Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9ESF1

- OTOF_MOUSE

UniProt

Q9ESF1 - OTOF_MOUSE

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Otoferlin

Gene

Otof

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

Ca2+Note: Binds Ca(2+). 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

GO - Biological processi

  1. sensory perception of sound Source: UniProtKB-KW
  2. synaptic vesicle exocytosis Source: UniProtKB
Complete GO annotation...

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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 19631963CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1964 – 198421HelicalSequence AnalysisAdd
BLAST
Topological domaini1985 – 199713ExtracellularSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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.
ExpressionAtlasiQ9ESF1. baseline.
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...

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

        10         20         30         40         50
MALIVHLKTV SELRGKGDRI AKVTFRGQSF YSRVLENCEG VADFDETFRW
60 70 80 90 100
PVASSIDRNE VLEIQIFNYS KVFSNKLIGT FCMVLQKVVE ENRVEVTDTL
110 120 130 140 150
MDDSNAIIKT SLSMEVRYQA TDGTVGPWDD GDFLGDESLQ EEKDSQETDG
160 170 180 190 200
LLPGSRPSTR ISGEKSFRRA GRSVFSAMKL GKTRSHKEEP QRQDEPAVLE
210 220 230 240 250
MEDLDHLAIQ LGDGLDPDSV SLASVTALTS NVSNKRSKPD IKMEPSAGRP
260 270 280 290 300
MDYQVSITVI EARQLVGLNM DPVVCVEVGD DKKYTSMKES TNCPYYNEYF
310 320 330 340 350
VFDFHVSPDV MFDKIIKISV IHSKNLLRSG TLVGSFKMDV GTVYSQPEHQ
360 370 380 390 400
FHHKWAILSD PDDISAGLKG YVKCDVAVVG KGDNIKTPHK ANETDEDDIE
410 420 430 440 450
GNLLLPEGVP PERQWARFYV KIYRAEGLPR MNTSLMANVK KAFIGENKDL
460 470 480 490 500
VDPYVQVFFA GQKGKTSVQK SSYEPLWNEQ VVFTDLFPPL CKRMKVQIRD
510 520 530 540 550
SDKVNDVAIG THFIDLRKIS NDGDKGFLPT LGPAWVNMYG STRNYTLLDE
560 570 580 590 600
HQDLNEGLGE GVSFRARLML GLAVEILDTS NPELTSSTEV QVEQATPVSE
610 620 630 640 650
SCTGRMEEFF LFGAFLEASM IDRKNGDKPI TFEVTIGNYG NEVDGMSRPL
660 670 680 690 700
RPRPRKEPGD EEEVDLIQNS SDDEGDEAGD LASVSSTPPM RPQITDRNYF
710 720 730 740 750
HLPYLERKPC IYIKSWWPDQ RRRLYNANIM DHIADKLEEG LNDVQEMIKT
760 770 780 790 800
EKSYPERRLR GVLEELSCGC HRFLSLSDKD QGRSSRTRLD RERLKSCMRE
810 820 830 840 850
LESMGQQAKS LRAQVKRHTV RDKLRLCQNF LQKLRFLADE PQHSIPDVFI
860 870 880 890 900
WMMSNNKRIA YARVPSKDLL FSIVEEELGK DCAKVKTLFL KLPGKRGFGS
910 920 930 940 950
AGWTVQAKLE LYLWLGLSKQ RKDFLCGLPC GFEEVKAAQG LGLHSFPPIS
960 970 980 990 1000
LVYTKKQAFQ LRAHMYQARS LFAADSSGLS DPFARVFFIN QSQCTEVLNE
1010 1020 1030 1040 1050
TLCPTWDQML VFDNLELYGE AHELRDDPPI IVIEIYDQDS MGKADFMGRT
1060 1070 1080 1090 1100
FAKPLVKMAD EAYCPPRFPP QLEYYQIYRG SATAGDLLAA FELLQIGPSG
1110 1120 1130 1140 1150
KADLPPINGP VDMDRGPIMP VPVGIRPVLS KYRVEVLFWG LRDLKRVNLA
1160 1170 1180 1190 1200
QVDRPRVDIE CAGKGVQSSL IHNYKKNPNF NTLVKWFEVD LPENELLHPP
1210 1220 1230 1240 1250
LNIRVVDCRA FGRYTLVGSH AVSSLRRFIY RPPDRSAPNW NTTVRLLRGC
1260 1270 1280 1290 1300
HRLRNGGPSS RPTGEVVVSM EPEEPVKKLE TMVKLDATSD AVVKVDVAED
1310 1320 1330 1340 1350
EKERKKKKKK GPSEEPEEEE PDESMLDWWS KYFASIDTMK EQLRQHETSG
1360 1370 1380 1390 1400
TDLEEKEEME SAEGLKGPMK SKEKSRAAKE EKKKKNQSPG PGQGSEAPEK
1410 1420 1430 1440 1450
KKAKIDELKV YPKELESEFD SFEDWLHTFN LLRGKTGDDE DGSTEEERIV
1460 1470 1480 1490 1500
GRFKGSLCVY KVPLPEDVSR EAGYDPTYGM FQGIPSNDPI NVLVRIYVVR
1510 1520 1530 1540 1550
ATDLHPADIN GKADPYIAIK LGKTDIRDKE NYISKQLNPV FGKSFDIEAS
1560 1570 1580 1590 1600
FPMESMLTVA VYDWDLVGTD DLIGETKIDL ENRFYSKHRA TCGIAQTYSI
1610 1620 1630 1640 1650
HGYNIWRDPM KPSQILTRLC KEGKVDGPHF GPHGRVRVAN RVFTGPSEIE
1660 1670 1680 1690 1700
DENGQRKPTD EHVALSALRH WEDIPRVGCR LVPEHVETRP LLNPDKPGIE
1710 1720 1730 1740 1750
QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIVWN TDEVVLEDDD
1760 1770 1780 1790 1800
FFTGEKSSDI FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL
1810 1820 1830 1840 1850
AAEEKIVMSK KESMFSWDET EYKIPARLTL QIWDADHFSA DDFLGAIELD
1860 1870 1880 1890 1900
LNRFPRGAKT AKQCTMEMAT GEVDVPLVSI FKQKRVKGWW PLLARNENDE
1910 1920 1930 1940 1950
FELTGKVEAE LHLLTAEEAE KNPVGLARNE PDPLEKPNRP DTSFIWFLNP
1960 1970 1980 1990
LKSARYFLWH TYRWLLLKFL LLFLLLLLFA LFLYSLPGYL AKKILGA
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
ExpressionAtlasi Q9ESF1. baseline.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 104 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