| Entry |
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| Symbol |
DST, BP240, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBS3, EBSB2, HSAN6, MACF2
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| Name |
(RefSeq) dystonin isoform 1e precursor
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| KO |
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| Organism |
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| Pathway |
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| Network |
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| Element |
| N01836 | Microtubule plus end regulation network |
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| Disease |
| H00265 | Hereditary sensory and autonomic neuropathy |
| H00584 | Epidermolysis bullosa simplex |
| H00865 | Lethal congenital contractural syndrome |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09150 Organismal Systems
09158 Development and regeneration
04382 Cornified envelope formation
667 (DST)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04812 Cytoskeleton proteins [BR:hsa04812]
667 (DST)
Cytoskeleton proteins [BR:hsa04812]
Eukaryotic cytoskeleton proteins
Intermediate filaments
Intermediate filament-binding proteins
667 (DST)
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| SSDB |
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| Motif |
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| Other DBs |
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| Structure |
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| LinkDB |
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| Position |
6:complement(56457996..56954830)
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| AA seq |
2649 aa
MHSSSYSYRSSDSVFSNTTSTRTSLDSNENLLLVHCGPTLINSCISFGSESFDGHRLEML
QQIANRVQRDSVICEDKLILAGNALQSDSKRLESGVQFQNEAEIAGYILECENLLRQHVI
DVQILIDGKYYQADQLVQRVAKLRDEIMALRNECSSVYSKGRILTTEQTKLMISGITQSL
NSGFAQTLHPSLTSGLTQSLTPSLTSSSMTSGLSSGMTSRLTPSVTPAYTPGFPSGLVPN
FSSGVEPNSLQTLKLMQIRKPLLKSSLLDQNLTEEEINMKFVQDLLNWVDEMQVQLDRTE
WGSDLPSVESHLENHKNVHRAIEEFESSLKEAKISEIQMTAPLKLTYAEKLHRLESQYAK
LLNTSRNQERHLDTLHNFVSRATNELIWLNEKEEEEVAYDWSERNTNIARKKDYHAELMR
ELDQKEENIKSVQEIAEQLLLENHPARLTIEAYRAAMQTQWSWILQLCQCVEQHIKENTA
YFEFFNDAKEATDYLRNLKDAIQRKYSCDRSSSIHKLEDLVQESMEEKEELLQYKSTIAN
LMGKAKTIIQLKPRNSDCPLKTSIPIKAICDYRQIEITIYKDDECVLANNSHRAKWKVIS
PTGNEAMVPSVCFTVPPPNKEAVDLANRIEQQYQNVLTLWHESHINMKSVVSWHYLINEI
DRIRASNVASIKTMLPGEHQQVLSNLQSRFEDFLEDSQESQVFSGSDITQLEKEVNVCKQ
YYQELLKSAEREEQEESVYNLYISEVRNIRLRLENCEDRLIRQIRTPLERDDLHESVFRI
TEQEKLKKELERLKDDLGTITNKCEEFFSQAAASSSVPTLRSELNVVLQNMNQVYSMSST
YIDKLKTVNLVLKNTQAAEALVKLYETKLCEEEAVIADKNNIENLISTLKQWRSEVDEKR
QVFHALEDELQKAKAISDEMFKTYKERDLDFDWHKEKADQLVERWQNVHVQIDNRLRDLE
GIGKSLKYYRDTYHPLDDWIQQVETTQRKIQENQPENSKTLATQLNQQKMLVSEIEMKQS
KMDECQKYAEQYSATVKDYELQTMTYRAMVDSQQKSPVKRRRMQSSADLIIQEFMDLRTR
YTALVTLMTQYIKFAGDSLKRLEEEEIKRCKETSEHGAYSDLLQRQKATVLENSKLTGKI
SELERMVAELKKQKSRVEEELPKVREAAENELRKQQRNVEDISLQKIRAESEAKQYRREL
ETIVREKEAAERELERVRQLTIEAEAKRAAVEENLLNFRNQLEENTFTRRTLEDHLKRKD
LSLNDLEQQKNKLMEELRRKRDNEEELLKLIKQMEKDLAFQKQVAEKQLKEKQKIELEAR
RKITEIQYTCRENALPVCPITQATSCRAVTGLQQEHDKQKAEELKQQVDELTAANRKAEQ
DMRELTYELNALQLEKTSSEEKARLLKDKLDETNNTLRCLKLELERKDQAEKGYSQQLRE
LGRQLNQTTGKAEEAMQEASDLKKIKRNYQLELESLNHEKGKLQREVDRITRAHAVAEKN
IQHLNSQIHSFRDEKELERLQICQRKSDHLKEQFEKSHEQLLQNIKAEKENNDKIQRLNE
ELEKSNECAEMLKQKVEELTRQNNETKLMMQRIQAESENIVLEKQTIQQRCEALKIQADG
FKDQLRSTNEHLHKQTKTEQDFQRKIKCLEEDLAKSQNLVSEFKQKCDQQNIIIQNTKKE
VRNLNAELNASKEEKRRGEQKVQLQQAQVQELNNRLKKVQDELHLKTIEEQMTHRKMVLF
QEESGKFKQSAEEFRKKMEKLMESKVITENDISGIRLDFVSLQQENSRAQENAKLCETNI
KELERQLQQYREQMQQGQHMEANHYQKCQKLEDELIAQKREVENLKQKMDQQIKEHEHQL
VLLQCEIQKKSTAKDCTFKPDFEMTVKECQHSGELSSRNTGHLHPTPRSPLLRWTQEPQP
LEEKWQHRVVEQIPKEVQFQPPGAPLEKEKSQQCYSEYFSQTSTELQITFDETNPITRLS
EIEKIRDQALNNSRPPVRYQDNACEMELVKVLTPLEIAKNKQYDMHTEVTTLKQEKNPVP
SAEEWMLEGCRASGGLKKGDFLKKGLEPETFQNFDGDHACSVRDDEFKFQGLRHTVTARQ
LVEAKLLDMRTIEQLRLGLKTVEEVQKTLNKFLTKATSIAGLYLESTKEKISFASAAERI
IIDKMVALAFLEAQAATGFIIDPISGQTYSVEDAVLKGVVDPEFRIRLLEAEKAAVGYSY
SSKTLSVFQAMENRMLDRQKGKHILEAQIASGGVIDPVRGIRVPPEIALQQGLLNNAILQ
FLHEPSSNTRVFPNPNNKQALYYSELLRMCVFDVESQCFLFPFGERNISNLNVKKTHRIS
VVDTKTGSELTVYEAFQRNLIEKSIYLELSGQQYQWKEAMFFESYGHSSHMLTDTKTGLH
FNINEAIEQGTIDKALVKKYQEGLITLTELADSLLSRLVPKKDLHSPVAGYWLTASGERI
SVLKASRRNLVDRITALRCLEAQVSTGGIIDPLTGKKYRVAEALHRGLVDEGFAQQLRQC
ELVITGIGHPITNKMMSVVEAVNANIINKEMGIRCLEFQYLTGGLIEPQVHSRLSIEEAL
QVGIIDVLIATKLKDQKSYVRNIICPQTKRKLTYKEALEKADFDFHTGLKLLEVSEPLMT
GISSLYYSS |
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| NT seq |
7950 nt +upstreamnt +downstreamnt
atgcacagtagtagttatagttaccgtagcagtgattctgtgtttagtaacactaccagc
actcgaaccagtcttgattcaaatgaaaatcttctcttggttcattgtggtccaacactg
atcaactcttgcattagcttcggcagtgaatcctttgatggacacaggttagaaatgttg
caacagattgccaacagagttcagagggacagtgtcatctgtgaagacaaactgattctt
gctggaaatgctcttcagtctgattctaaaagattagaatcaggagtgcagtttcagaat
gaagcagaaattgctgggtatatacttgaatgtgagaaccttttacgccagcatgtaatt
gatgtacagattcttattgatggaaaatactaccaggcagatcaattggtacagagggtt
gcaaaactgcgtgacgaaattatggccttaaggaacgaatgttcttctgtgtacagcaaa
ggacgcatactgacaacagaacagacaaagctcatgatatcaggaatcactcaaagttta
aactcaggatttgcacagaccttacaccctagtctgacctcagggctgacccagagttta
acaccttccctaacctcttctagtatgacttctggcctgtcatcagggatgacttcccgc
ctgactccatctgtcactccagcttatacacctggtttcccatcaggattagttccaaat
ttcagttcaggagtagagccaaattcattgcaaactttgaagttgatgcagatccgaaaa
ccccttctaaagtcttctttgctggatcaaaatttaacagaagaagaaatcaatatgaaa
tttgttcaggatcttttgaattgggttgatgagatgcaggtacaactggaccgcactgag
tggggctcagatttgccaagtgttgaaagccatttagaaaatcataaaaatgttcataga
gctattgaagaatttgaatctagtctcaaagaagctaaaatcagtgagattcaaatgaca
gcacctcttaaactgacttatgcagaaaagttgcacagattagagagtcagtatgcaaaa
ctcttgaatacatccaggaatcaagaacggcaccttgatacactccataattttgtaagt
cgtgcgactaatgaacttatttggttgaatgaaaaagaagaggaggaagttgcttatgac
tggagtgagagaaacaccaacatagctaggaaaaaagattatcatgctgaattaatgaga
gaacttgatcaaaaggaagaaaatattaaatcagttcaggagatagcagagcagctactt
ctagaaaatcatccagcccggttaactattgaggcctacagagcggcaatgcagacgcag
tggagctggatcttacagctctgccagtgtgtggagcagcacataaaggagaacacagcg
tatttcgagtttttcaatgatgccaaagaagctactgattacttaaggaatctaaaagat
gccattcagcggaagtacagctgtgatagatcaagcagcattcacaagctagaagacctt
gttcaggaatcaatggaagagaaagaagaacttctgcagtacaaaagcactatagcaaac
ctaatgggaaaagcaaaaacaataattcaactgaagccaaggaattctgactgtccactc
aaaacttctattccgatcaaagctatctgtgactacagacaaattgagataaccatttac
aaagacgatgaatgtgttttggcgaataactctcatcgtgctaaatggaaggtcattagt
cctactgggaatgaggctatggtcccatctgtgtgcttcaccgttcctccaccaaacaaa
gaagcggtggaccttgccaacagaattgagcaacagtatcagaatgtcctgactctttgg
catgagtctcacataaacatgaagagtgtagtatcctggcattatctcatcaatgaaatt
gatagaattcgagctagcaatgtggcttcaataaagacaatgctacctggtgaacatcag
caagttctaagtaatctacaatctcgttttgaagattttctggaagatagccaggaatcc
caagtcttttcaggctcagatataacacaactggaaaaggaggttaatgtatgtaagcag
tattatcaagaacttcttaaatctgcagaaagagaggagcaagaggaatcagtttataat
ctctacatctctgaagttcgaaacattagacttcggttagagaactgtgaagatcggctg
attagacagattcgaactcccctggaaagagatgatttgcatgaaagtgtgttcagaatc
acagaacaggagaaactaaagaaagagctggaacgacttaaagatgatttgggaacaatc
acaaataagtgtgaggagtttttcagtcaagcagcagcctcttcatcagtccctacccta
cgatcagagcttaatgtggtccttcagaacatgaaccaagtctattctatgtcttccact
tacatagataagttgaaaactgttaacttggtgttaaaaaacactcaagctgcagaagcc
ctcgtaaaactctatgaaactaaactgtgtgaagaagaagcagttatagctgacaagaat
aatattgagaatctaataagtactttaaagcaatggagatctgaagtagatgaaaagaga
caggtattccatgccttagaggatgagttgcagaaagctaaagccatcagtgatgaaatg
tttaaaacgtataaagaacgggaccttgattttgactggcacaaagaaaaagcagatcaa
ttagttgaaaggtggcaaaatgttcatgtgcagattgacaacaggttacgggacttagag
ggcattggcaaatcactgaagtactacagagacacttaccatcctttagatgattggatc
cagcaggttgaaactactcagagaaagattcaggaaaatcagcctgaaaatagtaaaacc
ctagccacacagttgaatcaacagaagatgctggtgtccgaaatagaaatgaaacagagc
aaaatggacgagtgtcaaaaatatgcagaacagtactcagctacagtgaaggactatgaa
ttacaaacaatgacctaccgggccatggtagattcacaacaaaaatctccagtgaaacgc
cgaagaatgcagagttcagcagatctcattattcaagagttcatggacctaaggactcga
tatactgccctggtcactctcatgacacaatatattaaatttgctggtgattcattgaag
aggctggaagaggaggagattaaaaggtgtaaggagacttctgaacatggggcatattca
gatctgcttcagcgtcagaaggcaacagtgcttgagaatagcaaacttacaggaaagata
agtgagttggaaagaatggtagctgaactaaagaaacaaaagtcccgagtagaggaagaa
cttccgaaggtcagggaggctgcagaaaatgaattgagaaagcagcagagaaatgtagaa
gatatctctctgcagaagataagggctgaaagtgaagccaagcagtaccgcagggaactt
gaaaccattgtgagagagaaggaagccgctgaaagagaactggagcgggtgaggcagctc
accatagaggccgaggctaaaagagctgccgtggaagagaacctcctgaattttcgcaat
cagttggaggaaaacacctttaccagacgaacactggaagatcatcttaaaagaaaagat
ttaagtctcaatgatttggagcaacaaaaaaataaattaatggaagaattaagaagaaag
agagacaatgaggaagaactcttgaagctgataaagcagatggaaaaagaccttgcattt
cagaaacaggtagcagagaaacagttgaaagaaaagcagaaaattgaattggaagcaaga
agaaaaataactgaaattcagtatacatgtagagaaaatgcattgccagtgtgtccgatc
acacaggctacatcatgcagggcagtaacgggtctccagcaagaacatgacaagcagaaa
gcagaagaactcaaacagcaggtagatgaactaacagctgccaatagaaaggctgaacaa
gacatgagagagctgacatatgaacttaatgccctccagcttgaaaaaacgtcatctgag
gaaaaggctcgtttgctaaaagataaactagatgaaacaaataatacactcagatgcctt
aagttggagctggaaaggaaggatcaggcggagaaagggtattctcaacaactcagagag
cttggtaggcaattgaatcaaaccacaggtaaagctgaagaagccatgcaagaagctagt
gatctcaagaaaataaagcgcaattatcagttagaattagaatctcttaatcatgaaaaa
gggaaactacaaagagaagtagacagaatcacaagggcacatgctgtagctgagaagaat
attcagcatttaaattcacaaattcattcttttcgagatgagaaagaattagaaagacta
caaatctgccagagaaaatcagatcatctaaaagaacaatttgagaaaagccatgagcag
ttgcttcaaaatatcaaagctgaaaaagaaaataatgataaaatccaaaggctcaatgaa
gaattggagaaaagtaatgagtgtgcagagatgctaaaacaaaaagtagaggagcttact
aggcagaataatgaaaccaaattaatgatgcagagaattcaggcagaatcagagaatata
gttttagagaaacaaactatccagcaaagatgtgaagcactgaaaattcaggcagatggt
tttaaagatcagctacgcagcacaaatgaacacttgcataaacagacaaaaacagagcag
gattttcaaagaaaaattaaatgcctagaagaagacctggcgaaaagtcaaaatttggta
agtgaatttaagcaaaagtgtgaccaacagaacattatcatccagaataccaagaaagaa
gttagaaatctgaatgcggaactgaatgcttccaaagaagagaagcgacgcggggagcag
aaagttcagctacaacaagctcaggtgcaagagttaaataacaggttgaaaaaagtacaa
gacgaattacacttaaagaccatagaggagcagatgacccacagaaagatggttctgttt
caggaagaatctggtaaattcaaacaatcagcagaggagtttcggaagaagatggaaaaa
ttaatggagtccaaagtcatcactgaaaatgatatttcaggcattaggcttgactttgtg
tctcttcaacaagaaaactctagagcccaagaaaatgctaagctttgtgaaacaaacatt
aaagaacttgaaagacagcttcaacagtatcgtgaacaaatgcagcaagggcagcacatg
gaagcaaatcattaccaaaaatgtcagaaacttgaggatgagctgatagcccagaagcgt
gaggttgaaaacctgaagcaaaaaatggaccaacagatcaaagagcatgaacatcaatta
gttttgctccagtgtgaaattcaaaaaaagagcacagccaaagactgtaccttcaaacca
gattttgagatgacagtgaaggagtgccagcactctggagagctgtcctctagaaacact
ggacaccttcacccaacacccagatcccctctgttgagatggactcaagaaccacagcca
ttggaagagaagtggcagcatcgggttgttgaacagatacccaaagaagtccaattccag
ccaccaggggctccactcgagaaagagaaaagccagcagtgttactctgagtacttttct
cagacaagcaccgagttacagataacttttgatgagacaaaccccattacaagactgtct
gaaattgagaagataagagaccaagccctgaacaattctagaccacctgttaggtatcaa
gataacgcatgtgaaatggaactggtgaaggttttgacacccttagagatagctaagaac
aagcagtatgatatgcatacagaagtcacaacattaaaacaagaaaagaacccagttccc
agtgctgaagaatggatgcttgaagggtgcagagcatctggtggactcaagaaaggggat
ttccttaagaagggcttagaaccagagaccttccagaactttgatggtgatcatgcatgt
tcagtcagggatgatgaatttaaattccaagggcttaggcacactgtgactgccaggcag
ttggtggaagctaagcttctggacatgagaacaattgagcagctgcgactcggtcttaag
actgttgaagaagttcagaaaactcttaacaagtttctgacgaaagccacctcaattgca
gggctttacctagaatctacaaaagaaaagatttcatttgcctcagcggccgagagaatc
ataatagacaaaatggtggctttggcatttttagaagctcaggctgcaacaggttttata
attgatcccatttcaggtcagacatattctgttgaagatgcagttcttaaaggagttgtt
gaccccgaattcagaattaggcttcttgaggcagagaaggcagctgtgggatattcttat
tcttctaagacattgtcagtgtttcaagctatggaaaatagaatgcttgacagacaaaaa
ggtaaacatatcttggaagcccagattgccagtgggggtgtcattgaccctgtgagaggc
attcgtgttcctccagaaattgctctgcagcaggggttgttgaataatgccatcttacag
tttttacatgagccatccagcaacacaagagttttccctaatcccaataacaagcaagct
ctgtattactcagaattactgcgaatgtgtgtatttgatgtagagtcccaatgctttctg
tttccatttggggagaggaacatttccaatctcaatgtcaagaaaacacatagaatttct
gtagtagatactaaaacaggatcagaattgaccgtgtatgaggctttccagagaaacctg
attgagaaaagtatatatcttgaactttcagggcagcaatatcagtggaaggaagctatg
ttttttgaatcctatgggcattcttctcatatgctgactgatactaaaacaggattacac
ttcaatattaatgaggctatagagcagggaacaattgacaaagccttggtcaaaaagtat
caggaaggcctcatcacacttacagaacttgctgattctttgctgagccggttagtcccc
aagaaagatttgcacagtcctgttgcagggtattggctgactgctagtggggaaaggatc
tctgtactaaaagcctcccgtagaaatttggttgatcggattactgccctccgatgcctt
gaagcccaagtcagtacagggggcataattgatcctcttactggcaaaaagtaccgggtg
gccgaagctttgcatagaggcctggttgatgaggggtttgcccagcagctgcgacagtgt
gaattagtaatcacagggattggccatcccatcactaacaaaatgatgtcagtggtggaa
gctgtgaatgcaaatattataaataaggaaatgggaatccgatgtttggaatttcagtac
ttgacaggagggttgatagagccacaggttcactctcggttatcaatagaagaggctctc
caagtaggtattatagatgtcctcattgccacaaaactcaaagatcaaaagtcatatgtc
agaaatataatatgccctcagacaaaaagaaagttgacatataaagaagccttagaaaaa
gctgattttgatttccacacaggacttaaactgttagaagtatctgagcccctgatgaca
ggaatttctagcctctactattcttcctaa |
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