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Protein

Otoferlin

Gene

OTOF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 (By similarity).By similarity

Cofactori

Ca2+By similarityNote: Binds Ca2+. The ions are bound to the C2 1 domain.By similarity

GO - Molecular functioni

GO - Biological processi

  • membrane fusion Source: ProtInc
  • sensory perception of sound Source: ProtInc
  • synaptic vesicle exocytosis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Hearing

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000115155-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Otoferlin
Alternative name(s):
Fer-1-like protein 2
Gene namesi
Name:OTOF
Synonyms:FER1L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:8515. OTOF.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 1963CytoplasmicSequence analysisAdd BLAST1963
Transmembranei1964 – 1984HelicalSequence analysisAdd BLAST21
Topological domaini1985 – 1997ExtracellularSequence analysisAdd BLAST13

GO - Cellular componenti

  • basolateral plasma membrane Source: UniProtKB-SubCell
  • cell junction Source: UniProtKB-KW
  • cytosol Source: ProtInc
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: ProtInc
  • synaptic vesicle membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 9 (DFNB9)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601071
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032228490P → Q in DFNB9. 2 PublicationsCorresponds to variant rs80356585dbSNPEnsembl.1
Natural variantiVAR_032229515I → T in DFNB9 and AUNB1; temperature sensitive. 2 PublicationsCorresponds to variant rs80356586dbSNPEnsembl.1
Natural variantiVAR_032232794R → H in DFNB9. 1 PublicationCorresponds to variant rs80356592dbSNPEnsembl.1
Natural variantiVAR_032233822R → W in DFNB9; unknown pathological significance. 2 PublicationsCorresponds to variant rs80356570dbSNPEnsembl.1
Natural variantiVAR_0322341011L → P in AUNB1 and DFNB9. 2 PublicationsCorresponds to variant rs80356596dbSNPEnsembl.1
Natural variantiVAR_0322391825P → A in DFNB9. 1 PublicationCorresponds to variant rs28937591dbSNPEnsembl.1
Auditory neuropathy, autosomal recessive, 1 (AUNB1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601071
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046003255Q → H in AUNB1. 1 PublicationCorresponds to variant rs397515611dbSNPEnsembl.1
Natural variantiVAR_032229515I → T in DFNB9 and AUNB1; temperature sensitive. 2 PublicationsCorresponds to variant rs80356586dbSNPEnsembl.1
Natural variantiVAR_046004964A → E in AUNB1. 1 PublicationCorresponds to variant rs201329629dbSNPEnsembl.1
Natural variantiVAR_0322341011L → P in AUNB1 and DFNB9. 2 PublicationsCorresponds to variant rs80356596dbSNPEnsembl.1
Natural variantiVAR_0460051138L → P in AUNB1. 1 PublicationCorresponds to variant rs397515599dbSNPEnsembl.1
Natural variantiVAR_0460081795F → C in AUNB1. 1 PublicationCorresponds to variant rs397515606dbSNPEnsembl.1
Natural variantiVAR_0322411939R → Q in AUNB1. 1 PublicationCorresponds to variant rs80356605dbSNPEnsembl.1
Natural variantiVAR_0322421987P → R in AUNB1. 1 PublicationCorresponds to variant rs80356606dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation, Neuropathy, Non-syndromic deafness

Organism-specific databases

DisGeNETi9381.
MalaCardsiOTOF.
MIMi601071. phenotype.
OpenTargetsiENSG00000115155.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA32841.

Polymorphism and mutation databases

BioMutaiOTOF.
DMDMi116242695.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578811 – 1997OtoferlinAdd BLAST1997

Proteomic databases

MaxQBiQ9HC10.
PaxDbiQ9HC10.
PeptideAtlasiQ9HC10.
PRIDEiQ9HC10.

PTM databases

iPTMnetiQ9HC10.
PhosphoSitePlusiQ9HC10.

Expressioni

Tissue specificityi

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.

Gene expression databases

BgeeiENSG00000115155.
CleanExiHS_OTOF.
ExpressionAtlasiQ9HC10. baseline and differential.
GenevisibleiQ9HC10. HS.

Organism-specific databases

HPAiHPA007502.
HPA012410.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi114782. 2 interactors.
STRINGi9606.ENSP00000272371.

Structurei

3D structure databases

ProteinModelPortaliQ9HC10.
SMRiQ9HC10.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini241 – 338C2 1PROSITE-ProRule annotationAdd BLAST98
Domaini404 – 514C2 2PROSITE-ProRule annotationAdd BLAST111
Domaini947 – 1052C2 3PROSITE-ProRule annotationAdd BLAST106
Domaini1479 – 1577C2 4PROSITE-ProRule annotationAdd BLAST99

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili792 – 821Sequence analysisAdd BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1303 – 1310Poly-Lys8
Compositional biasi1314 – 1320Poly-Glu7
Compositional biasi1965 – 1983Poly-LeuAdd BLAST19

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

eggNOGiKOG1326. Eukaryota.
ENOG410XPT2. LUCA.
GeneTreeiENSGT00550000074414.
HOVERGENiHBG108221.
InParanoidiQ9HC10.
KOiK19949.
OMAiRKPTDEH.
OrthoDBiEOG091G0IG2.
PhylomeDBiQ9HC10.
TreeFamiTF316871.

Family and domain databases

Gene3Di2.60.40.150. 8 hits.
InterProiIPR000008. C2_dom.
IPR012968. FerIin_dom.
IPR012561. Ferlin_B-domain.
IPR032362. Ferlin_C.
IPR029996. Otoferlin.
[Graphical view]
PANTHERiPTHR12546:SF32. PTHR12546:SF32. 4 hits.
PfamiPF00168. C2. 6 hits.
PF08150. FerB. 1 hit.
PF08151. FerI. 1 hit.
PF16165. Ferlin_C. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 6 hits.
SM01201. FerB. 1 hit.
SM01202. FerI. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 8 hits.
PROSITEiPS50004. C2. 4 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9HC10-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MALLIHLKTV SELRGRGDRI AKVTFRGQSF YSRVLENCED VADFDETFRW
60 70 80 90 100
PVASSIDRNE MLEIQVFNYS KVFSNKLIGT FRMVLQKVVE ESHVEVTDTL
110 120 130 140 150
IDDNNAIIKT SLCVEVRYQA TDGTVGSWDD GDFLGDESLQ EEEKDSQETD
160 170 180 190 200
GLLPGSRPSS RPPGEKSFRR AGRSVFSAMK LGKNRSHKEE PQRPDEPAVL
210 220 230 240 250
EMEDLDHLAI RLGDGLDPDS VSLASVTALT TNVSNKRSKP DIKMEPSAGR
260 270 280 290 300
PMDYQVSITV IEARQLVGLN MDPVVCVEVG DDKKYTSMKE STNCPYYNEY
310 320 330 340 350
FVFDFHVSPD VMFDKIIKIS VIHSKNLLRS GTLVGSFKMD VGTVYSQPEH
360 370 380 390 400
QFHHKWAILS DPDDISSGLK GYVKCDVAVV GKGDNIKTPH KANETDEDDI
410 420 430 440 450
EGNLLLPEGV PPERQWARFY VKIYRAEGLP RMNTSLMANV KKAFIGENKD
460 470 480 490 500
LVDPYVQVFF AGQKGKTSVQ KSSYEPLWNE QVVFTDLFPP LCKRMKVQIR
510 520 530 540 550
DSDKVNDVAI GTHFIDLRKI SNDGDKGFLP TLGPAWVNMY GSTRNYTLLD
560 570 580 590 600
EHQDLNEGLG EGVSFRARLL LGLAVEIVDT SNPELTSSTE VQVEQATPIS
610 620 630 640 650
ESCAGKMEEF FLFGAFLEAS MIDRRNGDKP ITFEVTIGNY GNEVDGLSRP
660 670 680 690 700
QRPRPRKEPG DEEEVDLIQN ASDDEAGDAG DLASVSSTPP MRPQVTDRNY
710 720 730 740 750
FHLPYLERKP CIYIKSWWPD QRRRLYNANI MDHIADKLEE GLNDIQEMIK
760 770 780 790 800
TEKSYPERRL RGVLEELSCG CCRFLSLADK DQGHSSRTRL DRERLKSCMR
810 820 830 840 850
ELENMGQQAR MLRAQVKRHT VRDKLRLCQN FLQKLRFLAD EPQHSIPDIF
860 870 880 890 900
IWMMSNNKRV AYARVPSKDL LFSIVEEETG KDCAKVKTLF LKLPGKRGFG
910 920 930 940 950
SAGWTVQAKV ELYLWLGLSK QRKEFLCGLP CGFQEVKAAQ GLGLHAFPPV
960 970 980 990 1000
SLVYTKKQAF QLRAHMYQAR SLFAADSSGL SDPFARVFFI NQSQCTEVLN
1010 1020 1030 1040 1050
ETLCPTWDQM LVFDNLELYG EAHELRDDPP IIVIEIYDQD SMGKADFMGR
1060 1070 1080 1090 1100
TFAKPLVKMA DEAYCPPRFP PQLEYYQIYR GNATAGDLLA AFELLQIGPA
1110 1120 1130 1140 1150
GKADLPPING PVDVDRGPIM PVPMGIRPVL SKYRVEVLFW GLRDLKRVNL
1160 1170 1180 1190 1200
AQVDRPRVDI ECAGKGVQSS LIHNYKKNPN FNTLVKWFEV DLPENELLHP
1210 1220 1230 1240 1250
PLNIRVVDCR AFGRYTLVGS HAVSSLRRFI YRPPDRSAPS WNTTVRLLRR
1260 1270 1280 1290 1300
CRVLCNGGSS SHSTGEVVVT MEPEVPIKKL ETMVKLDATS EAVVKVDVAE
1310 1320 1330 1340 1350
EEKEKKKKKK GTAEEPEEEE PDESMLDWWS KYFASIDTMK EQLRQQEPSG
1360 1370 1380 1390 1400
IDLEEKEEVD NTEGLKGSMK GKEKARAAKE EKKKKTQSSG SGQGSEAPEK
1410 1420 1430 1440 1450
KKPKIDELKV YPKELESEFD NFEDWLHTFN LLRGKTGDDE DGSTEEERIV
1460 1470 1480 1490 1500
GRFKGSLCVY KVPLPEDVSR EAGYDSTYGM FQGIPSNDPI NVLVRVYVVR
1510 1520 1530 1540 1550
ATDLHPADIN GKADPYIAIR LGKTDIRDKE NYISKQLNPV FGKSFDIEAS
1560 1570 1580 1590 1600
FPMESMLTVA VYDWDLVGTD DLIGETKIDL ENRFYSKHRA TCGIAQTYST
1610 1620 1630 1640 1650
HGYNIWRDPM KPSQILTRLC KDGKVDGPHF GPPGRVKVAN RVFTGPSEIE
1660 1670 1680 1690 1700
DENGQRKPTD EHVALLALRH WEDIPRAGCR LVPEHVETRP LLNPDKPGIE
1710 1720 1730 1740 1750
QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIIWN TDEVVLEDDD
1760 1770 1780 1790 1800
FFTGEKSSDI FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL
1810 1820 1830 1840 1850
AAEEKIVISK 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 TYRWLLLKLL LLLLLLLLLA LFLYSVPGYL VKKILGA
Length:1,997
Mass (Da):226,753
Last modified:October 17, 2006 - v3
Checksum:i24DE196371FB7385
GO
Isoform 2 (identifier: Q9HC10-2) [UniParc]FASTAAdd to basket
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

Show »
Length:1,230
Mass (Da):140,295
Checksum:i4DE2F70848ED18E3
GO
Isoform 3 (identifier: Q9HC10-3) [UniParc]FASTAAdd to basket
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

Show »
Length:1,307
Mass (Da):148,927
Checksum:iCDB151AA2CB43174
GO
Isoform 4 (identifier: Q9HC10-4) [UniParc]FASTAAdd to basket
Also known as: Short-3

The sequence of this isoform differs from the canonical sequence as follows:
     1-747: Missing.
     1245-1264: Missing.

Show »
Length:1,230
Mass (Da):140,513
Checksum:iDE8475F1756298EE
GO
Isoform 5 (identifier: Q9HC10-5) [UniParc]FASTAAdd to basket

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

Show »
Length:1,997
Mass (Da):226,535
Checksum:iB7B89B9A4C74F388
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1088L → P in AAD26117 (PubMed:10192385).Curated1
Sequence conflicti1088L → P in AAG12992 (PubMed:10903124).Curated1
Sequence conflicti1088L → P in AAG17468 (PubMed:10903124).Curated1
Sequence conflicti1787G → S in BAG58982 (PubMed:14702039).Curated1
Isoform 3 (identifier: Q9HC10-3)
Sequence conflicti21P → L in AAG12992 (PubMed:10903124).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03222653A → V.1 PublicationCorresponds to variant rs1879761dbSNPEnsembl.1
Natural variantiVAR_03222782R → C.2 PublicationsCorresponds to variant rs13031859dbSNPEnsembl.1
Natural variantiVAR_046003255Q → H in AUNB1. 1 PublicationCorresponds to variant rs397515611dbSNPEnsembl.1
Natural variantiVAR_032228490P → Q in DFNB9. 2 PublicationsCorresponds to variant rs80356585dbSNPEnsembl.1
Natural variantiVAR_032229515I → T in DFNB9 and AUNB1; temperature sensitive. 2 PublicationsCorresponds to variant rs80356586dbSNPEnsembl.1
Natural variantiVAR_032230575V → M.1 PublicationCorresponds to variant rs55676840dbSNPEnsembl.1
Natural variantiVAR_032231773R → S.2 Publications1
Natural variantiVAR_032232794R → H in DFNB9. 1 PublicationCorresponds to variant rs80356592dbSNPEnsembl.1
Natural variantiVAR_028028818R → W.Corresponds to variant rs2272070dbSNPEnsembl.1
Natural variantiVAR_032233822R → W in DFNB9; unknown pathological significance. 2 PublicationsCorresponds to variant rs80356570dbSNPEnsembl.1
Natural variantiVAR_046004964A → E in AUNB1. 1 PublicationCorresponds to variant rs201329629dbSNPEnsembl.1
Natural variantiVAR_0322341011L → P in AUNB1 and DFNB9. 2 PublicationsCorresponds to variant rs80356596dbSNPEnsembl.1
Natural variantiVAR_0322351083A → P.1 PublicationCorresponds to variant rs80356574dbSNPEnsembl.1
Natural variantiVAR_0460051138L → P in AUNB1. 1 PublicationCorresponds to variant rs397515599dbSNPEnsembl.1
Natural variantiVAR_0322361157R → Q.1 PublicationCorresponds to variant rs56054534dbSNPEnsembl.1
Natural variantiVAR_0460061236R → Q.1 Publication1
Natural variantiVAR_0322371322D → E.1 PublicationCorresponds to variant rs80356576dbSNPEnsembl.1
Natural variantiVAR_0358951323E → K in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs546115388dbSNPEnsembl.1
Natural variantiVAR_0358961547I → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0322381625V → M.1 PublicationCorresponds to variant rs80356579dbSNPEnsembl.1
Natural variantiVAR_0280291646P → S.1 PublicationCorresponds to variant rs17005371dbSNPEnsembl.1
Natural variantiVAR_0280301680R → H.Corresponds to variant rs11893228dbSNPEnsembl.1
Natural variantiVAR_0460071688T → K.1 Publication1
Natural variantiVAR_0460081795F → C in AUNB1. 1 PublicationCorresponds to variant rs397515606dbSNPEnsembl.1
Natural variantiVAR_0322391825P → A in DFNB9. 1 PublicationCorresponds to variant rs28937591dbSNPEnsembl.1
Natural variantiVAR_0490571886V → A.Corresponds to variant rs45442103dbSNPEnsembl.1
Natural variantiVAR_0322401888G → D.1 PublicationCorresponds to variant rs80356583dbSNPEnsembl.1
Natural variantiVAR_0322411939R → Q in AUNB1. 1 PublicationCorresponds to variant rs80356605dbSNPEnsembl.1
Natural variantiVAR_0322421987P → R in AUNB1. 1 PublicationCorresponds to variant rs80356606dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0015071 – 747Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST747
Alternative sequenceiVSP_0015091 – 690Missing in isoform 3. 1 PublicationAdd BLAST690
Alternative sequenceiVSP_001510691 – 738MRPQV…IADKL → MMTDTQDGPSESSQIMRSLT PLINREEAFGEAGEAGLWPS ITHTPDSQ in isoform 3. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_0015081245 – 1264Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST20
Alternative sequenceiVSP_0015111943 – 1997SFIWF…KILGA → AFVWFLNPLKSIKYLICTRY KWLIIKIVLALLGLLMLGLF LYSLPGYMVKKLLGA in isoform 2 and isoform 5. 2 PublicationsAdd BLAST55

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1724.1. [Q9HC10-2]
CCDS1725.1. [Q9HC10-1]
CCDS1726.1. [Q9HC10-4]
CCDS46241.1. [Q9HC10-3]
CCDS74497.1. [Q9HC10-5]
RefSeqiNP_001274418.1. NM_001287489.1. [Q9HC10-5]
NP_004793.2. NM_004802.3. [Q9HC10-4]
NP_919224.1. NM_194248.2. [Q9HC10-1]
NP_919303.1. NM_194322.2. [Q9HC10-3]
NP_919304.1. NM_194323.2. [Q9HC10-2]
UniGeneiHs.91608.

Genome annotation databases

EnsembliENST00000272371; ENSP00000272371; ENSG00000115155. [Q9HC10-1]
ENST00000338581; ENSP00000345137; ENSG00000115155. [Q9HC10-4]
ENST00000339598; ENSP00000344521; ENSG00000115155. [Q9HC10-2]
ENST00000402415; ENSP00000383906; ENSG00000115155. [Q9HC10-3]
ENST00000403946; ENSP00000385255; ENSG00000115155. [Q9HC10-5]
GeneIDi9381.
KEGGihsa:9381.
UCSCiuc002rhh.3. human. [Q9HC10-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1724.1. [Q9HC10-2]
CCDS1725.1. [Q9HC10-1]
CCDS1726.1. [Q9HC10-4]
CCDS46241.1. [Q9HC10-3]
CCDS74497.1. [Q9HC10-5]
RefSeqiNP_001274418.1. NM_001287489.1. [Q9HC10-5]
NP_004793.2. NM_004802.3. [Q9HC10-4]
NP_919224.1. NM_194248.2. [Q9HC10-1]
NP_919303.1. NM_194322.2. [Q9HC10-3]
NP_919304.1. NM_194323.2. [Q9HC10-2]
UniGeneiHs.91608.

3D structure databases

ProteinModelPortaliQ9HC10.
SMRiQ9HC10.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114782. 2 interactors.
STRINGi9606.ENSP00000272371.

PTM databases

iPTMnetiQ9HC10.
PhosphoSitePlusiQ9HC10.

Polymorphism and mutation databases

BioMutaiOTOF.
DMDMi116242695.

Proteomic databases

MaxQBiQ9HC10.
PaxDbiQ9HC10.
PeptideAtlasiQ9HC10.
PRIDEiQ9HC10.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272371; ENSP00000272371; ENSG00000115155. [Q9HC10-1]
ENST00000338581; ENSP00000345137; ENSG00000115155. [Q9HC10-4]
ENST00000339598; ENSP00000344521; ENSG00000115155. [Q9HC10-2]
ENST00000402415; ENSP00000383906; ENSG00000115155. [Q9HC10-3]
ENST00000403946; ENSP00000385255; ENSG00000115155. [Q9HC10-5]
GeneIDi9381.
KEGGihsa:9381.
UCSCiuc002rhh.3. human. [Q9HC10-1]

Organism-specific databases

CTDi9381.
DisGeNETi9381.
GeneCardsiOTOF.
GeneReviewsiOTOF.
HGNCiHGNC:8515. OTOF.
HPAiHPA007502.
HPA012410.
MalaCardsiOTOF.
MIMi601071. phenotype.
603681. gene.
neXtProtiNX_Q9HC10.
OpenTargetsiENSG00000115155.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA32841.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1326. Eukaryota.
ENOG410XPT2. LUCA.
GeneTreeiENSGT00550000074414.
HOVERGENiHBG108221.
InParanoidiQ9HC10.
KOiK19949.
OMAiRKPTDEH.
OrthoDBiEOG091G0IG2.
PhylomeDBiQ9HC10.
TreeFamiTF316871.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000115155-MONOMER.

Miscellaneous databases

GeneWikiiOTOF.
GenomeRNAii9381.
PROiQ9HC10.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115155.
CleanExiHS_OTOF.
ExpressionAtlasiQ9HC10. baseline and differential.
GenevisibleiQ9HC10. HS.

Family and domain databases

Gene3Di2.60.40.150. 8 hits.
InterProiIPR000008. C2_dom.
IPR012968. FerIin_dom.
IPR012561. Ferlin_B-domain.
IPR032362. Ferlin_C.
IPR029996. Otoferlin.
[Graphical view]
PANTHERiPTHR12546:SF32. PTHR12546:SF32. 4 hits.
PfamiPF00168. C2. 6 hits.
PF08150. FerB. 1 hit.
PF08151. FerI. 1 hit.
PF16165. Ferlin_C. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 6 hits.
SM01201. FerB. 1 hit.
SM01202. FerI. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 8 hits.
PROSITEiPS50004. C2. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiOTOF_HUMAN
AccessioniPrimary (citable) accession number: Q9HC10
Secondary accession number(s): B4DJX0
, B5MCC1, B9A0H6, Q53R90, Q9HC08, Q9HC09, Q9Y650
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: October 17, 2006
Last modified: November 2, 2016
This is version 151 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.