KEGG   Homo sapiens (human): 9381Help
Entry
9381              CDS       T01001                                 

Gene name
OTOF, AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
Definition
otoferlin
Organism
hsa  Homo sapiens (human)
Disease
H00605  
Deafness, autosomal recessive
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
2p23.1
AA seq 1997 aa AA seqDB search
MALLIHLKTVSELRGRGDRIAKVTFRGQSFYSRVLENCEDVADFDETFRWPVASSIDRNE
MLEIQVFNYSKVFSNKLIGTFRMVLQKVVEESHVEVTDTLIDDNNAIIKTSLCVEVRYQA
TDGTVGSWDDGDFLGDESLQEEEKDSQETDGLLPGSRPSSRPPGEKSFRRAGRSVFSAMK
LGKNRSHKEEPQRPDEPAVLEMEDLDHLAIRLGDGLDPDSVSLASVTALTTNVSNKRSKP
DIKMEPSAGRPMDYQVSITVIEARQLVGLNMDPVVCVEVGDDKKYTSMKESTNCPYYNEY
FVFDFHVSPDVMFDKIIKISVIHSKNLLRSGTLVGSFKMDVGTVYSQPEHQFHHKWAILS
DPDDISSGLKGYVKCDVAVVGKGDNIKTPHKANETDEDDIEGNLLLPEGVPPERQWARFY
VKIYRAEGLPRMNTSLMANVKKAFIGENKDLVDPYVQVFFAGQKGKTSVQKSSYEPLWNE
QVVFTDLFPPLCKRMKVQIRDSDKVNDVAIGTHFIDLRKISNDGDKGFLPTLGPAWVNMY
GSTRNYTLLDEHQDLNEGLGEGVSFRARLLLGLAVEIVDTSNPELTSSTEVQVEQATPIS
ESCAGKMEEFFLFGAFLEASMIDRRNGDKPITFEVTIGNYGNEVDGLSRPQRPRPRKEPG
DEEEVDLIQNASDDEAGDAGDLASVSSTPPMRPQVTDRNYFHLPYLERKPCIYIKSWWPD
QRRRLYNANIMDHIADKLEEGLNDIQEMIKTEKSYPERRLRGVLEELSCGCCRFLSLADK
DQGHSSRTRLDRERLKSCMRELENMGQQARMLRAQVKRHTVRDKLRLCQNFLQKLRFLAD
EPQHSIPDIFIWMMSNNKRVAYARVPSKDLLFSIVEEETGKDCAKVKTLFLKLPGKRGFG
SAGWTVQAKVELYLWLGLSKQRKEFLCGLPCGFQEVKAAQGLGLHAFPPVSLVYTKKQAF
QLRAHMYQARSLFAADSSGLSDPFARVFFINQSQCTEVLNETLCPTWDQMLVFDNLELYG
EAHELRDDPPIIVIEIYDQDSMGKADFMGRTFAKPLVKMADEAYCPPRFPPQLEYYQIYR
GNATAGDLLAAFELLQIGPAGKADLPPINGPVDVDRGPIMPVPMGIRPVLSKYRVEVLFW
GLRDLKRVNLAQVDRPRVDIECAGKGVQSSLIHNYKKNPNFNTLVKWFEVDLPENELLHP
PLNIRVVDCRAFGRYTLVGSHAVSSLRRFIYRPPDRSAPSWNTTVRLLRRCRVLCNGGSS
SHSTGEVVVTMEPEVPIKKLETMVKLDATSEAVVKVDVAEEEKEKKKKKKGTAEEPEEEE
PDESMLDWWSKYFASIDTMKEQLRQQEPSGIDLEEKEEVDNTEGLKGSMKGKEKARAAKE
EKKKKTQSSGSGQGSEAPEKKKPKIDELKVYPKELESEFDNFEDWLHTFNLLRGKTGDDE
DGSTEEERIVGRFKGSLCVYKVPLPEDVSREAGYDSTYGMFQGIPSNDPINVLVRVYVVR
ATDLHPADINGKADPYIAIRLGKTDIRDKENYISKQLNPVFGKSFDIEASFPMESMLTVA
VYDWDLVGTDDLIGETKIDLENRFYSKHRATCGIAQTYSTHGYNIWRDPMKPSQILTRLC
KDGKVDGPHFGPPGRVKVANRVFTGPSEIEDENGQRKPTDEHVALLALRHWEDIPRAGCR
LVPEHVETRPLLNPDKPGIEQGRLELWVDMFPMDMPAPGTPLDISPRKPKKYELRVIIWN
TDEVVLEDDDFFTGEKSSDIFVRGWLKGQQEDKQDTDVHYHSLTGEGNFNWRYLFPFDYL
AAEEKIVISKKESMFSWDETEYKIPARLTLQIWDADHFSADDFLGAIELDLNRFPRGAKT
AKQCTMEMATGEVDVPLVSIFKQKRVKGWWPLLARNENDEFELTGKVEAELHLLTAEEAE
KNPVGLARNEPDPLEKPNRPDTAFVWFLNPLKSIKYLICTRYKWLIIKIVLALLGLLMLG
LFLYSLPGYMVKKLLGA
NT seq 5994 nt NT seq  +upstreamnt  +downstreamnt
atggccttgctcatccacctcaagacagtctcggagctgcggggcaggggcgaccggatc
gccaaagtgactttccgagggcaatccttctactctcgggtcctggagaactgtgaggat
gtggctgactttgatgagacatttcggtggccggtggccagcagcatcgacagaaatgag
atgctggagattcaggttttcaactacagcaaagtcttcagcaacaagctcatcgggacc
ttccgcatggtgctgcagaaggtggtagaggagagccatgtggaggtgactgacacgctg
attgatgacaacaatgctatcatcaagaccagcctgtgcgtggaggtccggtatcaggcc
actgacggcacagtgggctcctgggacgatggggacttcctgggagatgagtctcttcaa
gaggaagagaaggacagccaagagacggatggactgctcccaggctcccggcccagctcc
cggcccccaggagagaagagcttccggagagccgggaggagcgtgttctccgccatgaag
ctcggcaaaaaccggtctcacaaggaggagccccaaagaccagatgaaccggcggtgctg
gagatggaagaccttgaccatctggccattcggctaggagatggactggatcccgactcg
gtgtctctagcctcagtcacagctctcaccactaatgtctccaacaagcgatctaagcca
gacattaagatggagccaagtgctgggcggcccatggattaccaggtcagcatcacggtg
atcgaggcccggcagctggtgggcttgaacatggaccctgtggtgtgcgtggaggtgggt
gacgacaagaagtacacatccatgaaggagtccactaactgcccctattacaacgagtac
ttcgtcttcgacttccatgtctctccggatgtcatgtttgacaagatcatcaagatttcg
gtgattcactccaagaacctgctgcgcagtggcaccctggtgggctccttcaaaatggac
gtgggaaccgtgtactcgcagccagagcaccagttccatcacaagtgggccatcctgtct
gaccccgatgacatctcctcggggctgaagggctacgtgaagtgtgacgttgccgtggtg
ggcaaaggggacaacatcaagacgccccacaaggccaatgagaccgacgaagatgacatt
gaggggaacttgctgctccccgagggggtgccccccgaacgccagtgggcccggttctat
gtgaaaatttaccgagcagaggggctgccccgtatgaacacaagcctcatggccaatgta
aagaaggctttcatcggtgaaaacaaggacctcgtggacccctacgtgcaagtcttcttt
gctggccagaagggcaagacttcagtgcagaagagcagctatgagcccctgtggaatgag
caggtcgtctttacagacctcttccccccactctgcaaacgcatgaaggtgcagatccga
gactcggacaaggtcaacgacgtggccatcggcacccacttcattgacctgcgcaagatt
tctaatgacggagacaaaggcttcctgcccacactgggcccagcctgggtgaacatgtac
ggctccacacgtaactacacgctgctggatgagcatcaggacctgaacgagggcctgggg
gagggtgtgtccttccgggcccggctcctgctgggcctggctgtggagatcgtagacacc
tccaaccctgagctcaccagctccacagaggtgcaggtggagcaggccacgcccatctcg
gagagctgtgcaggtaaaatggaagaattctttctctttggagccttcctggaggcctca
atgatcgaccggagaaacggagacaagcccatcacctttgaggtcaccataggcaactat
gggaacgaagttgatggcctgtcccggccccagcggcctcggccccggaaggagccgggg
gatgaggaagaagtagacctgattcagaacgcaagtgatgacgaggccggtgatgccggg
gacctggcctcagtctcctccactccaccaatgcggccccaggtcaccgacaggaactac
ttccatctgccctacctggagcgaaagccctgcatctacatcaagagctggtggccggac
cagcgccgccgcctctacaatgccaacatcatggaccacattgccgacaagctggaagaa
ggcctgaacgacatacaggagatgatcaaaacggagaagtcctaccctgagcgtcgcctg
cggggcgtcctggaggagctgagctgtggctgctgccgcttcctctccctcgctgacaag
gaccagggccactcatcccgcaccaggcttgaccgggagcgcctcaagtcctgcatgagg
gagctggaaaacatggggcagcaggccaggatgctgcgggcccaggtgaagcggcacacg
gtgcgggacaagctgaggctgtgccagaacttcctgcagaagctgcgcttcctggcggac
gagccccagcacagcattcccgacatcttcatctggatgatgagcaacaacaagcgtgtc
gcctatgcccgtgtgccctccaaggacctgctcttctccatcgtggaggaggagactggc
aaggactgcgccaaggtcaagacgctcttccttaagctgccagggaagcggggcttcggc
tcggcaggctggacagtgcaggccaaggtggagctgtacctgtggctgggcctcagcaaa
cagcgcaaggagttcctgtgcggcctgccctgtggcttccaggaggtcaaggcagcccag
ggcctgggcctgcatgccttcccacccgtcagcctggtctacaccaagaagcaggcgttc
cagctccgagcgcacatgtaccaggcccgcagcctctttgccgccgacagcagcggactc
tcagacccctttgcccgcgtcttcttcatcaatcagagtcagtgcacagaggtgctgaat
gagaccctgtgtcccacctgggaccagatgctggtgttcgacaacctggagctctatggt
gaagctcatgagctgagggacgatccgcccatcattgtcattgaaatctatgaccaggat
tccatgggcaaagctgacttcatgggccggaccttcgccaaacccctggtgaagatggca
gacgaggcgtactgcccaccccgcttcccacctcagctcgagtactaccagatctaccgt
ggcaacgccacagctggagacctgctggcggccttcgagctgctgcagattggaccagca
gggaaggctgacctgccccccatcaatggcccggtggacgtggaccgaggtcccatcatg
cccgtgcccatgggcatccggcccgtgctcagcaagtaccgagtggaggtgctgttctgg
ggcctacgggacctaaagcgggtgaacctggcccaggtggaccggccacgggtggacatc
gagtgtgcagggaagggggtgcagtcgtccctgatccacaattataagaagaaccccaac
ttcaacaccctcgtcaagtggtttgaagtggacctcccagagaacgagctgctgcacccg
cccttgaacatccgtgtggtggactgccgggccttcggtcgctacacactggtgggctcc
catgccgtcagctccctgcgacgcttcatctaccggcccccagaccgctcggcccccagc
tggaacaccacggtcaggcttctccggcgctgccgtgtgctgtgcaatgggggctcctcc
tctcactccacaggggaggttgtggtgactatggagccagaggtacccatcaagaaactg
gagaccatggtgaagctggacgcgacttctgaagctgttgtcaaggtggatgtggctgag
gaggagaaggagaagaagaagaagaagaagggcactgcggaggagccagaggaggaggag
ccagacgagagcatgctggactggtggtccaagtactttgcctccattgacaccatgaag
gagcaacttcgacaacaagagccctctggaattgacttggaggagaaggaggaagtggac
aataccgagggcctgaaggggtcaatgaagggcaaggagaaggcaagggctgccaaagag
gagaagaagaagaaaactcagagctctggctctggccaggggtccgaggcccccgagaag
aagaaacccaagattgatgagcttaaggtataccccaaagagctggagtccgagtttgat
aactttgaggactggctgcacactttcaacttgcttcggggcaagaccggggatgatgag
gatggctccaccgaggaggagcgcattgtgggacgcttcaagggctccctctgcgtgtac
aaagtgccactcccagaggacgtgtcccgggaagccggctacgactccacctacggcatg
ttccagggcatcccgagcaatgaccccatcaatgtgctggtccgagtctatgtggtccgg
gccacggacctgcaccctgctgacatcaacggcaaagctgacccctacatcgccatccgg
ctaggcaagactgacatccgcgacaaggagaactacatctccaagcagctcaaccctgtc
tttgggaagtcctttgacatcgaggcctccttccccatggaatccatgctgacggtggct
gtgtatgactgggacctggtgggcactgatgacctcattggggaaaccaagatcgacctg
gagaaccgcttctacagcaagcaccgcgccacctgcggcatcgcccagacctactccaca
catggctacaatatctggcgggaccccatgaagcccagccagatcctgacccgcctctgc
aaagacggcaaagtggacggcccccactttgggccccctgggagagtgaaggtggccaac
cgcgtcttcactgggccctctgagattgaggacgagaacggtcagaggaagcccacagac
gagcatgtggcgctgttggccctgaggcactgggaggacatcccccgcgcaggctgccgc
ctggtgccagagcatgtggagacgaggccgctgctcaaccccgacaagccgggcatcgag
cagggccgcctggagctgtgggtggacatgttccccatggacatgccagcccctgggacg
cctctggacatctcacctcggaagcccaagaagtacgagctgcgggtcatcatctggaac
acagatgaggtggtcttggaggacgacgacttcttcacaggggagaagtccagtgacatc
ttcgtgagggggtggctgaagggccagcaggaggacaagcaggacacagacgtccactac
cactccctcactggcgagggcaacttcaactggcgctacctgttccccttcgactacctg
gcggcggaggagaagatcgtcatctccaagaaggagtccatgttctcctgggacgagacc
gagtacaagatccccgcgcggctcaccctgcagatctgggatgcggaccacttctccgct
gacgacttcctgggggccatcgagctggacctgaaccggttcccgcggggcgcaaagaca
gccaagcagtgcaccatggagatggccaccggggaggtggacgtgcccctcgtgtccatc
ttcaagcaaaagcgcgtcaaaggctggtggcccctcctggcccgcaatgagaacgatgag
tttgagctcacgggcaaggtggaggctgagctgcatttactgacagcagaggaggcagag
aagaacccagtgggcctggcccgcaatgaacctgaccccctagagaaacccaaccggccc
gacacggccttcgtctggttcctcaaccctctcaagtccatcaagtacctcatctgcacc
cggtacaagtggctcatcatcaagatcgtgctggcgctgttggggctgctcatgttgggg
ctcttcctctacagcctccctggctacatggtcaaaaagctccttggggcatga

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