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
Class
BRITE hierarchy
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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