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Q9HC10 (OTOF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Otoferlin
Alternative name(s):
Fer-1-like protein 2
Gene names
Name:OTOF
Synonyms:FER1L2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1997 AA.
Sequence statusComplete.
Protein existenceEvidence 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 By similarity.

Cofactor

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

Subunit structure

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

Subcellular location

Cytoplasmic vesiclesecretory vesiclesynaptic vesicle membrane; Single-pass type II membrane protein By similarity. Basolateral cell membrane; Single-pass type II membrane protein By similarity. Endoplasmic reticulum membrane; Single-pass type II membrane protein By similarity. Cell membrane; 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.

Tissue specificity

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.

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.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.7 Ref.8 Ref.9 Ref.10

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.12

Sequence similarities

Belongs to the ferlin family.

Contains 4 C2 domains.

Sequence caution

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

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9HC10-1)

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.
Isoform 2 (identifier: Q9HC10-2)

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
Isoform 3 (identifier: Q9HC10-3)

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
Isoform 4 (identifier: Q9HC10-4)

Also known as: Short-3;

The sequence of this isoform differs from the canonical sequence as follows:
     1-747: Missing.
     1245-1264: Missing.
Isoform 5 (identifier: Q9HC10-5)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 19971997Otoferlin
PRO_0000057881

Regions

Topological domain1 – 19631963Cytoplasmic Potential
Transmembrane1964 – 198421Helical; Potential
Topological domain1985 – 199713Extracellular Potential
Domain241 – 33898C2 1
Domain404 – 514111C2 2
Domain947 – 1052106C2 3
Domain1479 – 157799C2 4
Coiled coil792 – 82130 Potential
Compositional bias1303 – 13108Poly-Lys
Compositional bias1314 – 13207Poly-Glu
Compositional bias1965 – 198319Poly-Leu

Natural variations

Alternative sequence1 – 747747Missing in isoform 2 and isoform 4.
VSP_001507
Alternative sequence1 – 690690Missing in isoform 3.
VSP_001509
Alternative sequence691 – 73848MRPQV…IADKL → MMTDTQDGPSESSQIMRSLT PLINREEAFGEAGEAGLWPS ITHTPDSQ in isoform 3.
VSP_001510
Alternative sequence1245 – 126420Missing in isoform 2 and isoform 4.
VSP_001508
Alternative sequence1943 – 199755SFIWF…KILGA → AFVWFLNPLKSIKYLICTRY KWLIIKIVLALLGLLMLGLF LYSLPGYMVKKLLGA in isoform 2 and isoform 5.
VSP_001511
Natural variant531A → V. Ref.10
Corresponds to variant rs1879761 [ dbSNP | Ensembl ].
VAR_032226
Natural variant821R → C. Ref.6 Ref.10
Corresponds to variant rs13031859 [ dbSNP | Ensembl ].
VAR_032227
Natural variant2551Q → H in AUNB1. Ref.12
VAR_046003
Natural variant4901P → Q in DFNB9. Ref.7 Ref.10
VAR_032228
Natural variant5151I → T in DFNB9 and AUNB1; temperature sensitive. Ref.7 Ref.10
VAR_032229
Natural variant5751V → M. Ref.10
Corresponds to variant rs55676840 [ dbSNP | Ensembl ].
VAR_032230
Natural variant7731R → S. Ref.6 Ref.10
VAR_032231
Natural variant7941R → H in DFNB9. Ref.10
Corresponds to variant rs80356592 [ dbSNP | Ensembl ].
VAR_032232
Natural variant8181R → W.
Corresponds to variant rs2272070 [ dbSNP | Ensembl ].
VAR_028028
Natural variant8221R → W in DFNB9; unknown pathological significance. Ref.9 Ref.10
Corresponds to variant rs80356570 [ dbSNP | Ensembl ].
VAR_032233
Natural variant9641A → E in AUNB1. Ref.12
VAR_046004
Natural variant10111L → P in AUNB1 and DFNB9. Ref.8 Ref.10
VAR_032234
Natural variant10831A → P. Ref.10
Corresponds to variant rs80356574 [ dbSNP | Ensembl ].
VAR_032235
Natural variant11381L → P in AUNB1. Ref.12
VAR_046005
Natural variant11571R → Q. Ref.10
Corresponds to variant rs56054534 [ dbSNP | Ensembl ].
VAR_032236
Natural variant12361R → Q. Ref.12
VAR_046006
Natural variant13221D → E. Ref.10
Corresponds to variant rs80356576 [ dbSNP | Ensembl ].
VAR_032237
Natural variant13231E → K in a breast cancer sample; somatic mutation. Ref.11
VAR_035895
Natural variant15471I → V in a breast cancer sample; somatic mutation. Ref.11
VAR_035896
Natural variant16251V → M. Ref.10
VAR_032238
Natural variant16461P → S. Ref.10
Corresponds to variant rs17005371 [ dbSNP | Ensembl ].
VAR_028029
Natural variant16801R → H.
Corresponds to variant rs11893228 [ dbSNP | Ensembl ].
VAR_028030
Natural variant16881T → K. Ref.12
VAR_046007
Natural variant17951F → C in AUNB1. Ref.12
VAR_046008
Natural variant18251P → A in DFNB9. Ref.10
Corresponds to variant rs28937591 [ dbSNP | Ensembl ].
VAR_032239
Natural variant18861V → A.
Corresponds to variant rs45442103 [ dbSNP | Ensembl ].
VAR_049057
Natural variant18881G → D. Ref.10
VAR_032240
Natural variant19391R → Q in AUNB1. Ref.10
VAR_032241
Natural variant19871P → R in AUNB1. Ref.10
VAR_032242

Experimental info

Sequence conflict10881L → P in AAD26117. Ref.1
Sequence conflict10881L → P in AAG12992. Ref.2
Sequence conflict10881L → P in AAG17468. Ref.2
Sequence conflict17871G → S in BAG58982. Ref.5
Isoform 3:
Sequence conflict211P → L in AAG12992. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified October 17, 2006. Version 3.
Checksum: 24DE196371FB7385

FASTA1,997226,753
        10         20         30         40         50         60 
MALLIHLKTV SELRGRGDRI AKVTFRGQSF YSRVLENCED VADFDETFRW PVASSIDRNE 

        70         80         90        100        110        120 
MLEIQVFNYS KVFSNKLIGT FRMVLQKVVE ESHVEVTDTL IDDNNAIIKT SLCVEVRYQA 

       130        140        150        160        170        180 
TDGTVGSWDD GDFLGDESLQ EEEKDSQETD GLLPGSRPSS RPPGEKSFRR AGRSVFSAMK 

       190        200        210        220        230        240 
LGKNRSHKEE PQRPDEPAVL EMEDLDHLAI RLGDGLDPDS VSLASVTALT TNVSNKRSKP 

       250        260        270        280        290        300 
DIKMEPSAGR PMDYQVSITV IEARQLVGLN MDPVVCVEVG DDKKYTSMKE STNCPYYNEY 

       310        320        330        340        350        360 
FVFDFHVSPD VMFDKIIKIS VIHSKNLLRS GTLVGSFKMD VGTVYSQPEH QFHHKWAILS 

       370        380        390        400        410        420 
DPDDISSGLK GYVKCDVAVV GKGDNIKTPH KANETDEDDI EGNLLLPEGV PPERQWARFY 

       430        440        450        460        470        480 
VKIYRAEGLP RMNTSLMANV KKAFIGENKD LVDPYVQVFF AGQKGKTSVQ KSSYEPLWNE 

       490        500        510        520        530        540 
QVVFTDLFPP LCKRMKVQIR DSDKVNDVAI GTHFIDLRKI SNDGDKGFLP TLGPAWVNMY 

       550        560        570        580        590        600 
GSTRNYTLLD EHQDLNEGLG EGVSFRARLL LGLAVEIVDT SNPELTSSTE VQVEQATPIS 

       610        620        630        640        650        660 
ESCAGKMEEF FLFGAFLEAS MIDRRNGDKP ITFEVTIGNY GNEVDGLSRP QRPRPRKEPG 

       670        680        690        700        710        720 
DEEEVDLIQN ASDDEAGDAG DLASVSSTPP MRPQVTDRNY FHLPYLERKP CIYIKSWWPD 

       730        740        750        760        770        780 
QRRRLYNANI MDHIADKLEE GLNDIQEMIK TEKSYPERRL RGVLEELSCG CCRFLSLADK 

       790        800        810        820        830        840 
DQGHSSRTRL DRERLKSCMR ELENMGQQAR MLRAQVKRHT VRDKLRLCQN FLQKLRFLAD 

       850        860        870        880        890        900 
EPQHSIPDIF IWMMSNNKRV AYARVPSKDL LFSIVEEETG KDCAKVKTLF LKLPGKRGFG 

       910        920        930        940        950        960 
SAGWTVQAKV ELYLWLGLSK QRKEFLCGLP CGFQEVKAAQ GLGLHAFPPV SLVYTKKQAF 

       970        980        990       1000       1010       1020 
QLRAHMYQAR SLFAADSSGL SDPFARVFFI NQSQCTEVLN ETLCPTWDQM LVFDNLELYG 

      1030       1040       1050       1060       1070       1080 
EAHELRDDPP IIVIEIYDQD SMGKADFMGR TFAKPLVKMA DEAYCPPRFP PQLEYYQIYR 

      1090       1100       1110       1120       1130       1140 
GNATAGDLLA AFELLQIGPA GKADLPPING PVDVDRGPIM PVPMGIRPVL SKYRVEVLFW 

      1150       1160       1170       1180       1190       1200 
GLRDLKRVNL AQVDRPRVDI ECAGKGVQSS LIHNYKKNPN FNTLVKWFEV DLPENELLHP 

      1210       1220       1230       1240       1250       1260 
PLNIRVVDCR AFGRYTLVGS HAVSSLRRFI YRPPDRSAPS WNTTVRLLRR CRVLCNGGSS 

      1270       1280       1290       1300       1310       1320 
SHSTGEVVVT MEPEVPIKKL ETMVKLDATS EAVVKVDVAE EEKEKKKKKK GTAEEPEEEE 

      1330       1340       1350       1360       1370       1380 
PDESMLDWWS KYFASIDTMK EQLRQQEPSG IDLEEKEEVD NTEGLKGSMK GKEKARAAKE 

      1390       1400       1410       1420       1430       1440 
EKKKKTQSSG SGQGSEAPEK KKPKIDELKV YPKELESEFD NFEDWLHTFN LLRGKTGDDE 

      1450       1460       1470       1480       1490       1500 
DGSTEEERIV GRFKGSLCVY KVPLPEDVSR EAGYDSTYGM FQGIPSNDPI NVLVRVYVVR 

      1510       1520       1530       1540       1550       1560 
ATDLHPADIN GKADPYIAIR LGKTDIRDKE NYISKQLNPV FGKSFDIEAS FPMESMLTVA 

      1570       1580       1590       1600       1610       1620 
VYDWDLVGTD DLIGETKIDL ENRFYSKHRA TCGIAQTYST HGYNIWRDPM KPSQILTRLC 

      1630       1640       1650       1660       1670       1680 
KDGKVDGPHF GPPGRVKVAN RVFTGPSEIE DENGQRKPTD EHVALLALRH WEDIPRAGCR 

      1690       1700       1710       1720       1730       1740 
LVPEHVETRP LLNPDKPGIE QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIIWN 

      1750       1760       1770       1780       1790       1800 
TDEVVLEDDD FFTGEKSSDI FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL 

      1810       1820       1830       1840       1850       1860 
AAEEKIVISK 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 TYRWLLLKLL LLLLLLLLLA 

      1990 
LFLYSVPGYL VKKILGA 

« Hide

Isoform 2 (Short-1) [UniParc].

Checksum: 4DE2F70848ED18E3
Show »

FASTA1,230140,295
Isoform 3 (Short-2) [UniParc].

Checksum: CDB151AA2CB43174
Show »

FASTA1,307148,927
Isoform 4 (Short-3) [UniParc].

Checksum: DE8475F1756298EE
Show »

FASTA1,230140,513
Isoform 5 [UniParc].

Checksum: B7B89B9A4C74F388
Show »

FASTA1,997226,535

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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. expand/collapse author list , 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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] LYS-1323 AND VAL-1547.
[12]"A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy."
Rodriguez-Ballesteros M., Reynoso R., Olarte M., Villamar M., Morera C., Santarelli R., Arslan E., Meda C., Curet C., Voelter C., Sainz-Quevedo M., Castorina P., Ambrosetti U., Berrettini S., Frei K., Tedin S., Smith J., Cruz Tapia M. expand/collapse author list , Cavalle L., Gelvez N., Primignani P., Gomez-Rosas E., Martin M., Moreno-Pelayo M.A., Tamayo M., Moreno-Barral J., Moreno F., del Castillo I.
Hum. Mutat. 29:823-831(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AUNB1 HIS-255; GLU-964; PRO-1138 AND CYS-1795, VARIANTS GLN-1236 AND LYS-1688.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001274418.1. NM_001287489.1.
NP_004793.2. NM_004802.3.
NP_919224.1. NM_194248.2.
NP_919303.1. NM_194322.2.
NP_919304.1. NM_194323.2.
UniGeneHs.91608.

3D structure databases

ProteinModelPortalQ9HC10.
SMRQ9HC10. Positions 1-124, 252-520, 960-1224, 1494-1574, 1700-1858.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114782. 1 interaction.
STRING9606.ENSP00000272371.

PTM databases

PhosphoSiteQ9HC10.

Polymorphism databases

DMDM116242695.

Proteomic databases

PaxDbQ9HC10.
PRIDEQ9HC10.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000272371; ENSP00000272371; ENSG00000115155. [Q9HC10-1]
ENST00000338581; ENSP00000345137; ENSG00000115155. [Q9HC10-4]
ENST00000339598; ENSP00000344521; ENSG00000115155. [Q9HC10-2]
ENST00000402415; ENSP00000383906; ENSG00000115155. [Q9HC10-3]
ENST00000403946; ENSP00000385255; ENSG00000115155. [Q9HC10-5]
GeneID9381.
KEGGhsa:9381.
UCSCuc002rhh.3. human. [Q9HC10-4]
uc002rhi.3. human. [Q9HC10-3]
uc002rhj.3. human. [Q9HC10-2]
uc002rhk.3. human. [Q9HC10-1]

Organism-specific databases

CTD9381.
GeneCardsGC02M026591.
HGNCHGNC:8515. OTOF.
HPAHPA007502.
HPA012410.
MIM601071. phenotype.
603681. gene.
neXtProtNX_Q9HC10.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA32841.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5038.
HOVERGENHBG108221.
OMAHLAIRLG.
OrthoDBEOG7J9VNQ.
PhylomeDBQ9HC10.
TreeFamTF316871.

Gene expression databases

BgeeQ9HC10.
CleanExHS_OTOF.
GenevestigatorQ9HC10.

Family and domain databases

Gene3D2.60.40.150. 8 hits.
InterProIPR000008. C2_dom.
IPR012968. FerIin-domain.
IPR012561. Ferlin_B-domain.
[Graphical view]
PfamPF00168. C2. 7 hits.
PF08150. FerB. 1 hit.
PF08151. FerI. 1 hit.
[Graphical view]
SMARTSM00239. C2. 6 hits.
[Graphical view]
SUPFAMSSF49562. SSF49562. 8 hits.
PROSITEPS50004. C2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiOTOF.
GenomeRNAi9381.
NextBio35152.
PROQ9HC10.
SOURCESearch...

Entry information

Entry nameOTOF_HUMAN
AccessionPrimary (citable) accession number: Q9HC10
Secondary accession number(s): B4DJX0 expand/collapse secondary AC list , B5MCC1, B9A0H6, Q53R90, Q9HC08, Q9HC09, Q9Y650
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 126 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM