Q9ESF1 (OTOF_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Otoferlin

Alternative name(s):
Fer-1-like protein 2

Gene names

Name:	Otof
Synonyms:	Fer1l2

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	1997 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.2 Ref.7 Ref.8
Cofactor	Binds calcium ions. The ions are bound to the C2 1 domain.
Subunit structure	Interacts with SNAP25; the interaction is direct. Interacts with STX1; the interaction is direct. Interacts with RAB8B. Ref.2 Ref.7
Subcellular location	Cytoplasmic vesicle › secretory vesicle › synaptic 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. Ref.2 Ref.7 Ref.8
Tissue specificity	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. Ref.2 Ref.5 Ref.6 Ref.7
Developmental stage	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). Ref.2
Domain	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.
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.
Sequence similarities	Belongs to the ferlin family. Contains 4 C2 domains.

Ontologies

Keywords
Biological process	Hearing
Cellular component	Cell junction Cell membrane Cytoplasmic vesicle Endoplasmic reticulum Membrane Synapse
Coding sequence diversity	Alternative splicing
Domain	Coiled coil Repeat Signal-anchor Transmembrane Transmembrane helix
Ligand	Calcium
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	sensory perception of sound Inferred from electronic annotation. Source: UniProtKB-KW synaptic vesicle exocytosis Inferred from direct assay Ref.8. Source: UniProtKB
Cellular_component	basolateral plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell cell junction Inferred from electronic annotation. Source: UniProtKB-KW endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW synaptic vesicle membrane Inferred from direct assay Ref.2. Source: UniProtKB
Molecular_function	calcium ion binding Inferred from direct assay Ref.2. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q9ESF1-1)

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.

Isoform 2 (identifier: Q9ESF1-2)

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

Isoform 3 (identifier: Q9ESF1-3)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1997	1997	Otoferlin		PRO_0000057882
Regions
	Topological domain	1 – 1963	1963	Cytoplasmic Potential
	Transmembrane	1964 – 1984	21	Helical; Potential
	Topological domain	1985 – 1997	13	Extracellular Potential
	Domain	240 – 337	98	C2 1
	Domain	403 – 513	111	C2 2
	Domain	946 – 1051	106	C2 3
	Domain	1479 – 1577	99	C2 4
	Coiled coil	791 – 820	30	Potential
	Compositional bias	1305 – 1310	6	Poly-Lys
	Compositional bias	1314 – 1320	7	Poly-Glu
	Compositional bias	1970 – 1978	9	Poly-Leu
Amino acid modifications
	Modified residue	11	1	Phosphoserine Ref.9
Natural variations
	Alternative sequence	169	1	R → SKGREETKGGRDGEHK in isoform 2.		VSP_001512
	Alternative sequence	1244 – 1263	20	Missing in isoform 2 and isoform 3.		VSP_001513
	Alternative sequence	1943 – 1997	55	SFIWF…KILGA → AFVWFLNPLKSIKYLICTRY KWLIIKIVLALLGLLMLALF LYSLPGYMVKKLLGA in isoform 2.		VSP_001514
Experimental info
	Sequence conflict	826	1	L → S in AAT40586. Ref.2
	Sequence conflict	955	1	K → E in BAC28229. Ref.4
	Sequence conflict	1853	1	R → Q in AAI50703. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 7B9CCA918F79D4D1	FASTA	1,997	227,033
	10 20 30 40 50 60 MALIVHLKTV SELRGKGDRI AKVTFRGQSF YSRVLENCEG VADFDETFRW PVASSIDRNE 70 80 90 100 110 120 VLEIQIFNYS KVFSNKLIGT FCMVLQKVVE ENRVEVTDTL MDDSNAIIKT SLSMEVRYQA 130 140 150 160 170 180 TDGTVGPWDD GDFLGDESLQ EEKDSQETDG LLPGSRPSTR ISGEKSFRRA GRSVFSAMKL 190 200 210 220 230 240 GKTRSHKEEP QRQDEPAVLE MEDLDHLAIQ LGDGLDPDSV SLASVTALTS NVSNKRSKPD 250 260 270 280 290 300 IKMEPSAGRP MDYQVSITVI EARQLVGLNM DPVVCVEVGD DKKYTSMKES TNCPYYNEYF 310 320 330 340 350 360 VFDFHVSPDV MFDKIIKISV IHSKNLLRSG TLVGSFKMDV GTVYSQPEHQ FHHKWAILSD 370 380 390 400 410 420 PDDISAGLKG YVKCDVAVVG KGDNIKTPHK ANETDEDDIE GNLLLPEGVP PERQWARFYV 430 440 450 460 470 480 KIYRAEGLPR MNTSLMANVK KAFIGENKDL VDPYVQVFFA GQKGKTSVQK SSYEPLWNEQ 490 500 510 520 530 540 VVFTDLFPPL CKRMKVQIRD SDKVNDVAIG THFIDLRKIS NDGDKGFLPT LGPAWVNMYG 550 560 570 580 590 600 STRNYTLLDE HQDLNEGLGE GVSFRARLML GLAVEILDTS NPELTSSTEV QVEQATPVSE 610 620 630 640 650 660 SCTGRMEEFF LFGAFLEASM IDRKNGDKPI TFEVTIGNYG NEVDGMSRPL RPRPRKEPGD 670 680 690 700 710 720 EEEVDLIQNS SDDEGDEAGD LASVSSTPPM RPQITDRNYF HLPYLERKPC IYIKSWWPDQ 730 740 750 760 770 780 RRRLYNANIM DHIADKLEEG LNDVQEMIKT EKSYPERRLR GVLEELSCGC HRFLSLSDKD 790 800 810 820 830 840 QGRSSRTRLD RERLKSCMRE LESMGQQAKS LRAQVKRHTV RDKLRLCQNF LQKLRFLADE 850 860 870 880 890 900 PQHSIPDVFI WMMSNNKRIA YARVPSKDLL FSIVEEELGK DCAKVKTLFL KLPGKRGFGS 910 920 930 940 950 960 AGWTVQAKLE LYLWLGLSKQ RKDFLCGLPC GFEEVKAAQG LGLHSFPPIS LVYTKKQAFQ 970 980 990 1000 1010 1020 LRAHMYQARS LFAADSSGLS DPFARVFFIN QSQCTEVLNE TLCPTWDQML VFDNLELYGE 1030 1040 1050 1060 1070 1080 AHELRDDPPI IVIEIYDQDS MGKADFMGRT FAKPLVKMAD EAYCPPRFPP QLEYYQIYRG 1090 1100 1110 1120 1130 1140 SATAGDLLAA FELLQIGPSG KADLPPINGP VDMDRGPIMP VPVGIRPVLS KYRVEVLFWG 1150 1160 1170 1180 1190 1200 LRDLKRVNLA QVDRPRVDIE CAGKGVQSSL IHNYKKNPNF NTLVKWFEVD LPENELLHPP 1210 1220 1230 1240 1250 1260 LNIRVVDCRA FGRYTLVGSH AVSSLRRFIY RPPDRSAPNW NTTVRLLRGC HRLRNGGPSS 1270 1280 1290 1300 1310 1320 RPTGEVVVSM EPEEPVKKLE TMVKLDATSD AVVKVDVAED EKERKKKKKK GPSEEPEEEE 1330 1340 1350 1360 1370 1380 PDESMLDWWS KYFASIDTMK EQLRQHETSG TDLEEKEEME SAEGLKGPMK SKEKSRAAKE 1390 1400 1410 1420 1430 1440 EKKKKNQSPG PGQGSEAPEK KKAKIDELKV YPKELESEFD SFEDWLHTFN LLRGKTGDDE 1450 1460 1470 1480 1490 1500 DGSTEEERIV GRFKGSLCVY KVPLPEDVSR EAGYDPTYGM FQGIPSNDPI NVLVRIYVVR 1510 1520 1530 1540 1550 1560 ATDLHPADIN GKADPYIAIK LGKTDIRDKE NYISKQLNPV FGKSFDIEAS FPMESMLTVA 1570 1580 1590 1600 1610 1620 VYDWDLVGTD DLIGETKIDL ENRFYSKHRA TCGIAQTYSI HGYNIWRDPM KPSQILTRLC 1630 1640 1650 1660 1670 1680 KEGKVDGPHF GPHGRVRVAN RVFTGPSEIE DENGQRKPTD EHVALSALRH WEDIPRVGCR 1690 1700 1710 1720 1730 1740 LVPEHVETRP LLNPDKPGIE QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIVWN 1750 1760 1770 1780 1790 1800 TDEVVLEDDD FFTGEKSSDI FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL 1810 1820 1830 1840 1850 1860 AAEEKIVMSK KESMFSWDET EYKIPARLTL QIWDADHFSA DDFLGAIELD LNRFPRGAKT 1870 1880 1890 1900 1910 1920 AKQCTMEMAT GEVDVPLVSI FKQKRVKGWW PLLARNENDE FELTGKVEAE LHLLTAEEAE 1930 1940 1950 1960 1970 1980 KNPVGLARNE PDPLEKPNRP DTSFIWFLNP LKSARYFLWH TYRWLLLKFL LLFLLLLLFA 1990 LFLYSLPGYL AKKILGA
	Isoform 2 [UniParc]. Checksum: AE487C8E9652B1F6	FASTA	1,992	226,123
	10 20 30 40 50 60 MALIVHLKTV SELRGKGDRI AKVTFRGQSF YSRVLENCEG VADFDETFRW PVASSIDRNE 70 80 90 100 110 120 VLEIQIFNYS KVFSNKLIGT FCMVLQKVVE ENRVEVTDTL MDDSNAIIKT SLSMEVRYQA 130 140 150 160 170 180 TDGTVGPWDD GDFLGDESLQ EEKDSQETDG LLPGSRPSTR ISGEKSFRSK GREETKGGRD 190 200 210 220 230 240 GEHKAGRSVF SAMKLGKTRS HKEEPQRQDE PAVLEMEDLD HLAIQLGDGL DPDSVSLASV 250 260 270 280 290 300 TALTSNVSNK RSKPDIKMEP SAGRPMDYQV SITVIEARQL VGLNMDPVVC VEVGDDKKYT 310 320 330 340 350 360 SMKESTNCPY YNEYFVFDFH VSPDVMFDKI IKISVIHSKN LLRSGTLVGS FKMDVGTVYS 370 380 390 400 410 420 QPEHQFHHKW AILSDPDDIS AGLKGYVKCD VAVVGKGDNI KTPHKANETD EDDIEGNLLL 430 440 450 460 470 480 PEGVPPERQW ARFYVKIYRA EGLPRMNTSL MANVKKAFIG ENKDLVDPYV QVFFAGQKGK 490 500 510 520 530 540 TSVQKSSYEP LWNEQVVFTD LFPPLCKRMK VQIRDSDKVN DVAIGTHFID LRKISNDGDK 550 560 570 580 590 600 GFLPTLGPAW VNMYGSTRNY TLLDEHQDLN EGLGEGVSFR ARLMLGLAVE ILDTSNPELT 610 620 630 640 650 660 SSTEVQVEQA TPVSESCTGR MEEFFLFGAF LEASMIDRKN GDKPITFEVT IGNYGNEVDG 670 680 690 700 710 720 MSRPLRPRPR KEPGDEEEVD LIQNSSDDEG DEAGDLASVS STPPMRPQIT DRNYFHLPYL 730 740 750 760 770 780 ERKPCIYIKS WWPDQRRRLY NANIMDHIAD KLEEGLNDVQ EMIKTEKSYP ERRLRGVLEE 790 800 810 820 830 840 LSCGCHRFLS LSDKDQGRSS RTRLDRERLK SCMRELESMG QQAKSLRAQV KRHTVRDKLR 850 860 870 880 890 900 LCQNFLQKLR FLADEPQHSI PDVFIWMMSN NKRIAYARVP SKDLLFSIVE EELGKDCAKV 910 920 930 940 950 960 KTLFLKLPGK RGFGSAGWTV QAKLELYLWL GLSKQRKDFL CGLPCGFEEV KAAQGLGLHS 970 980 990 1000 1010 1020 FPPISLVYTK KQAFQLRAHM YQARSLFAAD SSGLSDPFAR VFFINQSQCT EVLNETLCPT 1030 1040 1050 1060 1070 1080 WDQMLVFDNL ELYGEAHELR DDPPIIVIEI YDQDSMGKAD FMGRTFAKPL VKMADEAYCP 1090 1100 1110 1120 1130 1140 PRFPPQLEYY QIYRGSATAG DLLAAFELLQ IGPSGKADLP PINGPVDMDR GPIMPVPVGI 1150 1160 1170 1180 1190 1200 RPVLSKYRVE VLFWGLRDLK RVNLAQVDRP RVDIECAGKG VQSSLIHNYK KNPNFNTLVK 1210 1220 1230 1240 1250 1260 WFEVDLPENE LLHPPLNIRV VDCRAFGRYT LVGSHAVSSL RRFIYRPPDR SAPNWNTTGE 1270 1280 1290 1300 1310 1320 VVVSMEPEEP VKKLETMVKL DATSDAVVKV DVAEDEKERK KKKKKGPSEE PEEEEPDESM 1330 1340 1350 1360 1370 1380 LDWWSKYFAS IDTMKEQLRQ HETSGTDLEE KEEMESAEGL KGPMKSKEKS RAAKEEKKKK 1390 1400 1410 1420 1430 1440 NQSPGPGQGS EAPEKKKAKI DELKVYPKEL ESEFDSFEDW LHTFNLLRGK TGDDEDGSTE 1450 1460 1470 1480 1490 1500 EERIVGRFKG SLCVYKVPLP EDVSREAGYD PTYGMFQGIP SNDPINVLVR IYVVRATDLH 1510 1520 1530 1540 1550 1560 PADINGKADP YIAIKLGKTD IRDKENYISK QLNPVFGKSF DIEASFPMES MLTVAVYDWD 1570 1580 1590 1600 1610 1620 LVGTDDLIGE TKIDLENRFY SKHRATCGIA QTYSIHGYNI WRDPMKPSQI LTRLCKEGKV 1630 1640 1650 1660 1670 1680 DGPHFGPHGR VRVANRVFTG PSEIEDENGQ RKPTDEHVAL SALRHWEDIP RVGCRLVPEH 1690 1700 1710 1720 1730 1740 VETRPLLNPD KPGIEQGRLE LWVDMFPMDM PAPGTPLDIS PRKPKKYELR VIVWNTDEVV 1750 1760 1770 1780 1790 1800 LEDDDFFTGE KSSDIFVRGW LKGQQEDKQD TDVHYHSLTG EGNFNWRYLF PFDYLAAEEK 1810 1820 1830 1840 1850 1860 IVMSKKESMF SWDETEYKIP ARLTLQIWDA DHFSADDFLG AIELDLNRFP RGAKTAKQCT 1870 1880 1890 1900 1910 1920 MEMATGEVDV PLVSIFKQKR VKGWWPLLAR NENDEFELTG KVEAELHLLT AEEAEKNPVG 1930 1940 1950 1960 1970 1980 LARNEPDPLE KPNRPDTAFV WFLNPLKSIK YLICTRYKWL IIKIVLALLG LLMLALFLYS 1990 LPGYMVKKLL GA
	Isoform 3 [UniParc]. Checksum: A8E2C6737567EEF7	FASTA	1,977	224,819
	10 20 30 40 50 60 MALIVHLKTV SELRGKGDRI AKVTFRGQSF YSRVLENCEG VADFDETFRW PVASSIDRNE 70 80 90 100 110 120 VLEIQIFNYS KVFSNKLIGT FCMVLQKVVE ENRVEVTDTL MDDSNAIIKT SLSMEVRYQA 130 140 150 160 170 180 TDGTVGPWDD GDFLGDESLQ EEKDSQETDG LLPGSRPSTR ISGEKSFRRA GRSVFSAMKL 190 200 210 220 230 240 GKTRSHKEEP QRQDEPAVLE MEDLDHLAIQ LGDGLDPDSV SLASVTALTS NVSNKRSKPD 250 260 270 280 290 300 IKMEPSAGRP MDYQVSITVI EARQLVGLNM DPVVCVEVGD DKKYTSMKES TNCPYYNEYF 310 320 330 340 350 360 VFDFHVSPDV MFDKIIKISV IHSKNLLRSG TLVGSFKMDV GTVYSQPEHQ FHHKWAILSD 370 380 390 400 410 420 PDDISAGLKG YVKCDVAVVG KGDNIKTPHK ANETDEDDIE GNLLLPEGVP PERQWARFYV 430 440 450 460 470 480 KIYRAEGLPR MNTSLMANVK KAFIGENKDL VDPYVQVFFA GQKGKTSVQK SSYEPLWNEQ 490 500 510 520 530 540 VVFTDLFPPL CKRMKVQIRD SDKVNDVAIG THFIDLRKIS NDGDKGFLPT LGPAWVNMYG 550 560 570 580 590 600 STRNYTLLDE HQDLNEGLGE GVSFRARLML GLAVEILDTS NPELTSSTEV QVEQATPVSE 610 620 630 640 650 660 SCTGRMEEFF LFGAFLEASM IDRKNGDKPI TFEVTIGNYG NEVDGMSRPL RPRPRKEPGD 670 680 690 700 710 720 EEEVDLIQNS SDDEGDEAGD LASVSSTPPM RPQITDRNYF HLPYLERKPC IYIKSWWPDQ 730 740 750 760 770 780 RRRLYNANIM DHIADKLEEG LNDVQEMIKT EKSYPERRLR GVLEELSCGC HRFLSLSDKD 790 800 810 820 830 840 QGRSSRTRLD RERLKSCMRE LESMGQQAKS LRAQVKRHTV RDKLRLCQNF LQKLRFLADE 850 860 870 880 890 900 PQHSIPDVFI WMMSNNKRIA YARVPSKDLL FSIVEEELGK DCAKVKTLFL KLPGKRGFGS 910 920 930 940 950 960 AGWTVQAKLE LYLWLGLSKQ RKDFLCGLPC GFEEVKAAQG LGLHSFPPIS LVYTKKQAFQ 970 980 990 1000 1010 1020 LRAHMYQARS LFAADSSGLS DPFARVFFIN QSQCTEVLNE TLCPTWDQML VFDNLELYGE 1030 1040 1050 1060 1070 1080 AHELRDDPPI IVIEIYDQDS MGKADFMGRT FAKPLVKMAD EAYCPPRFPP QLEYYQIYRG 1090 1100 1110 1120 1130 1140 SATAGDLLAA FELLQIGPSG KADLPPINGP VDMDRGPIMP VPVGIRPVLS KYRVEVLFWG 1150 1160 1170 1180 1190 1200 LRDLKRVNLA QVDRPRVDIE CAGKGVQSSL IHNYKKNPNF NTLVKWFEVD LPENELLHPP 1210 1220 1230 1240 1250 1260 LNIRVVDCRA FGRYTLVGSH AVSSLRRFIY RPPDRSAPNW NTTGEVVVSM EPEEPVKKLE 1270 1280 1290 1300 1310 1320 TMVKLDATSD AVVKVDVAED EKERKKKKKK GPSEEPEEEE PDESMLDWWS KYFASIDTMK 1330 1340 1350 1360 1370 1380 EQLRQHETSG TDLEEKEEME SAEGLKGPMK SKEKSRAAKE EKKKKNQSPG PGQGSEAPEK 1390 1400 1410 1420 1430 1440 KKAKIDELKV YPKELESEFD SFEDWLHTFN LLRGKTGDDE DGSTEEERIV GRFKGSLCVY 1450 1460 1470 1480 1490 1500 KVPLPEDVSR EAGYDPTYGM FQGIPSNDPI NVLVRIYVVR ATDLHPADIN GKADPYIAIK 1510 1520 1530 1540 1550 1560 LGKTDIRDKE NYISKQLNPV FGKSFDIEAS FPMESMLTVA VYDWDLVGTD DLIGETKIDL 1570 1580 1590 1600 1610 1620 ENRFYSKHRA TCGIAQTYSI HGYNIWRDPM KPSQILTRLC KEGKVDGPHF GPHGRVRVAN 1630 1640 1650 1660 1670 1680 RVFTGPSEIE DENGQRKPTD EHVALSALRH WEDIPRVGCR LVPEHVETRP LLNPDKPGIE 1690 1700 1710 1720 1730 1740 QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIVWN TDEVVLEDDD FFTGEKSSDI 1750 1760 1770 1780 1790 1800 FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL AAEEKIVMSK KESMFSWDET 1810 1820 1830 1840 1850 1860 EYKIPARLTL QIWDADHFSA DDFLGAIELD LNRFPRGAKT AKQCTMEMAT GEVDVPLVSI 1870 1880 1890 1900 1910 1920 FKQKRVKGWW PLLARNENDE FELTGKVEAE LHLLTAEEAE KNPVGLARNE PDPLEKPNRP 1930 1940 1950 1960 1970 DTSFIWFLNP LKSARYFLWH TYRWLLLKFL LLFLLLLLFA LFLYSLPGYL AKKILGA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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.
[9]	"The phagosomal proteome in interferon-gamma-activated macrophages." Trost M., English L., Lemieux S., Courcelles M., Desjardins M., Thibault P. Immunity 30:143-154(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-11, MASS SPECTROMETRY. Tissue: Macrophage.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00113302. IPI00223385. IPI00915509.
RefSeq	NP_001093865.1. NM_001100395.1. NP_114081.2. NM_031875.2.
UniGene	Mm.244502.
3D structure databases
ProteinModelPortal	Q9ESF1.
SMR	Q9ESF1. Positions 1-124, 1494-1574.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9ESF1. 1 interaction.
STRING	10090.ENSMUSP00000073803.
PTM databases
PhosphoSite	Q9ESF1.
Proteomic databases
PaxDb	Q9ESF1.
PRIDE	Q9ESF1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000114747; ENSMUSP00000110395; ENSMUSG00000062372.
GeneID	83762.
KEGG	mmu:83762.
UCSC	uc008wvl.1. mouse. uc012dud.1. mouse.
Organism-specific databases
CTD	9381.
MGI	MGI:1891247. Otof.
Phylogenomic databases
eggNOG	COG5038.
GeneTree	ENSGT00550000074414.
HOGENOM	HOG000006770.
HOVERGEN	HBG108221.
InParanoid	Q9ESF1.
Gene expression databases
ArrayExpress	Q9ESF1.
Bgee	Q9ESF1.
CleanEx	MM_OTOF.
Genevestigator	Q9ESF1.
Family and domain databases
InterPro	IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR020477. C2_dom. IPR018029. C2_membr_targeting. IPR012968. FerIin-domain. IPR012561. Ferlin_B-domain. [Graphical view]
Pfam	PF00168. C2. 7 hits. PF08150. FerB. 1 hit. PF08151. FerI. 1 hit. [Graphical view]
PRINTS	PR00360. C2DOMAIN.
SMART	SM00239. C2. 6 hits. [Graphical view]
SUPFAM	SSF49562. C2_CaLB. 7 hits.
PROSITE	PS50004. C2. 4 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	350750.
SOURCE	Search...

Entry information

Entry name

OTOF_MOUSE

Accession

Primary (citable) accession number: Q9ESF1
Secondary accession number(s): A3KLM3 , B2RWU0, Q8CCE7, Q9ESF2

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	March 1, 2001
Last modified:	May 29, 2013
This is version 91 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program