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Q9ESF1

- OTOF_MOUSE

UniProt

Q9ESF1 - OTOF_MOUSE

Protein

Otoferlin

Gene

Otof

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      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.3 Publications

    Cofactori

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

    GO - Molecular functioni

    1. AP-2 adaptor complex binding Source: MGI
    2. calcium ion binding Source: UniProtKB
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. sensory perception of sound Source: UniProtKB-KW
    2. 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
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 5

    Organism-specific databases

    MGIiMGI:1891247. Otof.

    Subcellular locationi

    Cytoplasmic vesiclesecretory vesiclesynaptic vesicle membrane; Single-pass type II membrane protein. Basolateral cell membrane; Single-pass type II membrane protein. Endoplasmic reticulum membrane; Single-pass type II membrane protein. Cell membrane; Single-pass type II membrane protein
    Note: Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs) at postnatal day 30 (P30). Colocalizes with GPR25 and RAB8B in inner hair cells.

    GO - Cellular componenti

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

    Keywords - Cellular componenti

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 19971997OtoferlinPRO_0000057882Add
    BLAST

    Proteomic databases

    PaxDbiQ9ESF1.
    PRIDEiQ9ESF1.

    PTM databases

    PhosphoSiteiQ9ESF1.

    Expressioni

    Tissue specificityi

    Isoform 1 is expressed in cochlea and brain. Expressed in the cochlear and vestibular hair cells. Expressed in both inner and outer hair cells (IHCs and OHCs) and cochlear ganglions neurons at postnatal day 2 (P2) and 6 (P6). Expressed only in IHCs at postnatal day 60 (P60) (at protein level). Strongly expressed in brain and inner ear. In the inner ear, it is mainly expressed in the cochlear IHC and vestibular type I sensory hair cells. Weakly expressed in eye, heart, skeletal muscle, liver, kidney, lung and testis.4 Publications

    Developmental stagei

    Expressed in the organ of Corti in the inner hair cells (IHCs), but not in the outer hair cells (OHCs) at 16 dpc. Expressed strongly in the IHCs and faintly in the OHCs at 18 dpc (at protein level).1 Publication

    Gene expression databases

    BgeeiQ9ESF1.
    CleanExiMM_OTOF.
    GenevestigatoriQ9ESF1.

    Interactioni

    Subunit structurei

    Interacts with SNAP25; the interaction is direct. Interacts with STX1; the interaction is direct. Interacts with RAB8B.2 Publications

    Protein-protein interaction databases

    IntActiQ9ESF1. 1 interaction.
    STRINGi10090.ENSMUSP00000073803.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9ESF1.
    SMRiQ9ESF1. Positions 1-124.
    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
    Domaini240 – 33798C2 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini403 – 513111C2 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini946 – 1051106C2 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini1479 – 157799C2 4PROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili791 – 82030Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1305 – 13106Poly-Lys
    Compositional biasi1314 – 13207Poly-Glu
    Compositional biasi1970 – 19789Poly-Leu

    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.
    GeneTreeiENSGT00550000074414.
    HOGENOMiHOG000006770.
    HOVERGENiHBG108221.
    InParanoidiQ9ESF1.
    OrthoDBiEOG7J9VNQ.
    PhylomeDBiQ9ESF1.

    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]
    PRINTSiPR00360. C2DOMAIN.
    SMARTiSM00239. C2. 6 hits.
    [Graphical view]
    SUPFAMiSSF49562. SSF49562. 8 hits.
    PROSITEiPS50004. C2. 4 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q9ESF1-1) [UniParc]FASTAAdd to Basket

    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

    MALIVHLKTV SELRGKGDRI AKVTFRGQSF YSRVLENCEG VADFDETFRW     50
    PVASSIDRNE VLEIQIFNYS KVFSNKLIGT FCMVLQKVVE ENRVEVTDTL 100
    MDDSNAIIKT SLSMEVRYQA TDGTVGPWDD GDFLGDESLQ EEKDSQETDG 150
    LLPGSRPSTR ISGEKSFRRA GRSVFSAMKL GKTRSHKEEP QRQDEPAVLE 200
    MEDLDHLAIQ LGDGLDPDSV SLASVTALTS NVSNKRSKPD IKMEPSAGRP 250
    MDYQVSITVI EARQLVGLNM DPVVCVEVGD DKKYTSMKES TNCPYYNEYF 300
    VFDFHVSPDV MFDKIIKISV IHSKNLLRSG TLVGSFKMDV GTVYSQPEHQ 350
    FHHKWAILSD PDDISAGLKG YVKCDVAVVG KGDNIKTPHK ANETDEDDIE 400
    GNLLLPEGVP PERQWARFYV KIYRAEGLPR MNTSLMANVK KAFIGENKDL 450
    VDPYVQVFFA GQKGKTSVQK SSYEPLWNEQ VVFTDLFPPL CKRMKVQIRD 500
    SDKVNDVAIG THFIDLRKIS NDGDKGFLPT LGPAWVNMYG STRNYTLLDE 550
    HQDLNEGLGE GVSFRARLML GLAVEILDTS NPELTSSTEV QVEQATPVSE 600
    SCTGRMEEFF LFGAFLEASM IDRKNGDKPI TFEVTIGNYG NEVDGMSRPL 650
    RPRPRKEPGD EEEVDLIQNS SDDEGDEAGD LASVSSTPPM RPQITDRNYF 700
    HLPYLERKPC IYIKSWWPDQ RRRLYNANIM DHIADKLEEG LNDVQEMIKT 750
    EKSYPERRLR GVLEELSCGC HRFLSLSDKD QGRSSRTRLD RERLKSCMRE 800
    LESMGQQAKS LRAQVKRHTV RDKLRLCQNF LQKLRFLADE PQHSIPDVFI 850
    WMMSNNKRIA YARVPSKDLL FSIVEEELGK DCAKVKTLFL KLPGKRGFGS 900
    AGWTVQAKLE LYLWLGLSKQ RKDFLCGLPC GFEEVKAAQG LGLHSFPPIS 950
    LVYTKKQAFQ LRAHMYQARS LFAADSSGLS DPFARVFFIN QSQCTEVLNE 1000
    TLCPTWDQML VFDNLELYGE AHELRDDPPI IVIEIYDQDS MGKADFMGRT 1050
    FAKPLVKMAD EAYCPPRFPP QLEYYQIYRG SATAGDLLAA FELLQIGPSG 1100
    KADLPPINGP VDMDRGPIMP VPVGIRPVLS KYRVEVLFWG LRDLKRVNLA 1150
    QVDRPRVDIE CAGKGVQSSL IHNYKKNPNF NTLVKWFEVD LPENELLHPP 1200
    LNIRVVDCRA FGRYTLVGSH AVSSLRRFIY RPPDRSAPNW NTTVRLLRGC 1250
    HRLRNGGPSS RPTGEVVVSM EPEEPVKKLE TMVKLDATSD AVVKVDVAED 1300
    EKERKKKKKK GPSEEPEEEE PDESMLDWWS KYFASIDTMK EQLRQHETSG 1350
    TDLEEKEEME SAEGLKGPMK SKEKSRAAKE EKKKKNQSPG PGQGSEAPEK 1400
    KKAKIDELKV YPKELESEFD SFEDWLHTFN LLRGKTGDDE DGSTEEERIV 1450
    GRFKGSLCVY KVPLPEDVSR EAGYDPTYGM FQGIPSNDPI NVLVRIYVVR 1500
    ATDLHPADIN GKADPYIAIK LGKTDIRDKE NYISKQLNPV FGKSFDIEAS 1550
    FPMESMLTVA VYDWDLVGTD DLIGETKIDL ENRFYSKHRA TCGIAQTYSI 1600
    HGYNIWRDPM KPSQILTRLC KEGKVDGPHF GPHGRVRVAN RVFTGPSEIE 1650
    DENGQRKPTD EHVALSALRH WEDIPRVGCR LVPEHVETRP LLNPDKPGIE 1700
    QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIVWN TDEVVLEDDD 1750
    FFTGEKSSDI FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL 1800
    AAEEKIVMSK KESMFSWDET EYKIPARLTL QIWDADHFSA DDFLGAIELD 1850
    LNRFPRGAKT AKQCTMEMAT GEVDVPLVSI FKQKRVKGWW PLLARNENDE 1900
    FELTGKVEAE LHLLTAEEAE KNPVGLARNE PDPLEKPNRP DTSFIWFLNP 1950
    LKSARYFLWH TYRWLLLKFL LLFLLLLLFA LFLYSLPGYL AKKILGA 1997
    Length:1,997
    Mass (Da):227,033
    Last modified:March 1, 2001 - v1
    Checksum:i7B9CCA918F79D4D1
    GO
    Isoform 2 (identifier: Q9ESF1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         169-169: R → SKGREETKGGRDGEHK
         1244-1263: Missing.
         1943-1997: SFIWFLNPLK...GYLAKKILGA → AFVWFLNPLK...GYMVKKLLGA

    Show »
    Length:1,992
    Mass (Da):226,123
    Checksum:iAE487C8E9652B1F6
    GO
    Isoform 3 (identifier: Q9ESF1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1244-1263: Missing.

    Show »
    Length:1,977
    Mass (Da):224,819
    Checksum:iA8E2C6737567EEF7
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti826 – 8261L → S in AAT40586. (PubMed:17055430)Curated
    Sequence conflicti955 – 9551K → E in BAC28229. (PubMed:16141072)Curated
    Sequence conflicti1853 – 18531R → Q in AAI50703. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei169 – 1691R → SKGREETKGGRDGEHK in isoform 2. 3 PublicationsVSP_001512
    Alternative sequencei1244 – 126320Missing in isoform 2 and isoform 3. 4 PublicationsVSP_001513Add
    BLAST
    Alternative sequencei1943 – 199755SFIWF…KILGA → AFVWFLNPLKSIKYLICTRY KWLIIKIVLALLGLLMLALF LYSLPGYMVKKLLGA in isoform 2. 3 PublicationsVSP_001514Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF183183 mRNA. Translation: AAG12989.1.
    AF183184 mRNA. Translation: AAG12990.1.
    AY586513 mRNA. Translation: AAT40586.1.
    BC150702 mRNA. Translation: AAI50703.1.
    AK033317 mRNA. Translation: BAC28229.1.
    CCDSiCCDS19157.1. [Q9ESF1-1]
    CCDS51452.1. [Q9ESF1-2]
    RefSeqiNP_001093865.1. NM_001100395.1.
    NP_001273350.1. NM_001286421.1.
    NP_114081.2. NM_031875.2.
    UniGeneiMm.244502.

    Genome annotation databases

    EnsembliENSMUST00000114747; ENSMUSP00000110395; ENSMUSG00000062372.
    GeneIDi83762.
    KEGGimmu:83762.
    UCSCiuc008wvl.1. mouse. [Q9ESF1-2]
    uc012dud.1. mouse. [Q9ESF1-3]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF183183 mRNA. Translation: AAG12989.1 .
    AF183184 mRNA. Translation: AAG12990.1 .
    AY586513 mRNA. Translation: AAT40586.1 .
    BC150702 mRNA. Translation: AAI50703.1 .
    AK033317 mRNA. Translation: BAC28229.1 .
    CCDSi CCDS19157.1. [Q9ESF1-1 ]
    CCDS51452.1. [Q9ESF1-2 ]
    RefSeqi NP_001093865.1. NM_001100395.1.
    NP_001273350.1. NM_001286421.1.
    NP_114081.2. NM_031875.2.
    UniGenei Mm.244502.

    3D structure databases

    ProteinModelPortali Q9ESF1.
    SMRi Q9ESF1. Positions 1-124.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9ESF1. 1 interaction.
    STRINGi 10090.ENSMUSP00000073803.

    PTM databases

    PhosphoSitei Q9ESF1.

    Proteomic databases

    PaxDbi Q9ESF1.
    PRIDEi Q9ESF1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000114747 ; ENSMUSP00000110395 ; ENSMUSG00000062372 .
    GeneIDi 83762.
    KEGGi mmu:83762.
    UCSCi uc008wvl.1. mouse. [Q9ESF1-2 ]
    uc012dud.1. mouse. [Q9ESF1-3 ]

    Organism-specific databases

    CTDi 9381.
    MGIi MGI:1891247. Otof.

    Phylogenomic databases

    eggNOGi COG5038.
    GeneTreei ENSGT00550000074414.
    HOGENOMi HOG000006770.
    HOVERGENi HBG108221.
    InParanoidi Q9ESF1.
    OrthoDBi EOG7J9VNQ.
    PhylomeDBi Q9ESF1.

    Miscellaneous databases

    NextBioi 350750.
    PROi Q9ESF1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9ESF1.
    CleanExi MM_OTOF.
    Genevestigatori Q9ESF1.

    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 ]
    PRINTSi PR00360. C2DOMAIN.
    SMARTi SM00239. C2. 6 hits.
    [Graphical view ]
    SUPFAMi SSF49562. SSF49562. 8 hits.
    PROSITEi PS50004. C2. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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 AND 2), ALTERNATIVE SPLICING.
      Tissue: Brain and Cochlea.
    2. "Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse."
      Roux I., Safieddine S., Nouvian R., Grati M., Simmler M.-C., Bahloul A., Perfettini I., Le Gall M., Rostaing P., Hamard G., Triller A., Avan P., Moser T., Petit C.
      Cell 127:277-289(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, INTERACTION WITH SNAP25 AND STX1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
      Strain: BALB/c.
      Tissue: Cochlea.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Brain.
    4. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 954-1997 (ISOFORM 2).
      Strain: C57BL/6J.
      Tissue: Testis.
    5. "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: TISSUE SPECIFICITY.
    6. "Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat."
      Schug N., Braig C., Zimmermann U., Engel J., Winter H., Ruth P., Blin N., Pfister M., Kalbacher H., Knipper M.
      Eur. J. Neurosci. 24:3372-3380(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    7. "Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form."
      Heidrych P., Zimmermann U., Bress A., Pusch C.M., Ruth P., Pfister M., Knipper M., Blin N.
      Hum. Mol. Genet. 17:3814-3821(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH RAB8B, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    8. "Calcium- and otoferlin-dependent exocytosis by immature outer hair cells."
      Beurg M., Safieddine S., Roux I., Bouleau Y., Petit C., Dulon D.
      J. Neurosci. 28:1798-1803(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiOTOF_MOUSE
    AccessioniPrimary (citable) accession number: Q9ESF1
    Secondary accession number(s): A3KLM3
    , B2RWU0, Q8CCE7, Q9ESF2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 102 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Miscellaneous

    Mice lacking Otof display hearing loss. Both outer hair cells (OHCs) and the afferent auditory pathway are functional. Despite normal inner hair cells (IHCs) and ribbon synapse ultrastructures, these mice exhibit an almost complete abolition of IHC synaptic exocytosis in response to cell depolarization.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3