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Q9HC10

- OTOF_HUMAN

UniProt

Q9HC10 - OTOF_HUMAN

Protein

Otoferlin

Gene

OTOF

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Key calcium ion sensor involved in the Ca2+-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes By similarity.By similarity

    Cofactori

    Binds calcium ions. The ions are bound to the C2 1 domain By similarity.By similarity

    GO - Molecular functioni

    1. calcium ion binding Source: UniProtKB

    GO - Biological processi

    1. membrane fusion Source: ProtInc
    2. sensory perception of sound Source: ProtInc
    3. synaptic vesicle exocytosis Source: UniProtKB

    Keywords - Biological processi

    Hearing

    Keywords - Ligandi

    Calcium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Otoferlin
    Alternative name(s):
    Fer-1-like protein 2
    Gene namesi
    Name:OTOF
    Synonyms:FER1L2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:8515. OTOF.

    Subcellular locationi

    Cytoplasmic vesiclesecretory vesiclesynaptic vesicle membrane By similarity; Single-pass type II membrane protein By similarity. Basolateral cell membrane By similarity; Single-pass type II membrane protein By similarity. Endoplasmic reticulum membrane By similarity; Single-pass type II membrane protein By similarity. Cell membrane By similarity; Single-pass type II membrane protein By similarity
    Note: Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs). Colocalizes with GPR25 and RAB8B in inner hair cells By similarity.By similarity

    GO - Cellular componenti

    1. basolateral plasma membrane Source: UniProtKB-SubCell
    2. cell junction Source: UniProtKB-KW
    3. cytosol Source: ProtInc
    4. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    5. integral component of membrane Source: ProtInc
    6. synaptic vesicle membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cytoplasmic vesicle, Endoplasmic reticulum, Membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti490 – 4901P → Q in DFNB9. 2 Publications
    VAR_032228
    Natural varianti515 – 5151I → T in DFNB9 and AUNB1; temperature sensitive. 2 Publications
    VAR_032229
    Natural varianti794 – 7941R → H in DFNB9. 1 Publication
    Corresponds to variant rs80356592 [ dbSNP | Ensembl ].
    VAR_032232
    Natural varianti822 – 8221R → W in DFNB9; unknown pathological significance. 2 Publications
    Corresponds to variant rs80356570 [ dbSNP | Ensembl ].
    VAR_032233
    Natural varianti1011 – 10111L → P in AUNB1 and DFNB9. 2 Publications
    VAR_032234
    Natural varianti1825 – 18251P → A in DFNB9. 1 Publication
    Corresponds to variant rs28937591 [ dbSNP | Ensembl ].
    VAR_032239
    Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti255 – 2551Q → H in AUNB1. 1 Publication
    VAR_046003
    Natural varianti515 – 5151I → T in DFNB9 and AUNB1; temperature sensitive. 2 Publications
    VAR_032229
    Natural varianti964 – 9641A → E in AUNB1. 1 Publication
    VAR_046004
    Natural varianti1011 – 10111L → P in AUNB1 and DFNB9. 2 Publications
    VAR_032234
    Natural varianti1138 – 11381L → P in AUNB1. 1 Publication
    VAR_046005
    Natural varianti1795 – 17951F → C in AUNB1. 1 Publication
    VAR_046008
    Natural varianti1939 – 19391R → Q in AUNB1. 1 Publication
    VAR_032241
    Natural varianti1987 – 19871P → R in AUNB1. 1 Publication
    VAR_032242

    Keywords - Diseasei

    Deafness, Disease mutation, Neuropathy, Non-syndromic deafness

    Organism-specific databases

    MIMi601071. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBiPA32841.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 19971997OtoferlinPRO_0000057881Add
    BLAST

    Proteomic databases

    PaxDbiQ9HC10.
    PRIDEiQ9HC10.

    PTM databases

    PhosphoSiteiQ9HC10.

    Expressioni

    Tissue specificityi

    Isoform 1 and isoform 3 are found in adult brain. Isoform 2 is expressed in the fetus and in adult brain, heart, placenta, skeletal muscle and kidney.

    Gene expression databases

    BgeeiQ9HC10.
    CleanExiHS_OTOF.
    GenevestigatoriQ9HC10.

    Organism-specific databases

    HPAiHPA007502.
    HPA012410.

    Interactioni

    Subunit structurei

    Interacts with SNAP2; the interaction is direct. Interacts with STX1; the interaction is direct. Interacts with RAB8B By similarity.By similarity

    Protein-protein interaction databases

    BioGridi114782. 1 interaction.
    STRINGi9606.ENSP00000272371.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HC10.
    SMRiQ9HC10. Positions 1-124, 418-522, 962-1052, 1494-1574.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 19631963CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1985 – 199713ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1964 – 198421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini241 – 33898C2 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini404 – 514111C2 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini947 – 1052106C2 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini1479 – 157799C2 4PROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili792 – 82130Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1303 – 13108Poly-Lys
    Compositional biasi1314 – 13207Poly-Glu
    Compositional biasi1965 – 198319Poly-LeuAdd
    BLAST

    Domaini

    The N-terminal first 124 residues can be classified as C2 domain, based on their 3D-structure. They are not sufficient for calcium ion or phospholipid binding By similarity.By similarity

    Sequence similaritiesi

    Belongs to the ferlin family.Curated
    Contains 4 C2 domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat, Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG5038.
    HOVERGENiHBG108221.
    OMAiCMRELEN.
    OrthoDBiEOG7J9VNQ.
    PhylomeDBiQ9HC10.
    TreeFamiTF316871.

    Family and domain databases

    Gene3Di2.60.40.150. 8 hits.
    InterProiIPR000008. C2_dom.
    IPR012968. FerIin-domain.
    IPR012561. Ferlin_B-domain.
    [Graphical view]
    PfamiPF00168. C2. 7 hits.
    PF08150. FerB. 1 hit.
    PF08151. FerI. 1 hit.
    [Graphical view]
    SMARTiSM00239. C2. 6 hits.
    [Graphical view]
    SUPFAMiSSF49562. SSF49562. 8 hits.
    PROSITEiPS50004. C2. 4 hits.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q9HC10-1) [UniParc]FASTAAdd to Basket

    Also known as: Long

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MALLIHLKTV SELRGRGDRI AKVTFRGQSF YSRVLENCED VADFDETFRW     50
    PVASSIDRNE MLEIQVFNYS KVFSNKLIGT FRMVLQKVVE ESHVEVTDTL 100
    IDDNNAIIKT SLCVEVRYQA TDGTVGSWDD GDFLGDESLQ EEEKDSQETD 150
    GLLPGSRPSS RPPGEKSFRR AGRSVFSAMK LGKNRSHKEE PQRPDEPAVL 200
    EMEDLDHLAI RLGDGLDPDS VSLASVTALT TNVSNKRSKP DIKMEPSAGR 250
    PMDYQVSITV IEARQLVGLN MDPVVCVEVG DDKKYTSMKE STNCPYYNEY 300
    FVFDFHVSPD VMFDKIIKIS VIHSKNLLRS GTLVGSFKMD VGTVYSQPEH 350
    QFHHKWAILS DPDDISSGLK GYVKCDVAVV GKGDNIKTPH KANETDEDDI 400
    EGNLLLPEGV PPERQWARFY VKIYRAEGLP RMNTSLMANV KKAFIGENKD 450
    LVDPYVQVFF AGQKGKTSVQ KSSYEPLWNE QVVFTDLFPP LCKRMKVQIR 500
    DSDKVNDVAI GTHFIDLRKI SNDGDKGFLP TLGPAWVNMY GSTRNYTLLD 550
    EHQDLNEGLG EGVSFRARLL LGLAVEIVDT SNPELTSSTE VQVEQATPIS 600
    ESCAGKMEEF FLFGAFLEAS MIDRRNGDKP ITFEVTIGNY GNEVDGLSRP 650
    QRPRPRKEPG DEEEVDLIQN ASDDEAGDAG DLASVSSTPP MRPQVTDRNY 700
    FHLPYLERKP CIYIKSWWPD QRRRLYNANI MDHIADKLEE GLNDIQEMIK 750
    TEKSYPERRL RGVLEELSCG CCRFLSLADK DQGHSSRTRL DRERLKSCMR 800
    ELENMGQQAR MLRAQVKRHT VRDKLRLCQN FLQKLRFLAD EPQHSIPDIF 850
    IWMMSNNKRV AYARVPSKDL LFSIVEEETG KDCAKVKTLF LKLPGKRGFG 900
    SAGWTVQAKV ELYLWLGLSK QRKEFLCGLP CGFQEVKAAQ GLGLHAFPPV 950
    SLVYTKKQAF QLRAHMYQAR SLFAADSSGL SDPFARVFFI NQSQCTEVLN 1000
    ETLCPTWDQM LVFDNLELYG EAHELRDDPP IIVIEIYDQD SMGKADFMGR 1050
    TFAKPLVKMA DEAYCPPRFP PQLEYYQIYR GNATAGDLLA AFELLQIGPA 1100
    GKADLPPING PVDVDRGPIM PVPMGIRPVL SKYRVEVLFW GLRDLKRVNL 1150
    AQVDRPRVDI ECAGKGVQSS LIHNYKKNPN FNTLVKWFEV DLPENELLHP 1200
    PLNIRVVDCR AFGRYTLVGS HAVSSLRRFI YRPPDRSAPS WNTTVRLLRR 1250
    CRVLCNGGSS SHSTGEVVVT MEPEVPIKKL ETMVKLDATS EAVVKVDVAE 1300
    EEKEKKKKKK GTAEEPEEEE PDESMLDWWS KYFASIDTMK EQLRQQEPSG 1350
    IDLEEKEEVD NTEGLKGSMK GKEKARAAKE EKKKKTQSSG SGQGSEAPEK 1400
    KKPKIDELKV YPKELESEFD NFEDWLHTFN LLRGKTGDDE DGSTEEERIV 1450
    GRFKGSLCVY KVPLPEDVSR EAGYDSTYGM FQGIPSNDPI NVLVRVYVVR 1500
    ATDLHPADIN GKADPYIAIR LGKTDIRDKE NYISKQLNPV FGKSFDIEAS 1550
    FPMESMLTVA VYDWDLVGTD DLIGETKIDL ENRFYSKHRA TCGIAQTYST 1600
    HGYNIWRDPM KPSQILTRLC KDGKVDGPHF GPPGRVKVAN RVFTGPSEIE 1650
    DENGQRKPTD EHVALLALRH WEDIPRAGCR LVPEHVETRP LLNPDKPGIE 1700
    QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIIWN TDEVVLEDDD 1750
    FFTGEKSSDI FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL 1800
    AAEEKIVISK KESMFSWDET EYKIPARLTL QIWDADHFSA DDFLGAIELD 1850
    LNRFPRGAKT AKQCTMEMAT GEVDVPLVSI FKQKRVKGWW PLLARNENDE 1900
    FELTGKVEAE LHLLTAEEAE KNPVGLARNE PDPLEKPNRP DTSFIWFLNP 1950
    LKSARYFLWH TYRWLLLKLL LLLLLLLLLA LFLYSVPGYL VKKILGA 1997
    Length:1,997
    Mass (Da):226,753
    Last modified:October 17, 2006 - v3
    Checksum:i24DE196371FB7385
    GO
    Isoform 2 (identifier: Q9HC10-2) [UniParc]FASTAAdd to Basket

    Also known as: Short-1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-747: Missing.
         1245-1264: Missing.
         1943-1997: SFIWFLNPLK...GYLVKKILGA → AFVWFLNPLK...GYMVKKLLGA

    Show »
    Length:1,230
    Mass (Da):140,295
    Checksum:i4DE2F70848ED18E3
    GO
    Isoform 3 (identifier: Q9HC10-3) [UniParc]FASTAAdd to Basket

    Also known as: Short-2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-690: Missing.
         691-738: MRPQVTDRNY...NIMDHIADKL → MMTDTQDGPS...PSITHTPDSQ

    Show »
    Length:1,307
    Mass (Da):148,927
    Checksum:iCDB151AA2CB43174
    GO
    Isoform 4 (identifier: Q9HC10-4) [UniParc]FASTAAdd to Basket

    Also known as: Short-3

    The sequence of this isoform differs from the canonical sequence as follows:
         1-747: Missing.
         1245-1264: Missing.

    Show »
    Length:1,230
    Mass (Da):140,513
    Checksum:iDE8475F1756298EE
    GO
    Isoform 5 (identifier: Q9HC10-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1943-1997: SFIWFLNPLK...GYLVKKILGA → AFVWFLNPLK...GYMVKKLLGA

    Show »
    Length:1,997
    Mass (Da):226,535
    Checksum:iB7B89B9A4C74F388
    GO

    Sequence cautioni

    The sequence BAG58982.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1088 – 10881L → P in AAD26117. (PubMed:10192385)Curated
    Sequence conflicti1088 – 10881L → P in AAG12992. (PubMed:10903124)Curated
    Sequence conflicti1088 – 10881L → P in AAG17468. (PubMed:10903124)Curated
    Sequence conflicti1787 – 17871G → S in BAG58982. (PubMed:14702039)Curated
    Isoform 3 (identifier: Q9HC10-3)
    Sequence conflicti21 – 211P → L in AAG12992. (PubMed:10903124)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531A → V.1 Publication
    Corresponds to variant rs1879761 [ dbSNP | Ensembl ].
    VAR_032226
    Natural varianti82 – 821R → C.2 Publications
    Corresponds to variant rs13031859 [ dbSNP | Ensembl ].
    VAR_032227
    Natural varianti255 – 2551Q → H in AUNB1. 1 Publication
    VAR_046003
    Natural varianti490 – 4901P → Q in DFNB9. 2 Publications
    VAR_032228
    Natural varianti515 – 5151I → T in DFNB9 and AUNB1; temperature sensitive. 2 Publications
    VAR_032229
    Natural varianti575 – 5751V → M.1 Publication
    Corresponds to variant rs55676840 [ dbSNP | Ensembl ].
    VAR_032230
    Natural varianti773 – 7731R → S.2 Publications
    VAR_032231
    Natural varianti794 – 7941R → H in DFNB9. 1 Publication
    Corresponds to variant rs80356592 [ dbSNP | Ensembl ].
    VAR_032232
    Natural varianti818 – 8181R → W.
    Corresponds to variant rs2272070 [ dbSNP | Ensembl ].
    VAR_028028
    Natural varianti822 – 8221R → W in DFNB9; unknown pathological significance. 2 Publications
    Corresponds to variant rs80356570 [ dbSNP | Ensembl ].
    VAR_032233
    Natural varianti964 – 9641A → E in AUNB1. 1 Publication
    VAR_046004
    Natural varianti1011 – 10111L → P in AUNB1 and DFNB9. 2 Publications
    VAR_032234
    Natural varianti1083 – 10831A → P.1 Publication
    Corresponds to variant rs80356574 [ dbSNP | Ensembl ].
    VAR_032235
    Natural varianti1138 – 11381L → P in AUNB1. 1 Publication
    VAR_046005
    Natural varianti1157 – 11571R → Q.1 Publication
    Corresponds to variant rs56054534 [ dbSNP | Ensembl ].
    VAR_032236
    Natural varianti1236 – 12361R → Q.1 Publication
    VAR_046006
    Natural varianti1322 – 13221D → E.1 Publication
    Corresponds to variant rs80356576 [ dbSNP | Ensembl ].
    VAR_032237
    Natural varianti1323 – 13231E → K in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035895
    Natural varianti1547 – 15471I → V in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035896
    Natural varianti1625 – 16251V → M.1 Publication
    VAR_032238
    Natural varianti1646 – 16461P → S.1 Publication
    Corresponds to variant rs17005371 [ dbSNP | Ensembl ].
    VAR_028029
    Natural varianti1680 – 16801R → H.
    Corresponds to variant rs11893228 [ dbSNP | Ensembl ].
    VAR_028030
    Natural varianti1688 – 16881T → K.1 Publication
    VAR_046007
    Natural varianti1795 – 17951F → C in AUNB1. 1 Publication
    VAR_046008
    Natural varianti1825 – 18251P → A in DFNB9. 1 Publication
    Corresponds to variant rs28937591 [ dbSNP | Ensembl ].
    VAR_032239
    Natural varianti1886 – 18861V → A.
    Corresponds to variant rs45442103 [ dbSNP | Ensembl ].
    VAR_049057
    Natural varianti1888 – 18881G → D.1 Publication
    VAR_032240
    Natural varianti1939 – 19391R → Q in AUNB1. 1 Publication
    VAR_032241
    Natural varianti1987 – 19871P → R in AUNB1. 1 Publication
    VAR_032242

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 747747Missing in isoform 2 and isoform 4. 2 PublicationsVSP_001507Add
    BLAST
    Alternative sequencei1 – 690690Missing in isoform 3. 1 PublicationVSP_001509Add
    BLAST
    Alternative sequencei691 – 73848MRPQV…IADKL → MMTDTQDGPSESSQIMRSLT PLINREEAFGEAGEAGLWPS ITHTPDSQ in isoform 3. 1 PublicationVSP_001510Add
    BLAST
    Alternative sequencei1245 – 126420Missing in isoform 2 and isoform 4. 2 PublicationsVSP_001508Add
    BLAST
    Alternative sequencei1943 – 199755SFIWF…KILGA → AFVWFLNPLKSIKYLICTRY KWLIIKIVLALLGLLMLGLF LYSLPGYMVKKLLGA in isoform 2 and isoform 5. 2 PublicationsVSP_001511Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF107403 mRNA. Translation: AAD26117.1.
    AF183185 mRNA. Translation: AAG12991.1.
    AF183186 mRNA. Translation: AAG12992.1.
    AF183187 mRNA. Translation: AAG17468.1.
    AC093378 Genomic DNA. Translation: AAY15083.1.
    AC108070 Genomic DNA. No translation available.
    CH471053 Genomic DNA. Translation: EAX00684.1.
    CH471053 Genomic DNA. Translation: EAX00686.1.
    AK296272 mRNA. Translation: BAG58982.1. Different initiation.
    CCDSiCCDS1724.1. [Q9HC10-2]
    CCDS1725.1. [Q9HC10-1]
    CCDS1726.1. [Q9HC10-4]
    CCDS46241.1. [Q9HC10-3]
    RefSeqiNP_001274418.1. NM_001287489.1. [Q9HC10-5]
    NP_004793.2. NM_004802.3. [Q9HC10-4]
    NP_919224.1. NM_194248.2. [Q9HC10-1]
    NP_919303.1. NM_194322.2. [Q9HC10-3]
    NP_919304.1. NM_194323.2. [Q9HC10-2]
    UniGeneiHs.91608.

    Genome annotation databases

    EnsembliENST00000272371; ENSP00000272371; ENSG00000115155. [Q9HC10-1]
    ENST00000338581; ENSP00000345137; ENSG00000115155. [Q9HC10-4]
    ENST00000339598; ENSP00000344521; ENSG00000115155. [Q9HC10-2]
    ENST00000402415; ENSP00000383906; ENSG00000115155. [Q9HC10-3]
    ENST00000403946; ENSP00000385255; ENSG00000115155. [Q9HC10-5]
    GeneIDi9381.
    KEGGihsa:9381.
    UCSCiuc002rhh.3. human. [Q9HC10-4]
    uc002rhi.3. human. [Q9HC10-3]
    uc002rhj.3. human. [Q9HC10-2]
    uc002rhk.3. human. [Q9HC10-1]

    Polymorphism databases

    DMDMi116242695.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF107403 mRNA. Translation: AAD26117.1 .
    AF183185 mRNA. Translation: AAG12991.1 .
    AF183186 mRNA. Translation: AAG12992.1 .
    AF183187 mRNA. Translation: AAG17468.1 .
    AC093378 Genomic DNA. Translation: AAY15083.1 .
    AC108070 Genomic DNA. No translation available.
    CH471053 Genomic DNA. Translation: EAX00684.1 .
    CH471053 Genomic DNA. Translation: EAX00686.1 .
    AK296272 mRNA. Translation: BAG58982.1 . Different initiation.
    CCDSi CCDS1724.1. [Q9HC10-2 ]
    CCDS1725.1. [Q9HC10-1 ]
    CCDS1726.1. [Q9HC10-4 ]
    CCDS46241.1. [Q9HC10-3 ]
    RefSeqi NP_001274418.1. NM_001287489.1. [Q9HC10-5 ]
    NP_004793.2. NM_004802.3. [Q9HC10-4 ]
    NP_919224.1. NM_194248.2. [Q9HC10-1 ]
    NP_919303.1. NM_194322.2. [Q9HC10-3 ]
    NP_919304.1. NM_194323.2. [Q9HC10-2 ]
    UniGenei Hs.91608.

    3D structure databases

    ProteinModelPortali Q9HC10.
    SMRi Q9HC10. Positions 1-124, 418-522, 962-1052, 1494-1574.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114782. 1 interaction.
    STRINGi 9606.ENSP00000272371.

    PTM databases

    PhosphoSitei Q9HC10.

    Polymorphism databases

    DMDMi 116242695.

    Proteomic databases

    PaxDbi Q9HC10.
    PRIDEi Q9HC10.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000272371 ; ENSP00000272371 ; ENSG00000115155 . [Q9HC10-1 ]
    ENST00000338581 ; ENSP00000345137 ; ENSG00000115155 . [Q9HC10-4 ]
    ENST00000339598 ; ENSP00000344521 ; ENSG00000115155 . [Q9HC10-2 ]
    ENST00000402415 ; ENSP00000383906 ; ENSG00000115155 . [Q9HC10-3 ]
    ENST00000403946 ; ENSP00000385255 ; ENSG00000115155 . [Q9HC10-5 ]
    GeneIDi 9381.
    KEGGi hsa:9381.
    UCSCi uc002rhh.3. human. [Q9HC10-4 ]
    uc002rhi.3. human. [Q9HC10-3 ]
    uc002rhj.3. human. [Q9HC10-2 ]
    uc002rhk.3. human. [Q9HC10-1 ]

    Organism-specific databases

    CTDi 9381.
    GeneCardsi GC02M026591.
    GeneReviewsi OTOF.
    HGNCi HGNC:8515. OTOF.
    HPAi HPA007502.
    HPA012410.
    MIMi 601071. phenotype.
    603681. gene.
    neXtProti NX_Q9HC10.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBi PA32841.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5038.
    HOVERGENi HBG108221.
    OMAi CMRELEN.
    OrthoDBi EOG7J9VNQ.
    PhylomeDBi Q9HC10.
    TreeFami TF316871.

    Miscellaneous databases

    GeneWikii OTOF.
    GenomeRNAii 9381.
    NextBioi 35152.
    PROi Q9HC10.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9HC10.
    CleanExi HS_OTOF.
    Genevestigatori Q9HC10.

    Family and domain databases

    Gene3Di 2.60.40.150. 8 hits.
    InterProi IPR000008. C2_dom.
    IPR012968. FerIin-domain.
    IPR012561. Ferlin_B-domain.
    [Graphical view ]
    Pfami PF00168. C2. 7 hits.
    PF08150. FerB. 1 hit.
    PF08151. FerI. 1 hit.
    [Graphical view ]
    SMARTi SM00239. C2. 6 hits.
    [Graphical view ]
    SUPFAMi SSF49562. SSF49562. 8 hits.
    PROSITEi PS50004. C2. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness."
      Yasunaga S., Grati M., Cohen-Salmon M., El-Amraoui A., Mustapha M., Salem N., El-Zir E., Loiselet J., Petit C.
      Nat. Genet. 21:363-369(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), INVOLVEMENT IN DFNB9.
      Tissue: Fetus.
    2. "OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9."
      Yasunaga S., Grati M., Chardenoux S., Smith T.N., Friedman T.B., Lalwani A.K., Wilcox E.R., Petit C.
      Am. J. Hum. Genet. 67:591-600(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), ALTERNATIVE SPLICING.
      Tissue: Brain.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1174-1997 (ISOFORM 5).
      Tissue: Thalamus.
    6. "Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss."
      Migliosi V., Modamio-Hoeybjoer S., Moreno-Pelayo M.A., Rodriguez-Ballesteros M., Villamar M., Telleria D., Menendez I., Moreno F., Del Castillo I.
      J. Med. Genet. 39:502-506(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CYS-82 AND SER-773.
    7. "Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness."
      Mirghomizadeh F., Pfister M., Apaydin F., Petit C., Kupka S., Pusch C.M., Zenner H.P., Blin N.
      Neurobiol. Dis. 10:157-164(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DFNB9 GLN-490 AND THR-515.
    8. "A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy."
      Tekin M., Akcayoz D., Incesulu A.
      Am. J. Med. Genet. A 138:6-10(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNB9 PRO-1011.
    9. "Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing."
      Hutchin T., Coy N.N., Conlon H., Telford E., Bromelow K., Blaydon D., Taylor G., Coghill E., Brown S., Trembath R., Liu X.Z., Bitner-Glindzicz M., Mueller R.
      Clin. Genet. 68:506-512(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNB9 TRP-822.
    10. "OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele."
      Varga R., Avenarius M.R., Kelley P.M., Keats B.J., Berlin C.I., Hood L.J., Morlet T.G., Brashears S.M., Starr A., Cohn E.S., Smith R.J.H., Kimberling W.J.
      J. Med. Genet. 43:576-581(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DFNB9 GLN-490; HIS-794 AND ALA-1825, VARIANTS AUNB1 THR-515; PRO-1011; GLN-1939 AND ARG-1987, VARIANTS VAL-53; CYS-82; MET-575; SER-773; TRP-822; PRO-1083; GLN-1157; GLU-1322; MET-1625; SER-1646 AND ASP-1888.
    11. Cited for: VARIANTS [LARGE SCALE ANALYSIS] LYS-1323 AND VAL-1547.
    12. Cited for: VARIANTS AUNB1 HIS-255; GLU-964; PRO-1138 AND CYS-1795, VARIANTS GLN-1236 AND LYS-1688.

    Entry informationi

    Entry nameiOTOF_HUMAN
    AccessioniPrimary (citable) accession number: Q9HC10
    Secondary accession number(s): B4DJX0
    , B5MCC1, B9A0H6, Q53R90, Q9HC08, Q9HC09, Q9Y650
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 130 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3