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Protein

Otoferlin

Gene

OTOF

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

Keywordsi

Biological processHearing
LigandCalcium

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

EuPathDBiHostDB:ENSG00000115155.16
HGNCiHGNC:8515 OTOF
MIMi603681 gene
neXtProtiNX_Q9HC10

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 9 (DFNB9)6 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 dbSNP:rs80356585EnsemblClinVar.1
Natural variantiVAR_032232794R → H in DFNB9. 1 PublicationCorresponds to variant dbSNP:rs80356592EnsemblClinVar.1
Natural variantiVAR_0322361157R → Q in DFNB9. 2 PublicationsCorresponds to variant dbSNP:rs56054534EnsemblClinVar.1
Natural variantiVAR_0322391825P → A in DFNB9. 1 PublicationCorresponds to variant dbSNP:rs28937591EnsemblClinVar.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 dbSNP:rs397515611EnsemblClinVar.1
Natural variantiVAR_046004964A → E in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs201329629EnsemblClinVar.1
Natural variantiVAR_0460051138L → P in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs397515599EnsemblClinVar.1
Natural variantiVAR_0460081795F → C in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs397515606EnsemblClinVar.1
Natural variantiVAR_0322411939R → Q in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs80356605EnsemblClinVar.1
Natural variantiVAR_0322421987P → R in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs80356606EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Neuropathy, Non-syndromic deafness

Organism-specific databases

DisGeNETi9381
GeneReviewsiOTOF
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
ProteomicsDBi81618
81619 [Q9HC10-2]
81620 [Q9HC10-3]
81621 [Q9HC10-4]
81622 [Q9HC10-5]

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 Expressed in 57 organ(s), highest expression level in nucleus accumbens
CleanExiHS_OTOF
ExpressionAtlasiQ9HC10 baseline and differential
GenevisibleiQ9HC10 HS

Organism-specific databases

HPAiHPA012410

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
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

Keywords - Domaini

Coiled coil, Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1326 Eukaryota
ENOG410XPT2 LUCA
GeneTreeiENSGT00550000074414
HOVERGENiHBG108221
InParanoidiQ9HC10
KOiK19949
OMAiCYRFLSL
OrthoDBiEOG091G0IG2
PhylomeDBiQ9HC10
TreeFamiTF316871

Family and domain databases

CDDicd08373 C2A_Ferlin, 1 hit
cd04011 C2B_Ferlin, 1 hit
cd04018 C2C_Ferlin, 1 hit
cd04017 C2D_Ferlin, 1 hit
cd04037 C2E_Ferlin, 1 hit
cd08374 C2F_Ferlin, 1 hit
Gene3Di2.60.40.150, 6 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037726 C2A_Ferlin
IPR037720 C2B_Ferlin
IPR037722 C2C_Ferlin
IPR037723 C2D_Ferlin
IPR037724 C2E_Ferlin
IPR037725 C2F_Ferlin
IPR012968 FerIin_dom
IPR037721 Ferlin
IPR012561 Ferlin_B-domain
IPR032362 Ferlin_C
IPR029996 Otoferlin
PANTHERiPTHR12546 PTHR12546, 1 hit
PTHR12546:SF32 PTHR12546:SF32, 1 hit
PfamiView protein in Pfam
PF00168 C2, 6 hits
PF08150 FerB, 1 hit
PF08151 FerI, 1 hit
PF16165 Ferlin_C, 1 hit
SMARTiView protein in SMART
SM00239 C2, 6 hits
SM01201 FerB, 1 hit
SM01202 FerI, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 4 hits

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2U3TZT7A0A2U3TZT7_HUMAN
Otoferlin
OTOF
1,250Annotation score:
H7BZJ5H7BZJ5_HUMAN
Otoferlin
OTOF
141Annotation score:

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 → V1 PublicationCorresponds to variant dbSNP:rs1879761EnsemblClinVar.1
Natural variantiVAR_03222782R → C2 PublicationsCorresponds to variant dbSNP:rs13031859EnsemblClinVar.1
Natural variantiVAR_046003255Q → H in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs397515611EnsemblClinVar.1
Natural variantiVAR_032228490P → Q in DFNB9. 2 PublicationsCorresponds to variant dbSNP:rs80356585EnsemblClinVar.1
Natural variantiVAR_032229515I → T in DFNB9 and AUNB1; temperature sensitive AUNB1 phenotype with severe hearing loss during febrile illness. 2 PublicationsCorresponds to variant dbSNP:rs80356586EnsemblClinVar.1
Natural variantiVAR_032230575V → M1 PublicationCorresponds to variant dbSNP:rs55676840EnsemblClinVar.1
Natural variantiVAR_032231773R → S2 Publications1
Natural variantiVAR_032232794R → H in DFNB9. 1 PublicationCorresponds to variant dbSNP:rs80356592EnsemblClinVar.1
Natural variantiVAR_028028818R → W. Corresponds to variant dbSNP:rs2272070EnsemblClinVar.1
Natural variantiVAR_032233822R → W3 PublicationsCorresponds to variant dbSNP:rs80356570EnsemblClinVar.1
Natural variantiVAR_046004964A → E in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs201329629EnsemblClinVar.1
Natural variantiVAR_0322341011L → P in AUNB1 and DFNB9. 2 PublicationsCorresponds to variant dbSNP:rs80356596EnsemblClinVar.1
Natural variantiVAR_0322351083A → P1 PublicationCorresponds to variant dbSNP:rs80356574EnsemblClinVar.1
Natural variantiVAR_0460051138L → P in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs397515599EnsemblClinVar.1
Natural variantiVAR_0322361157R → Q in DFNB9. 2 PublicationsCorresponds to variant dbSNP:rs56054534EnsemblClinVar.1
Natural variantiVAR_0460061236R → Q1 Publication1
Natural variantiVAR_0322371322D → E1 PublicationCorresponds to variant dbSNP:rs80356576EnsemblClinVar.1
Natural variantiVAR_0358951323E → K in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs546115388Ensembl.1
Natural variantiVAR_0358961547I → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0322381625V → M1 PublicationCorresponds to variant dbSNP:rs80356579EnsemblClinVar.1
Natural variantiVAR_0280291646P → S1 PublicationCorresponds to variant dbSNP:rs17005371EnsemblClinVar.1
Natural variantiVAR_0280301680R → H. Corresponds to variant dbSNP:rs11893228EnsemblClinVar.1
Natural variantiVAR_0460071688T → K1 Publication1
Natural variantiVAR_0460081795F → C in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs397515606EnsemblClinVar.1
Natural variantiVAR_0322391825P → A in DFNB9. 1 PublicationCorresponds to variant dbSNP:rs28937591EnsemblClinVar.1
Natural variantiVAR_0490571886V → A. Corresponds to variant dbSNP:rs45442103Ensembl.1
Natural variantiVAR_0322401888G → D1 PublicationCorresponds to variant dbSNP:rs80356583EnsemblClinVar.1
Natural variantiVAR_0322411939R → Q in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs80356605EnsemblClinVar.1
Natural variantiVAR_0322421987P → R in AUNB1. 1 PublicationCorresponds to variant dbSNP:rs80356606EnsemblClinVar.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]
ENST00000403946; ENSP00000385255; ENSG00000115155 [Q9HC10-5]
ENST00000646318; ENSP00000494578; ENSG00000115155 [Q9HC10-3]
GeneIDi9381
KEGGihsa:9381
UCSCiuc002rhh.3 human [Q9HC10-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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
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
ProteomicsDBi81618
81619 [Q9HC10-2]
81620 [Q9HC10-3]
81621 [Q9HC10-4]
81622 [Q9HC10-5]

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]
ENST00000403946; ENSP00000385255; ENSG00000115155 [Q9HC10-5]
ENST00000646318; ENSP00000494578; ENSG00000115155 [Q9HC10-3]
GeneIDi9381
KEGGihsa:9381
UCSCiuc002rhh.3 human [Q9HC10-1]

Organism-specific databases

CTDi9381
DisGeNETi9381
EuPathDBiHostDB:ENSG00000115155.16
GeneCardsiOTOF
GeneReviewsiOTOF
HGNCiHGNC:8515 OTOF
HPAiHPA012410
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
OMAiCYRFLSL
OrthoDBiEOG091G0IG2
PhylomeDBiQ9HC10
TreeFamiTF316871

Miscellaneous databases

ChiTaRSiOTOF human
GeneWikiiOTOF
GenomeRNAii9381
PROiPR:Q9HC10
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115155 Expressed in 57 organ(s), highest expression level in nucleus accumbens
CleanExiHS_OTOF
ExpressionAtlasiQ9HC10 baseline and differential
GenevisibleiQ9HC10 HS

Family and domain databases

CDDicd08373 C2A_Ferlin, 1 hit
cd04011 C2B_Ferlin, 1 hit
cd04018 C2C_Ferlin, 1 hit
cd04017 C2D_Ferlin, 1 hit
cd04037 C2E_Ferlin, 1 hit
cd08374 C2F_Ferlin, 1 hit
Gene3Di2.60.40.150, 6 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037726 C2A_Ferlin
IPR037720 C2B_Ferlin
IPR037722 C2C_Ferlin
IPR037723 C2D_Ferlin
IPR037724 C2E_Ferlin
IPR037725 C2F_Ferlin
IPR012968 FerIin_dom
IPR037721 Ferlin
IPR012561 Ferlin_B-domain
IPR032362 Ferlin_C
IPR029996 Otoferlin
PANTHERiPTHR12546 PTHR12546, 1 hit
PTHR12546:SF32 PTHR12546:SF32, 1 hit
PfamiView protein in Pfam
PF00168 C2, 6 hits
PF08150 FerB, 1 hit
PF08151 FerI, 1 hit
PF16165 Ferlin_C, 1 hit
SMARTiView protein in SMART
SM00239 C2, 6 hits
SM01201 FerB, 1 hit
SM01202 FerI, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiOTOF_HUMAN
AccessioniPrimary (citable) accession number: Q9HC10
Secondary accession number(s): B4DJX0
, B5MCC1, B9A0H6, Q53R90, Q9HC08, Q9HC09, Q9Y650
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 166 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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