KEGG   Homo sapiens (human): 117531
Entry
117531            CDS       T01001                                 
Symbol
TMC1, DFNA36, DFNB11, DFNB7
Name
(RefSeq) transmembrane channel like 1
  KO
K21988  transmembrane channel-like protein
Organism
hsa  Homo sapiens (human)
Disease
H00604  Deafness, autosomal dominant
H00605  Deafness, autosomal recessive
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)
SSDB
Motif
Pfam: TMC Ac76
Other DBs
NCBI-GeneID: 117531
NCBI-ProteinID: NP_619636
OMIM: 606706
HGNC: 16513
Ensembl: ENSG00000165091
UniProt: Q8TDI8
Position
9:72521608..72838297
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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (21)   
   RefSeq(nuc) (3)   
   GenBank (9)   
   EMBL (9)   
Protein domain (2)   
   Pfam (2)   
All databases (56)   

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