Entry |
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Symbol |
MYO3A, DFNA90, DFNB30
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Name |
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KO |
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Organism |
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Pathway |
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Disease |
H00604 | Deafness, autosomal dominant |
H00605 | Deafness, autosomal recessive |
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Brite |
KEGG Orthology (KO) [BR:hsa00001]
09140 Cellular Processes
09142 Cell motility
04814 Motor proteins
53904 (MYO3A)
09180 Brite Hierarchies
09181 Protein families: metabolism
01001 Protein kinases [BR:hsa01001]
53904 (MYO3A)
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:hsa03037]
53904 (MYO3A)
04812 Cytoskeleton proteins [BR:hsa04812]
53904 (MYO3A)
Enzymes [BR:hsa01000]
2. Transferases
2.7 Transferring phosphorus-containing groups
2.7.11 Protein-serine/threonine kinases
2.7.11.1 non-specific serine/threonine protein kinase
53904 (MYO3A)
Protein kinases [BR:hsa01001]
Serine/threonine kinases: STE group
STE20 family
53904 (MYO3A)
Cilium and associated proteins [BR:hsa03037]
Other cilia and associated proteins
Stereociliary proteins
53904 (MYO3A)
Cytoskeleton proteins [BR:hsa04812]
Eukaryotic cytoskeleton proteins
Actin filaments / Microfilaments
Actin-binding proteins
Myosins
53904 (MYO3A)
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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 |
10:25934229..26212532
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AA seq |
1616 aa
MFPLIGKTIIFDNFPDPSDTWEITETIGKGTYGKVFKVLNKKNGQKAAVKILDPIHDIDE
EIEAEYNILKALSDHPNVVRFYGIYFKKDKVNGDKLWLVLELCSGGSVTDLVKGFLKRGE
RMSEPLIAYILHEALMGLQHLHNNKTIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRH
RRNTSVGTPFWMAPEVIACEQQLDTTYDARCDTWSLGITAIELGDGDPPLADLHPMRALF
KIPRNPPPKLRQPELWSAEFNDFISKCLTKDYEKRPTVSELLQHKFITQIEGKDVMLQKQ
LTEFIGIHQCMGGTEKARRERIHTKKGNFNRPLISNLKDVDDLATLEILDENTVSEQLEK
CYSRDQIYVYVGDILIALNPFQSLGLYSTKHSKLYIGSKRTASPPHIFAMADLGYQSMIT
YNSDQCIVISGESGAGKTENAHLLVQQLTVLGKANNRTLQEKILQVNNLVEAFGNACTII
NDNSSRFGKYLEMKFTSSGAVVGAQISEYLLEKSRVIHQAIGEKNFHIFYYIYAGLAEKK
KLAHYKLPENKPPRYLQNDHLRTVQDIMNNSFYKSQYELIEQCFKVIGFTMEQLGSIYSI
LAAILNVGNIEFSSVATEHQIDKSHISNHTALENCASLLCIRADELQEALTSHCVVTRGE
TIIRPNTVEKATDVRDAMAKTLYGRLFSWIVNCINSLLKHDSSPSGNGDELSIGILDIFG
FENFKKNSFEQLCINIANEQIQYYYNQHVFAWEQNEYLNEDVDARVIEYEDNWPLLDMFL
QKPMGLLSLLDEESRFPKATDQTLVEKFEGNLKSQYFWRPKRMELSFGIHHYAGKVLYNA
SGFLAKNRDTLPTDIVLLLRSSDNSVIRQLVNHPLTKTGNLPHSKTKNVINYQMRTSEKL
INLAKGDTGEATRHARETTNMKTQTVASYFRYSLMDLLSKMVVGQPHFVRCIKPNSERQA
RKYDKEKVLLQLRYTGILETARIRRLGFSHRILFANFIKRYYLLCYKSSEEPRMSPDTCA
TILEKAGLDNWALGKTKVFLKYYHVEQLNLMRKEAIDKLILIQACVRAFLCSRRYQKIQE
KRKESAIIIQSAARGHLVRKQRKEIVDMKNTAVTTIQTSDQEFDYKKNFENTRESFVKKQ
AENAISANERFISAPNNKGSVSVVKTSTFKPEEETTNAVESNNRVYQTPKKMNNVYEEEV
KQEFYLVGPEVSPKQKSVKDLEENSNLRKVEKEEAMIQSYYQRYTEERNCEESKAAYLER
KAISERPSYPVPWLAENETSFKKTLEPTLSQRSIYQNANSMEKEKKTSVVTQRAPICSQE
EGRGRLRHETVKERQVEPVTQAQEEEDKAAVFIQSKYRGYKRRQQLRKDKMSSFKHQRIV
TTPTEVARNTHNLYSYPTKHEEINNIKKKDNKDSKATSEREACGLAIFSKQISKLSEEYF
ILQKKLNEMILSQQLKSLYLGVSHHKPINRRVSSQQCLSGVCKGEEPKILRPPRRPRKPK
TLNNPEDSTYYYLLHKSIQEEKRRPRKDSQGKLLDLEDFYYKEFLPSRSGPKEHSPSLRE
RRPQQELQNQCIKANERCWAAESPEKEEEREPAANPYDFRRLLRKTSQRRRLVQQS |
NT seq |
4851 nt +upstreamnt +downstreamnt
atgtttccattaattggaaaaacaatcatctttgataactttcctgatccttctgataca
tgggaaatcactgagacaattggcaaaggaacttatgggaaagtttttaaagtattgaat
aagaaaaatggccaaaaagcagcagtcaaaattcttgatccaattcacgatattgacgaa
gagattgaagcagaatataacatcttaaaagcactttctgaccaccctaatgtggtcaga
ttctatgggatatactttaagaaggataaagtaaatggagacaagctgtggttggttctt
gagctctgcagtggaggatcagtgactgaccttgtgaaaggatttctgaagaggggtgaa
agaatgagtgagcctctaattgcctatattttacatgaagcactaatgggacttcaacat
ttgcataacaacaaaactatccacagagatgtgaaaggcaataacattctattgaccacg
gaaggtggagtgaaactagtagattttggtgtgtctgcacagctcaccagtacccggcac
cgtcggaacacatccgtaggaacaccgttttggatggctcctgaggtgattgcatgtgaa
cagcaattggataccacttatgacgccagatgtgacacttggtccctgggtatcacggcc
attgagctgggtgatggagatcctccactagctgaccttcatcccatgagagcactcttc
aaaataccaaggaatccacccccaaaactaaggcagcctgagctatggtcagcagaattc
aatgacttcataagcaagtgcttgactaaagattatgaaaagcgtccaacagtgtcagaa
cttttacagcataaattcattactcaaattgagggcaaagatgtgatgctacaaaaacaa
ctaacggaattcattggcatccatcaatgcatgggaggcacagaaaaggccagacgtgaa
cgtattcacacgaagaaagggaacttcaaccgacctctaatatccaatctgaaggatgta
gatgatttagcaaccctagaaattttggatgagaatacagtctcagagcaacttgagaag
tgttattccagagatcagatctacgtctatgtgggagacatactcattgctcttaaccct
tttcagagtctgggtctttactccacaaagcattccaaactatatattggatcaaagaga
actgccagtcctcctcacatttttgcaatggctgacttaggatatcaatctatgataaca
tataattcagatcagtgcattgttatttctggagaaagtggtgctggaaagactgaaaat
gctcatcttttagttcagcagctgacagtgcttggaaaggctaataacagaaccttgcaa
gagaagattttacaagtgaacaatttggtagaagcctttggcaatgcctgcactattata
aatgacaattctagcagatttggaaaatacttagaaatgaaattcacctcttctggagcg
gtagtgggagcacagatttctgaatatctcctggaaaaatcccgagttatccaccaagct
attggagaaaaaaattttcatattttttactacatttatgctggtttggctgaaaagaag
aaactagcccattacaaactgcctgaaaataagcctcccaggtacctacaaaatgaccac
ctcagaacagtacaagacatcatgaataatagtttctataaatcccagtatgaattaatt
gagcaatgtttcaaagtcataggttttacaatggagcaacttggtagtatatacagcata
ctcgctgcaatcttgaatgttggcaacattgaattttcttctgtggcaactgaacaccag
attgacaagagccacatttctaatcatacagccctggagaactgtgcttctttgctttgc
attcgggcagatgagctacaagaagctctcacctcccactgtgtggtcactagaggagaa
acaattatacgacccaatactgtagaaaaagctaccgatgtcagggatgccatggctaaa
actttatatggacgtctctttagttggatagtcaattgcattaacagtttgttgaagcat
gactcatcaccaagtgggaatggtgatgagctgagcattggcattcttgatatatttggc
tttgaaaatttcaaaaaaaattccttcgagcagctgtgcattaacattgcaaatgaacaa
attcagtattattataatcaacatgtgtttgcatgggaacagaatgaatacctaaatgaa
gatgtggatgctagagttattgaatatgaggataactggcccctcttagatatgtttctg
caaaagccaatgggtttactttccctacttgatgaagaaagtagatttcccaaggccact
gaccagactcttgtagaaaaatttgaaggtaacctgaaatcacaatacttctggagaccc
aaaagaatggaacttagttttggaattcaccattatgcaggaaaggtcctctataatgca
agtggattcttagccaaaaacagagacactcttcctactgacattgtgctacttttgagg
tcatccgacaacagtgtaattaggcaactagtcaaccaccctctgaccaaaacaggtaat
ctgccacattctaaaactaaaaatgttataaactatcaaatgaggacttcagaaaaatta
atcaacctggcaaagggcgacactggagaagccacacgtcatgccagagagacaaccaac
atgaaaacacaaacggttgcatcatattttagatattccctgatggatttgttgtctaaa
atggtggtgggccaacctcattttgtccgttgcatcaaaccaaatagtgagcgtcaggca
agaaaatatgacaaagagaaagttctgctacagcttcggtacacaggaattctggaaaca
gcaagaattcgaagactaggattctcccatcggatactttttgctaactttataaagcgg
tactaccttctctgctacaagtcgagcgaggagccccgcatgagccctgacacctgtgcc
accattttggaaaaagctggtctcgataactgggctcttggaaaaacaaaagtgttcctt
aagtattatcacgtggagcagttaaatctaatgcgaaaggaagctattgacaagcttatt
ttgattcaagcttgtgtcagagcattcttgtgttcaagaagataccaaaaaatacaggag
aaaaggaaagaaagcgctataataatacagtcagctgcaagaggacaccttgtcaggaaa
caaagaaaagaaattgttgacatgaaaaacacagcagtaacaaccattcaaacttctgat
caggaattcgactacaagaaaaactttgaaaatacaagggaatctttcgtgaagaaacaa
gcagaaaatgcaatctctgctaatgaaagattcatttcagctccaaataataaaggaagt
gtatctgtagtgaagacttccactttcaaacctgaagaggaaaccaccaatgctgtggag
agtaacaacagagtgtatcagactccaaaaaaaatgaataatgtgtatgaggaagaggtt
aagcaagaattctaccttgtagggccagaagtaagccccaaacagaagtctgtcaaagac
ctggaagagaacagcaatctaaggaaagtggagaaagaggaagctatgatccagagttac
tatcagaggtacacagaggagaggaattgtgaagagtcaaaagcagcatatctagaaagg
aaggccatatcagaaaggccaagctacccagtgccttggttagctgaaaatgagacttcc
tttaaaaaaactttggaacctacacttagccaaaggtcaatttatcaaaatgcaaacagc
atggaaaaagaaaagaagacatctgtagttacccagcgtgcaccgatatgcagccaggag
gaaggcagaggccgtctgaggcatgagacagtcaaagagaggcaagttgaaccagtgaca
caggcccaggaggaagaagataaagcagcggtattcattcagagcaaataccggggttac
aagagaaggcagcagttgaggaaggacaagatgtcttcttttaagcatcagaggattgtc
acaacaccaacagaagtagcaagaaacactcataatttgtattcctatcccacaaaacat
gaggaaatcaataacatcaagaagaaggataacaaagactcgaaagcaacttcagaaaga
gaagcatgtggtttggcaattttttcaaaacagatatcaaagttatctgaagaatatttc
attctgcagaaaaaattgaatgaaatgattttgtcacagcaactgaagtcactttatctg
ggtgtctcgcaccataagccaattaatagacgagtttcttctcagcagtgcctctcaggt
gtctgtaaaggagaggagccaaaaatattgagacccccaagacgaccccggaaacccaaa
acattaaataaccctgaagactccacatactattatctacttcataagtcaatccaagaa
gaaaaacgaagaccaaggaaagacagtcagggaaaattattagatttggaagatttctat
tataaggaatttttgcccagtcgttctggaccaaaggaacatagccctagtttaagagaa
cgaagaccacagcaagaactccagaatcaatgtattaaggctaatgaaaggtgctgggcg
gcggagagccccgagaaggaggaggagagagagccagcagccaacccctacgacttcagg
aggctcctgcgcaaaacctcccagcgccggcgcctcgtccagcagtcctaa |