Q9HC10 (OTOF_HUMAN) 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

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

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 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 vesicle › secretory vesicle › synaptic 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.

Ontologies

Keywords
Biological process	Hearing
Cellular component	Cell junction Cell membrane Cytoplasmic vesicle Endoplasmic reticulum Membrane Synapse
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Disease mutation Neuropathy Non-syndromic deafness
Domain	Coiled coil Repeat Signal-anchor Transmembrane Transmembrane helix
Ligand	Calcium
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular membrane fusion Traceable author statement Ref.1. Source: ProtInc sensory perception of sound Traceable author statement Ref.1. Source: ProtInc synaptic vesicle exocytosis Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	basolateral plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell cell junction Inferred from electronic annotation. Source: UniProtKB-KW cytosol Traceable author statement Ref.1. Source: ProtInc endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Traceable author statement Ref.1. Source: ProtInc synaptic vesicle membrane Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	calcium ion binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1997	1997	Otoferlin		PRO_0000057881
Regions
	Topological domain	1 – 1963	1963	Cytoplasmic Potential
	Transmembrane	1964 – 1984	21	Helical; Potential
	Topological domain	1985 – 1997	13	Extracellular Potential
	Domain	241 – 338	98	C2 1
	Domain	404 – 514	111	C2 2
	Domain	947 – 1052	106	C2 3
	Domain	1479 – 1577	99	C2 4
	Coiled coil	792 – 821	30	Potential
	Compositional bias	1303 – 1310	8	Poly-Lys
	Compositional bias	1314 – 1320	7	Poly-Glu
	Compositional bias	1965 – 1983	19	Poly-Leu
Amino acid modifications
	Modified residue	11	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 747	747	Missing in isoform 2 and isoform 4.		VSP_001507
	Alternative sequence	1 – 690	690	Missing in isoform 3.		VSP_001509
	Alternative sequence	691 – 738	48	MRPQV…IADKL → MMTDTQDGPSESSQIMRSLT PLINREEAFGEAGEAGLWPS ITHTPDSQ in isoform 3.		VSP_001510
	Alternative sequence	1245 – 1264	20	Missing in isoform 2 and isoform 4.		VSP_001508
	Alternative sequence	1943 – 1997	55	SFIWF…KILGA → AFVWFLNPLKSIKYLICTRY KWLIIKIVLALLGLLMLGLF LYSLPGYMVKKLLGA in isoform 2 and isoform 5.		VSP_001511
	Natural variant	53	1	A → V. Ref.10 Corresponds to variant rs1879761 [ dbSNP | Ensembl ].		VAR_032226
	Natural variant	82	1	R → C. Ref.6 Ref.10 Corresponds to variant rs13031859 [ dbSNP | Ensembl ].		VAR_032227
	Natural variant	255	1	Q → H in AUNB1. Ref.12		VAR_046003
	Natural variant	490	1	P → Q in DFNB9. Ref.7 Ref.10		VAR_032228
	Natural variant	515	1	I → T in DFNB9 and AUNB1; temperature sensitive. Ref.7 Ref.10		VAR_032229
	Natural variant	575	1	V → M. Ref.10 Corresponds to variant rs55676840 [ dbSNP | Ensembl ].		VAR_032230
	Natural variant	773	1	R → S. Ref.6 Ref.10		VAR_032231
	Natural variant	794	1	R → H in DFNB9. Ref.10		VAR_032232
	Natural variant	818	1	R → W. Corresponds to variant rs2272070 [ dbSNP | Ensembl ].		VAR_028028
	Natural variant	822	1	R → W in DFNB9; uncertain pathogenicity. Ref.9 Ref.10		VAR_032233
	Natural variant	964	1	A → E in AUNB1. Ref.12		VAR_046004
	Natural variant	1011	1	L → P in AUNB1 and DFNB9. Ref.8 Ref.10		VAR_032234
	Natural variant	1083	1	A → P. Ref.10		VAR_032235
	Natural variant	1138	1	L → P in AUNB1. Ref.12		VAR_046005
	Natural variant	1157	1	R → Q. Ref.10 Corresponds to variant rs56054534 [ dbSNP | Ensembl ].		VAR_032236
	Natural variant	1236	1	R → Q. Ref.12		VAR_046006
	Natural variant	1322	1	D → E. Ref.10		VAR_032237
	Natural variant	1323	1	E → K in a breast cancer sample; somatic mutation. Ref.11		VAR_035895
	Natural variant	1547	1	I → V in a breast cancer sample; somatic mutation. Ref.11		VAR_035896
	Natural variant	1625	1	V → M. Ref.10		VAR_032238
	Natural variant	1646	1	P → S. Ref.10 Corresponds to variant rs17005371 [ dbSNP | Ensembl ].		VAR_028029
	Natural variant	1680	1	R → H. Corresponds to variant rs11893228 [ dbSNP | Ensembl ].		VAR_028030
	Natural variant	1688	1	T → K. Ref.12		VAR_046007
	Natural variant	1795	1	F → C in AUNB1. Ref.12		VAR_046008
	Natural variant	1825	1	P → A in DFNB9. Ref.10 Corresponds to variant rs28937591 [ dbSNP | Ensembl ].		VAR_032239
	Natural variant	1886	1	V → A. Corresponds to variant rs45442103 [ dbSNP | Ensembl ].		VAR_049057
	Natural variant	1888	1	G → D. Ref.10		VAR_032240
	Natural variant	1939	1	R → Q in AUNB1. Ref.10		VAR_032241
	Natural variant	1987	1	P → R in AUNB1. Ref.10		VAR_032242
Experimental info
	Sequence conflict	1088	1	L → P in AAD26117. Ref.1
	Sequence conflict	1088	1	L → P in AAG12992. Ref.2
	Sequence conflict	1088	1	L → P in AAG17468. Ref.2
	Sequence conflict	1787	1	G → S in BAG58982. Ref.5
Isoform 3:
	Sequence conflict	21	1	P → L in AAG12992. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Long) [UniParc]. Last modified October 17, 2006. Version 3. Checksum: 24DE196371FB7385	FASTA	1,997	226,753
	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
	Isoform 2 (Short-1) [UniParc]. Checksum: 4DE2F70848ED18E3	FASTA	1,230	140,295
	10 20 30 40 50 60 MIKTEKSYPE RRLRGVLEEL SCGCCRFLSL ADKDQGHSSR TRLDRERLKS CMRELENMGQ 70 80 90 100 110 120 QARMLRAQVK RHTVRDKLRL CQNFLQKLRF LADEPQHSIP DIFIWMMSNN KRVAYARVPS 130 140 150 160 170 180 KDLLFSIVEE ETGKDCAKVK TLFLKLPGKR GFGSAGWTVQ AKVELYLWLG LSKQRKEFLC 190 200 210 220 230 240 GLPCGFQEVK AAQGLGLHAF PPVSLVYTKK QAFQLRAHMY QARSLFAADS SGLSDPFARV 250 260 270 280 290 300 FFINQSQCTE VLNETLCPTW DQMLVFDNLE LYGEAHELRD DPPIIVIEIY DQDSMGKADF 310 320 330 340 350 360 MGRTFAKPLV KMADEAYCPP RFPPQLEYYQ IYRGNATAGD LLAAFELLQI GPAGKADLPP 370 380 390 400 410 420 INGPVDVDRG PIMPVPMGIR PVLSKYRVEV LFWGLRDLKR VNLAQVDRPR VDIECAGKGV 430 440 450 460 470 480 QSSLIHNYKK NPNFNTLVKW FEVDLPENEL LHPPLNIRVV DCRAFGRYTL VGSHAVSSLR 490 500 510 520 530 540 RFIYRPPDRS APSWNTTGEV VVTMEPEVPI KKLETMVKLD ATSEAVVKVD VAEEEKEKKK 550 560 570 580 590 600 KKKGTAEEPE EEEPDESMLD WWSKYFASID TMKEQLRQQE PSGIDLEEKE EVDNTEGLKG 610 620 630 640 650 660 SMKGKEKARA AKEEKKKKTQ SSGSGQGSEA PEKKKPKIDE LKVYPKELES EFDNFEDWLH 670 680 690 700 710 720 TFNLLRGKTG DDEDGSTEEE RIVGRFKGSL CVYKVPLPED VSREAGYDST YGMFQGIPSN 730 740 750 760 770 780 DPINVLVRVY VVRATDLHPA DINGKADPYI AIRLGKTDIR DKENYISKQL NPVFGKSFDI 790 800 810 820 830 840 EASFPMESML TVAVYDWDLV GTDDLIGETK IDLENRFYSK HRATCGIAQT YSTHGYNIWR 850 860 870 880 890 900 DPMKPSQILT RLCKDGKVDG PHFGPPGRVK VANRVFTGPS EIEDENGQRK PTDEHVALLA 910 920 930 940 950 960 LRHWEDIPRA GCRLVPEHVE TRPLLNPDKP GIEQGRLELW VDMFPMDMPA PGTPLDISPR 970 980 990 1000 1010 1020 KPKKYELRVI IWNTDEVVLE DDDFFTGEKS SDIFVRGWLK GQQEDKQDTD VHYHSLTGEG 1030 1040 1050 1060 1070 1080 NFNWRYLFPF DYLAAEEKIV ISKKESMFSW DETEYKIPAR LTLQIWDADH FSADDFLGAI 1090 1100 1110 1120 1130 1140 ELDLNRFPRG AKTAKQCTME MATGEVDVPL VSIFKQKRVK GWWPLLARNE NDEFELTGKV 1150 1160 1170 1180 1190 1200 EAELHLLTAE EAEKNPVGLA RNEPDPLEKP NRPDTAFVWF LNPLKSIKYL ICTRYKWLII 1210 1220 1230 KIVLALLGLL MLGLFLYSLP GYMVKKLLGA
	Isoform 3 (Short-2) [UniParc]. Checksum: CDB151AA2CB43174	FASTA	1,307	148,927
	10 20 30 40 50 60 MMTDTQDGPS ESSQIMRSLT PLINREEAFG EAGEAGLWPS ITHTPDSQEE GLNDIQEMIK 70 80 90 100 110 120 TEKSYPERRL RGVLEELSCG CCRFLSLADK DQGHSSRTRL DRERLKSCMR ELENMGQQAR 130 140 150 160 170 180 MLRAQVKRHT VRDKLRLCQN FLQKLRFLAD EPQHSIPDIF IWMMSNNKRV AYARVPSKDL 190 200 210 220 230 240 LFSIVEEETG KDCAKVKTLF LKLPGKRGFG SAGWTVQAKV ELYLWLGLSK QRKEFLCGLP 250 260 270 280 290 300 CGFQEVKAAQ GLGLHAFPPV SLVYTKKQAF QLRAHMYQAR SLFAADSSGL SDPFARVFFI 310 320 330 340 350 360 NQSQCTEVLN ETLCPTWDQM LVFDNLELYG EAHELRDDPP IIVIEIYDQD SMGKADFMGR 370 380 390 400 410 420 TFAKPLVKMA DEAYCPPRFP PQLEYYQIYR GNATAGDLLA AFELLQIGPA GKADLPPING 430 440 450 460 470 480 PVDVDRGPIM PVPMGIRPVL SKYRVEVLFW GLRDLKRVNL AQVDRPRVDI ECAGKGVQSS 490 500 510 520 530 540 LIHNYKKNPN FNTLVKWFEV DLPENELLHP PLNIRVVDCR AFGRYTLVGS HAVSSLRRFI 550 560 570 580 590 600 YRPPDRSAPS WNTTVRLLRR CRVLCNGGSS SHSTGEVVVT MEPEVPIKKL ETMVKLDATS 610 620 630 640 650 660 EAVVKVDVAE EEKEKKKKKK GTAEEPEEEE PDESMLDWWS KYFASIDTMK EQLRQQEPSG 670 680 690 700 710 720 IDLEEKEEVD NTEGLKGSMK GKEKARAAKE EKKKKTQSSG SGQGSEAPEK KKPKIDELKV 730 740 750 760 770 780 YPKELESEFD NFEDWLHTFN LLRGKTGDDE DGSTEEERIV GRFKGSLCVY KVPLPEDVSR 790 800 810 820 830 840 EAGYDSTYGM FQGIPSNDPI NVLVRVYVVR ATDLHPADIN GKADPYIAIR LGKTDIRDKE 850 860 870 880 890 900 NYISKQLNPV FGKSFDIEAS FPMESMLTVA VYDWDLVGTD DLIGETKIDL ENRFYSKHRA 910 920 930 940 950 960 TCGIAQTYST HGYNIWRDPM KPSQILTRLC KDGKVDGPHF GPPGRVKVAN RVFTGPSEIE 970 980 990 1000 1010 1020 DENGQRKPTD EHVALLALRH WEDIPRAGCR LVPEHVETRP LLNPDKPGIE QGRLELWVDM 1030 1040 1050 1060 1070 1080 FPMDMPAPGT PLDISPRKPK KYELRVIIWN TDEVVLEDDD FFTGEKSSDI FVRGWLKGQQ 1090 1100 1110 1120 1130 1140 EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL AAEEKIVISK KESMFSWDET EYKIPARLTL 1150 1160 1170 1180 1190 1200 QIWDADHFSA DDFLGAIELD LNRFPRGAKT AKQCTMEMAT GEVDVPLVSI FKQKRVKGWW 1210 1220 1230 1240 1250 1260 PLLARNENDE FELTGKVEAE LHLLTAEEAE KNPVGLARNE PDPLEKPNRP DTSFIWFLNP 1270 1280 1290 1300 LKSARYFLWH TYRWLLLKLL LLLLLLLLLA LFLYSVPGYL VKKILGA
	Isoform 4 (Short-3) [UniParc]. Checksum: DE8475F1756298EE	FASTA	1,230	140,513
	10 20 30 40 50 60 MIKTEKSYPE RRLRGVLEEL SCGCCRFLSL ADKDQGHSSR TRLDRERLKS CMRELENMGQ 70 80 90 100 110 120 QARMLRAQVK RHTVRDKLRL CQNFLQKLRF LADEPQHSIP DIFIWMMSNN KRVAYARVPS 130 140 150 160 170 180 KDLLFSIVEE ETGKDCAKVK TLFLKLPGKR GFGSAGWTVQ AKVELYLWLG LSKQRKEFLC 190 200 210 220 230 240 GLPCGFQEVK AAQGLGLHAF PPVSLVYTKK QAFQLRAHMY QARSLFAADS SGLSDPFARV 250 260 270 280 290 300 FFINQSQCTE VLNETLCPTW DQMLVFDNLE LYGEAHELRD DPPIIVIEIY DQDSMGKADF 310 320 330 340 350 360 MGRTFAKPLV KMADEAYCPP RFPPQLEYYQ IYRGNATAGD LLAAFELLQI GPAGKADLPP 370 380 390 400 410 420 INGPVDVDRG PIMPVPMGIR PVLSKYRVEV LFWGLRDLKR VNLAQVDRPR VDIECAGKGV 430 440 450 460 470 480 QSSLIHNYKK NPNFNTLVKW FEVDLPENEL LHPPLNIRVV DCRAFGRYTL VGSHAVSSLR 490 500 510 520 530 540 RFIYRPPDRS APSWNTTGEV VVTMEPEVPI KKLETMVKLD ATSEAVVKVD VAEEEKEKKK 550 560 570 580 590 600 KKKGTAEEPE EEEPDESMLD WWSKYFASID TMKEQLRQQE PSGIDLEEKE EVDNTEGLKG 610 620 630 640 650 660 SMKGKEKARA AKEEKKKKTQ SSGSGQGSEA PEKKKPKIDE LKVYPKELES EFDNFEDWLH 670 680 690 700 710 720 TFNLLRGKTG DDEDGSTEEE RIVGRFKGSL CVYKVPLPED VSREAGYDST YGMFQGIPSN 730 740 750 760 770 780 DPINVLVRVY VVRATDLHPA DINGKADPYI AIRLGKTDIR DKENYISKQL NPVFGKSFDI 790 800 810 820 830 840 EASFPMESML TVAVYDWDLV GTDDLIGETK IDLENRFYSK HRATCGIAQT YSTHGYNIWR 850 860 870 880 890 900 DPMKPSQILT RLCKDGKVDG PHFGPPGRVK VANRVFTGPS EIEDENGQRK PTDEHVALLA 910 920 930 940 950 960 LRHWEDIPRA GCRLVPEHVE TRPLLNPDKP GIEQGRLELW VDMFPMDMPA PGTPLDISPR 970 980 990 1000 1010 1020 KPKKYELRVI IWNTDEVVLE DDDFFTGEKS SDIFVRGWLK GQQEDKQDTD VHYHSLTGEG 1030 1040 1050 1060 1070 1080 NFNWRYLFPF DYLAAEEKIV ISKKESMFSW DETEYKIPAR LTLQIWDADH FSADDFLGAI 1090 1100 1110 1120 1130 1140 ELDLNRFPRG AKTAKQCTME MATGEVDVPL VSIFKQKRVK GWWPLLARNE NDEFELTGKV 1150 1160 1170 1180 1190 1200 EAELHLLTAE EAEKNPVGLA RNEPDPLEKP NRPDTSFIWF LNPLKSARYF LWHTYRWLLL 1210 1220 1230 KLLLLLLLLL LLALFLYSVP GYLVKKILGA
	Isoform 5 [UniParc]. Checksum: B7B89B9A4C74F388	FASTA	1,997	226,535
	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 DTAFVWFLNP LKSIKYLICT RYKWLIIKIV LALLGLLMLG 1990 LFLYSLPGYM VKKLLGA

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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. , 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

GeneReviews

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.
IPI	IPI00216362. IPI00216364. IPI00216366. IPI00375559. IPI00893506.
RefSeq	NP_004793.2. NM_004802.3. NP_919224.1. NM_194248.2. NP_919303.1. NM_194322.2. NP_919304.1. NM_194323.2.
UniGene	Hs.91608.
3D structure databases
ProteinModelPortal	Q9HC10.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000272371.
PTM databases
PhosphoSite	Q9HC10.
Polymorphism databases
DMDM	116242695.
Proteomic databases
PaxDb	Q9HC10.
PRIDE	Q9HC10.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000272371; ENSP00000272371; ENSG00000115155. ENST00000338581; ENSP00000345137; ENSG00000115155. ENST00000339598; ENSP00000344521; ENSG00000115155. ENST00000402415; ENSP00000383906; ENSG00000115155. ENST00000403946; ENSP00000385255; ENSG00000115155.
GeneID	9381.
KEGG	hsa:9381.
UCSC	uc002rhh.3. human. uc002rhi.3. human. uc002rhj.3. human. uc002rhk.3. human.
Organism-specific databases
CTD	9381.
GeneCards	GC02M026591.
HGNC	HGNC:8515. OTOF.
HPA	HPA007502. HPA012410.
MIM	601071. phenotype. 603681. gene.
neXtProt	NX_Q9HC10.
Orphanet	90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKB	PA32841.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5038.
HOVERGEN	HBG108221.
OMA	QCTMEMA.
OrthoDB	EOG408N74.
PhylomeDB	Q9HC10.
Gene expression databases
Bgee	Q9HC10.
CleanEx	HS_OTOF.
Genevestigator	Q9HC10.
GermOnline	ENSG00000115155. Homo sapiens.
Family and domain databases
InterPro	IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. 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]
SMART	SM00239. C2. 6 hits. [Graphical view]
SUPFAM	SSF49562. C2_CaLB. 7 hits.
PROSITE	PS50004. C2. 4 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9381.
NextBio	35152.
SOURCE	Search...

Entry information

Entry name

OTOF_HUMAN

Accession

Primary (citable) accession number: Q9HC10
Secondary accession number(s): B4DJX0 , B5MCC1, B9A0H6, Q53R90, Q9HC08, Q9HC09, Q9Y650

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	October 17, 2006
Last modified:	May 1, 2013
This is version 118 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.