LOCUS AF107403 4970 bp mRNA linear HUM 20-APR-1999
DEFINITION Homo sapiens otoferlin (OTOF) mRNA, complete cds.
ACCESSION AF107403
VERSION AF107403.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4970)
AUTHORS Yasunaga,S., Grati,M., Cohen-Salmon,M., El-Amraoui,A., Mustapha,M.,
Salem,N., El-Zir,E., Loiselet,J. and Petit,C.
TITLE A mutation in OTOF, encoding otoferlin, a FER-1-like protein,
causes DFNB9, a nonsyndromic form of deafness
JOURNAL Nat. Genet. 21 (4), 363-369 (1999)
PUBMED 10192385
REFERENCE 2 (bases 1 to 4970)
AUTHORS Yasunaga,S., Grati,M. and Petit,C.
TITLE Direct Submission
JOURNAL Submitted (17-NOV-1998) Unite de Genetique des Deficits Sensoriels,
CNRS URA 1968, Institut Pasteur, 25 rue du Docteur Roux, Paris
75724, France
FEATURES Location/Qualifiers
source 1..4970
/db_xref="H-InvDB:HIT000069547"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p23.1"
gene 1..4970
/gene="OTOF"
CDS 227..3919
/gene="OTOF"
/note="similar to Caenorhabditis elegans FER-1; mutated in
DFNB9, a nonsyndromic form of deafness"
/codon_start=1
/product="otoferlin"
/protein_id="AAD26117.1"
/translation="MIKTEKSYPERRLRGVLEELSCGCCRFLSLADKDQGHSSRTRLD
RERLKSCMRELENMGQQARMLRAQVKRHTVRDKLRLCQNFLQKLRFLADEPQHSIPDI
FIWMMSNNKRVAYARVPSKDLLFSIVEEETGKDCAKVKTLFLKLPGKRGFGSAGWTVQ
AKVELYLWLGLSKQRKEFLCGLPCGFQEVKAAQGLGLHAFPPVSLVYTKKQAFQLRAH
MYQARSLFAADSSGLSDPFARVFFINQSQCTEVLNETLCPTWDQMLVFDNLELYGEAH
ELRDDPPIIVIEIYDQDSMGKADFMGRTFAKPLVKMADEAYCPPRFPPQLEYYQIYRG
NATAGDPLAAFELLQIGPAGKADLPPINGPVDVDRGPIMPVPMGIRPVLSKYRVEVLF
WGLRDLKRVNLAQVDRPRVDIECAGKGVQSSLIHNYKKNPNFNTLVKWFEVDLPENEL
LHPPLNIRVVDCRAFGRYTLVGSHAVSSLRRFIYRPPDRSAPSWNTTGEVVVTMEPEV
PIKKLETMVKLDATSEAVVKVDVAEEEKEKKKKKKGTAEEPEEEEPDESMLDWWSKYF
ASIDTMKEQLRQQEPSGIDLEEKEEVDNTEGLKGSMKGKEKARAAKEEKKKKTQSSGS
GQGSEAPEKKKPKIDELKVYPKELESEFDNFEDWLHTFNLLRGKTGDDEDGSTEEERI
VGRFKGSLCVYKVPLPEDVSREAGYDSTYGMFQGIPSNDPINVLVRVYVVRATDLHPA
DINGKADPYIAIRLGKTDIRDKENYISKQLNPVFGKSFDIEASFPMESMLTVAVYDWD
LVGTDDLIGETKIDLENRFYSKHRATCGIAQTYSTHGYNIWRDPMKPSQILTRLCKDG
KVDGPHFGPPGRVKVANRVFTGPSEIEDENGQRKPTDEHVALLALRHWEDIPRAGCRL
VPEHVETRPLLNPDKPGIEQGRLELWVDMFPMDMPAPGTPLDISPRKPKKYELRVIIW
NTDEVVLEDDDFFTGEKSSDIFVRGWLKGQQEDKQDTDVHYHSLTGEGNFNWRYLFPF
DYLAAEEKIVISKKESMFSWDETEYKIPARLTLQIWDADHFSADDFLGAIELDLNRFP
RGAKTAKQCTMEMATGEVDVPLVSIFKQKRVKGWWPLLARNENDEFELTGKVEAELHL
LTAEEAEKNPVGLARNEPDPLEKPNRPDTSFIWFLNPLKSARYFLWHTYRWLLLKLLL
LLLLLLLLALFLYSVPGYLVKKILGA"
BASE COUNT 1061 a 1529 c 1455 g 925 t
ORIGIN
1 ccgtgagttc tgcccaggcc ctgtgagctc accagagcca cagactcaca gcccagaggt
61 ggcttcttcc ttcaggaact gaagaacccc catgaacacc aacatctcca ggttctgaga
121 acagaacctg ggaaattgat gacttcctca tgatgaccga tactcaggat ggccctagcg
181 agagctccca gatcatgagg aagaaggcct gaacgacata caggagatga tcaaaacgga
241 gaagtcctac cctgagcgtc gcctgcgggg cgtcctggag gagctgagct gtggctgctg
301 ccgcttcctc tccctcgctg acaaggacca gggccactca tcccgcacca ggcttgaccg
361 ggagcgcctc aagtcctgca tgagggagct ggaaaacatg gggcagcagg ccaggatgct
421 gcgggcccag gtgaagcggc acacggtgcg ggacaagctg aggctgtgcc agaacttcct
481 gcagaagctg cgcttcctgg cggacgagcc ccagcacagc attcccgaca tcttcatctg
541 gatgatgagc aacaacaagc gtgtcgccta tgcccgtgtg ccctccaagg acctgctctt
601 ctccatcgtg gaggaggaga ctggcaagga ctgcgccaag gtcaagacgc tcttccttaa
661 gctgccaggg aagcggggct tcggctcggc aggctggaca gtgcaggcca aggtggagct
721 gtacctgtgg ctgggcctca gcaaacagcg caaggagttc ctgtgcggcc tgccctgtgg
781 cttccaggag gtcaaggcag cccagggcct gggcctgcat gccttcccac ccgtcagcct
841 ggtctacacc aagaagcagg cgttccagct ccgagcgcac atgtaccagg cccgcagcct
901 ctttgccgcc gacagcagcg gactctcaga cccctttgcc cgcgtcttct tcatcaatca
961 gagtcagtgc acagaggtgc tgaatgagac cctgtgtccc acctgggacc agatgctggt
1021 gttcgacaac ctggagctct atggtgaagc tcatgagctg agggacgatc cgcccatcat
1081 tgtcattgaa atctatgacc aggattccat gggcaaagct gacttcatgg gccggacctt
1141 cgccaaaccc ctggtgaaga tggcagacga ggcgtactgc ccaccccgct tcccacctca
1201 gctcgagtac taccagatct accgtggcaa cgccacagct ggagacccgc tggcggcctt
1261 cgagctgctg cagattggac cagcagggaa ggctgacctg ccccccatca atggcccggt
1321 ggacgtggac cgaggtccca tcatgcccgt gcccatgggc atccggcccg tgctcagcaa
1381 gtaccgagtg gaggtgctgt tctggggcct acgggaccta aagcgggtga acctggccca
1441 ggtggaccgg ccacgggtgg acatcgagtg tgcagggaag ggggtgcagt cgtccctgat
1501 ccacaattat aagaagaacc ccaacttcaa caccctcgtc aagtggtttg aagtggacct
1561 cccagagaac gagctgctgc acccgccctt gaacatccgt gtggtggact gccgggcctt
1621 cggtcgctac acactggtgg gctcccatgc cgtcagctcc ctgcgacgct tcatctaccg
1681 gcccccagac cgctcggccc ccagctggaa caccacgggg gaggttgtgg tgactatgga
1741 gccagaggta cccatcaaga aactggagac catggtgaag ctggacgcga cttctgaagc
1801 tgttgtcaag gtggatgtgg ctgaggagga gaaggagaag aagaagaaga agaagggcac
1861 tgcggaggag ccagaggagg aggagccaga cgagagcatg ctggactggt ggtccaagta
1921 ctttgcctcc attgacacca tgaaggagca acttcgacaa caagagccct ctggaattga
1981 cttggaggag aaggaggaag tggacaatac cgagggcctg aaggggtcaa tgaagggcaa
2041 ggagaaggca agggctgcca aagaggagaa gaagaagaaa actcagagct ctggctctgg
2101 ccaggggtcc gaggcccccg agaagaagaa acccaagatt gatgagctta aggtataccc
2161 caaagagctg gagtccgagt ttgataactt tgaggactgg ctgcacactt tcaacttgct
2221 tcggggcaag accggggatg atgaggatgg ctccaccgag gaggagcgca ttgtgggacg
2281 cttcaagggc tccctctgcg tgtacaaagt gccactccca gaggacgtgt cccgggaagc
2341 cggctacgac tccacctacg gcatgttcca gggcatcccg agcaatgacc ccatcaatgt
2401 gctggtccga gtctatgtgg tccgggccac ggacctgcac cctgctgaca tcaacggcaa
2461 agctgacccc tacatcgcca tccggctagg caagactgac atccgcgaca aggagaacta
2521 catctccaag cagctcaacc ctgtctttgg gaagtccttt gacatcgagg cctccttccc
2581 catggaatcc atgctgacgg tggctgtgta tgactgggac ctggtgggca ctgatgacct
2641 cattggggaa accaagatcg acctggagaa ccgcttctac agcaagcacc gcgccacctg
2701 cggcatcgcc cagacctact ccacacatgg ctacaatatc tggcgggacc ccatgaagcc
2761 cagccagatc ctgacccgcc tctgcaaaga cggcaaagtg gacggccccc actttgggcc
2821 ccctgggaga gtgaaggtgg ccaaccgcgt cttcactggg ccctctgaga ttgaggacga
2881 gaacggtcag aggaagccca cagacgagca tgtggcgctg ttggccctga ggcactggga
2941 ggacatcccc cgcgcaggct gccgcctggt gccagagcat gtggagacga ggccgctgct
3001 caaccccgac aagccgggca tcgagcaggg ccgcctggag ctgtgggtgg acatgttccc
3061 catggacatg ccagcccctg ggacgcctct ggacatctca cctcggaagc ccaagaagta
3121 cgagctgcgg gtcatcatct ggaacacaga tgaggtggtc ttggaggacg acgacttctt
3181 cacaggggag aagtccagtg acatcttcgt gagggggtgg ctgaagggcc agcaggagga
3241 caagcaggac acagacgtcc actaccactc cctcactggc gagggcaact tcaactggcg
3301 ctacctgttc cccttcgact acctggcggc ggaggagaag atcgtcatct ccaagaagga
3361 gtccatgttc tcctgggacg agaccgagta caagatcccc gcgcggctca ccctgcagat
3421 ctgggatgcg gaccacttct ccgctgacga cttcctgggg gccatcgagc tggacctgaa
3481 ccggttcccg cggggcgcaa agacagccaa gcagtgcacc atggagatgg ccaccgggga
3541 ggtggacgtg cccctcgtgt ccatcttcaa gcaaaagcgc gtcaaaggct ggtggcccct
3601 cctggcccgc aatgagaacg atgagtttga gctcacgggc aaggtggagg ctgagctgca
3661 tttactgaca gcagaggagg cagagaagaa cccagtgggc ctggcccgca atgaacctga
3721 ccccctagag aaacccaacc ggcccgacac gagcttcatc tggttcctga accctctcaa
3781 gtcggctcgc tacttcttgt ggcacacgta tcgctggctg ctcctcaaac tgttgctgct
3841 cctgctgctg ctcctcctcc tcgccctgtt cctctactct gtgcctggct acctggtcaa
3901 gaaaatcctc ggggcctgag cccagtggcc tcctggccgg cccgacacgg ccttcgtctg
3961 gttcctcaac cctctcaagt ccatcaagta cctcatctgc acccggtaca agtggctcat
4021 catcaagatc gtgctggcgc tgttggggct gctcatgttg gggctcttcc tctacagcct
4081 ccctggctac atggtcaaaa agctccttgg ggcatgaagg ccgccagctc ccgccagccg
4141 ctccccagcc ctgccgcatt tcctttcagt ggcttggact ctttcccatc tcccctgggg
4201 agcctgagga gcccagcgtc cacttttcat gccttgggcc gagcctgcct cctgcttgcg
4261 ggggccgcct gtcctcactg ccccaggctg cggcttgccc agtcccgccc ctctgacccc
4321 tgcctgtggg ctggggagcc ttggatgggg tggggacctg gaatgggtct ttcttgcccc
4381 acctggctga ggcgccaccc ttcttcaggc ccaggctcca gaggaagact cctgaaaccc
4441 tccccaggtt ttccaagtac aggattgaag ctttagtgaa attaaccaag gaccatgggt
4501 cagtgcccag ggctttaaaa agaatgaacg agcaaaaggt atccccgccg tgacccctgc
4561 agatagcacc ggtatttgat ccgcagcagg ggccagaccc tgcccacaag tcccagcgcg
4621 gatgtttctg ccactgctgg gctccacttg gctcctctca cttcccaggg ggtcgcctgt
4681 cctgcctgtg ggtttccatg gcttcccaga gttccctctg ccccagccag cgcctccagg
4741 cccagctgag gagctgtgag aagcagcaga ggggactccc catcccgggc acaccctgtc
4801 ttcccacccc tgcccccttg cccttccagc cctttcagct gcaggtggga gctggcccgt
4861 caagtgctgc ccctgcctgt gtctgggttt ctgttggctg tttttctttt cttggagtgg
4921 tgatttttct ctaaataaaa gaagtcaagc actgaaaaaa aaaaaaaaaa
//