Entry |
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Symbol |
TMC1, DFNA36, DFNB11, DFNB7
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Name |
(RefSeq) transmembrane channel like 1
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KO |
K21988 | transmembrane channel-like protein |
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Organism |
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Disease |
H00604 | Deafness, autosomal dominant |
H00605 | Deafness, autosomal recessive |
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Brite |
KEGG Orthology (KO) [BR:hsa00001]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
02000 Transporters [BR:hsa02000]
117531 (TMC1)
03037 Cilium and associated proteins [BR:hsa03037]
117531 (TMC1)
Transporters [BR:hsa02000]
Other transporters
Pores ion channels [TC:1]
117531 (TMC1)
Cilium and associated proteins [BR:hsa03037]
Other cilia and associated proteins
Stereociliary proteins
117531 (TMC1)
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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 |
9:72521608..72838297
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AA seq |
760 aa
MSPKKVQIKVEEKEDETEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPED
EETRKAREKERRRRLKRGAEEEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVL
KEAKKFVSENEGALGKGKGKRWFAFKMMMAKKWAKFLRDFENFKAACVPWENKIKAIESQ
FGSSVASYFLFLRWMYGVNMVLFILTFSLIMLPEYLWGLPYGSLPRKTVPRAEEASAANF
GVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNI
GDDGGGDDNTFNFSWKVFTSWDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHL
IRFLRFLANFFVFLTLGGSGYLIFWAVKRSQEFAQQDPDTLGWWEKNEMNMVMSLLGMFC
PTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANIT
LWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFVRLTVSDVLTTYVTIL
IGDFLRACFVRFCNYCWCWDLEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGI
NILRLHTSMYFQCWAVMCCNVPEARVFKASRSNNFYLGMLLLILFLSTMPVLYMIVSLPP
SFDCGPFSGKNRMFEVIGETLEHDFPSWMAKILRQLSNPGLVIAVILVMVLAIYYLNATA
KGQKAANLDLKKKMKMQALENKMRNKKMAAARAAAAAGRQ |
NT seq |
2283 nt +upstreamnt +downstreamnt
atgtcacccaaaaaagtacaaatcaaagtggaggaaaaagaagacgagactgaggaaagc
tcaagtgaagaggaagaggaggtggaagataagctacctcgaagagagagcttgagacca
aagaggaaacggaccagagatgttatcaatgaggatgacccagaacctgaaccagaggat
gaagaaacaaggaaggcaagagaaaaagagaggaggaggaggctaaagagaggagcagaa
gaagaagaaattgatgaagaggaattggaaagattgaaggcagagttagatgagaaaaga
caaataattgctactgtcaaatgcaaaccatggaagatggagaagaaaattgaagttctc
aaggaggcaaaaaaatttgtgagtgaaaatgaaggggctcttgggaaaggaaaaggaaaa
cggtggtttgcatttaagatgatgatggccaagaaatgggcaaaattcctccgtgatttt
gagaacttcaaagctgcgtgtgtcccatgggaaaataaaatcaaggctattgaaagtcag
tttggctcctcagtggcctcatacttcctcttcttgagatggatgtatggagtcaatatg
gttctctttatcctgacatttagcctcatcatgttgccagagtacctctggggtttgcca
tatggcagtttacctaggaaaaccgttcccagagccgaagaggcatcggcagcaaacttt
ggtgtgttgtacgacttcaatggtttggcacaatattccgttctcttttatggctattat
gacaataaacgaacaattggatggatgaatttcaggttgccgctctcctattttctagtg
gggattatgtgcattggatacagctttctggttgtcctcaaagcaatgaccaaaaacatt
ggtgatgatggaggtggagatgacaacactttcaatttcagctggaaggtctttaccagc
tgggactacctgatcggcaatcctgaaacagcagacaacaaatttaattctatcacaatg
aactttaaggaagctatcacagaagaaaaagcagcccaagtagaagaaaacgtccacttg
atcagattcctgaggtttctggctaacttcttcgtgtttctaacacttggagggagtgga
tacctcatcttttgggctgtgaagcgatcccaggaatttgcacagcaagatcctgacacc
cttgggtggtgggaaaaaaatgaaatgaacatggttatgtccctcctagggatgttctgt
ccaacattgtttgacttatttgctgaattagaagactaccatcctctcatcgctttgaaa
tggctactgggacgcatttttgctcttcttttaggcaatttatacgtatttattcttgca
ttaatggatgagattaacaacaagattgaagaggagaagctagtaaaggccaatattacc
ctttgggaagccaatatgatcaaggcctacaatgcatcattctctgaaaatagcactgga
ccacccttttttgttcaccctgcagatgtacctcgaggaccttgctgggaaacaatggtg
ggacaggagtttgtgaggctgacagtctctgatgttctgaccacctacgtcacaatcctc
attggggactttctaagggcatgttttgtgaggttttgcaattattgctggtgctgggac
ttggagtatggatatccttcatacaccgaattcgacatcagtggcaacgtcctcgctctg
atcttcaaccaaggcatgatctggatgggctccttctttgctcccagcctcccaggcatc
aatatccttcgactccatacatccatgtacttccagtgctgggccgttatgtgctgcaat
gttcctgaggccagggtcttcaaagcttccagatcaaataacttctacctgggcatgcta
ctgctcatcctcttcctgtccacaatgcctgtcttgtacatgatcgtgtccctcccacca
tcttttgattgtggtccattcagtggcaaaaatagaatgtttgaagtcattggagagacc
ctggagcacgatttcccaagctggatggcgaagatcttgagacagctttcaaaccctggg
ctggtcattgctgtcattttggtgatggttttggccatctattatctcaatgctactgcc
aagggccagaaggcagcgaatctggatctcaaaaagaagatgaaaatgcaagctttggag
aacaaaatgcgaaacaagaaaatggcagctgcacgagcagctgcagctgctggtcgccag
taa |