactaggcaca
ctgctaatgtgtctgatccacatcttcaagtctggaatgttccggagaatcacagcagct
gccactaggctgttccgcagtgatggctgtggcggcagtttctacaccctggacagcttg
aacttgcgggctcgttccatgatcaccacccacccggccctggtgctgctctggtgtcag
atactgctgcttgtcaaccacaccgactaccgctggtgggcagaagtgcagcagaccccg
aaaagacacagtctgtccagcacaaagttacttagtccccagatgtctggagaagaggag
gattctgacttggcagccaaacttggaatgtgcaatagagaaatagtacgaagaggggct
ctcattctcttctgtgattatgtctgtcagaacctccatgactccgagcacttaacgtgg
ctcattgtaaatcacattcaagatctgatcagcctttcccacgagcctccagtacaggac
ttcatcagtgccgttcatcggaactctgctgccagcggcctgttcatccaggcaattcag
tctcgttgtgaaaacctttcaactccaaccatgctgaagaaaactcttcagtgcttggag
gggatccatctcagccagtcgggagctgtgctcacgctgtatgtggacaggcttctgtgc
acccctttccgtgtgctggctcgcatggtcgacatccttgcttgtcgccgggtagaaatg
cttctggctgcaaatttacagagcagcatggcccagttgccaatggaagaactcaacaga
atccaggaataccttcagagcagcgggctcgctcagagacaccaaaggctctattccctg
ctggacaggtttcgtctctccaccatgcaagactcacttagtccctctcctccagtctct
tcccacccgctggacggggatgggcacgtgtcactggaaacagtgagtccggacaaagac
tggtacgttcatcttgtcaaatcccagtgttggaccaggtcagattctgcactgctggaa
ggtgcagagctggtgaatcggattcctgctgaagatatgaatgccttcatgatgaactcg
gagttcaacctaagcctgctagctccatgcttaagcctagggatgagtgaaatttctggt
ggccagaagagtgccctttttgaagcagcccgtgaggtgactctggcccgtgtgagcggc
accgtgcagcagctccctgctgtccatcatgtcttccagcccgagctgcctgcagagccg
gcggcctactggagcaagttgaatgatctgtttggggatgctgcactgtatcagtccctg
cccactctggcccgggccctggcacagtacctggtggtggtctccaaactgcccagtcat
ttgcaccttcctcctgagaaagagaaggacattgtgaaattcgtggtggcaacccttgag
gccctgtcctggcatttgatccatgagcagatcccgctgagtctggatctccaggcaggg
ctggactgctgctgcctggccctgcagctgcctggcctctggagcgtggtctcctccaca
gagtttgtgacccacgcctgctccctcatctactgtgtgcacttcatcctggaggccgtt
gcagtgcagcctggagagcagcttcttagtccagaaagaaggacaaataccccaaaagcc
atcagcgaggaggaggaggaagtagatccaaacacacagaatcctaagtatatcactgca
gcctgtgagatggtggcagaaatggtggagtctctgcagtcggtgttggccttgggtcat
aaaaggaatagcggcgtgccggcgtttctcacgccattgctaaggaacatcatcatcagc
ctggcccgcctgccccttgtcaacagctacacacgtgtgcccccactggtgtggaagctt
ggatggtcacccaaaccgggaggggattttggcacagcattccctgagatccccgtggag
ttcctccaggaaaaggaagtctttaaggagttcatctaccgcatcaacacactaggctgg
accagtcgtactcagtttgaagaaacttgggccaccctccttggtgtcctggtgacgcag
cccctcgtgatggagcaggaggagagcccaccagaagaagacacagagaggacccagatc
aacgtcctggccgtgcaggccatcacctcactggtgctcagtgcaatgactgtgcctgtg
gccggcaacccagctgtaagctgcttggagcagcagccccggaacaagcctctgaaagct
ctcgacaccaggtttgggaggaagctgagcattatcagagggattgtggagcaagagatt
caagcaatggtttcaaagagagagaatattgccacccatcatttatatcaggcatgggat
cctgtcccttctctgtctccggctactacaggtgccctcatcagccacgagaagctgctg
ctacagatcaaccccgagcgggagctggggagcatgagctacaaactcggccaggtgtcc
atacactccgtgtggctggggaacagcatcacacccctgagggaggaggaatgggacgag
gaagaggaggaggaggccgacgcccctgcaccttcgtcaccacccacgtctccagtcaac
tccaggaaacaccgggctggagttgacatccactcctgttcgcagtttttgcttgagttg
tacagccgctggatcctgccgtccagctcagccaggaggaccccggccatcctgatcagt
gaggtggtcagatcccttctagtggtctcagacttgttcaccgagcgcaaccagtttgag
ctgatgtatgtgacgctgacagaactgcgaagggtgcacccttcagaagacgagatcctc
gctcagtacctggtgcctgccacctgcaaggcagctgccgtccttgggatggacaaggcc
gtggcggagcctgtcagccgcctgctggagagcacgctcaggagcagccacctgcccagc
agggttggagccctgcacggcgtcctctatgtgctggagtgcgacctgctggacgacact
gccaagcagctcatcccggtcatcagcgactatctcctctccaacctgaaagggatcgcc
cactgcgtgaacattcacagccagcagcacgtactggtcatgtgtgccactgcgttttac
ctcattgagaactatcctctggacgtagggccggaattttcagcatcaataatacagatg
tgtggggtgatgctgtctggaagtgaggagtccaccccctccatcatttaccactgtgcc
ctcagaggcctggagcgcctcctgctctctgagcagctctcccgcctggatgcagaatcg
ctggtcaagctgagtgtggacagagtgaacgtgcacagcccgcaccgggccatggcggct
ctgggcctgatgctcacctgcatgtacacaggaaaggagaaagtcagtccgggtagaact
tcagaccctaatcctgcagcccccgacagcgagtcagtgattgttgctatggagcgggta
tctgttctttttgataggatcaggaaaggctttccttgtgaagccagagtggtggccagg
atcctgccccagtttctagacgacttcttcccaccccaggacatcatgaacaaagtcatc
ggagagtttctgtccaaccagcagccatacccccagttcatggccaccgtggtgtataag
gtgtttcagactctgcacagcaccgggcagtcgtccatggtccgggactgggtcatgctg
tccctctccaacttcacgcagagggccccggtcgccatggccacgtggagcctctcctgc
ttctttgtcagcgcgtccaccagcccgtgggtcgcggcgatcctcccacatgtcatcagc
aggatgggcaagctggagcaggtggacgtgaaccttttctgcctggtcgccacagacttc
tacagacaccagatagaggaggagctcgaccgcagggccttccagtctgtgcttgaggtg
gttgcagccccaggaagcccatatcaccggctgctgacttgtttacgaaatgtccacaag
gtcaccacctgctga

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Ontology (4)   
   KEGG BRITE (4)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (55)   
   KEGG ORTHOLOGY (1)   
   RefGene (46)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (19)   
   RefSeq(nuc) (1)   
   GenBank (9)   
   EMBL (9)   
Protein domain (3)   
   Pfam (3)   
All databases (90)   

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