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Q9HC10

- OTOF_HUMAN

UniProt

Q9HC10 - OTOF_HUMAN

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Protein
Otoferlin
Gene
OTOF, FER1L2
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

Cofactori

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

GO - Molecular functioni

  1. calcium ion binding Source: UniProtKB

GO - Biological processi

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

Keywords - Biological processi

Hearing

Keywords - Ligandi

Calcium

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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:8515. OTOF.

Subcellular locationi

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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 19631963Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1964 – 198421Helical; Reviewed prediction
Add
BLAST
Topological domaini1985 – 199713Extracellular Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. basolateral plasma membrane Source: UniProtKB-SubCell
  2. cell junction Source: UniProtKB-KW
  3. cytosol Source: ProtInc
  4. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  5. integral component of membrane Source: ProtInc
  6. 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) [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.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti490 – 4901P → Q in DFNB9. 2 Publications
VAR_032228
Natural varianti515 – 5151I → T in DFNB9 and AUNB1; temperature sensitive. 2 Publications
VAR_032229
Natural varianti794 – 7941R → H in DFNB9. 1 Publication
Corresponds to variant rs80356592 [ dbSNP | Ensembl ].
VAR_032232
Natural varianti822 – 8221R → W in DFNB9; unknown pathological significance. 2 Publications
Corresponds to variant rs80356570 [ dbSNP | Ensembl ].
VAR_032233
Natural varianti1011 – 10111L → P in AUNB1 and DFNB9. 2 Publications
VAR_032234
Natural varianti1825 – 18251P → A in DFNB9. 1 Publication
Corresponds to variant rs28937591 [ dbSNP | Ensembl ].
VAR_032239
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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti255 – 2551Q → H in AUNB1. 1 Publication
VAR_046003
Natural varianti515 – 5151I → T in DFNB9 and AUNB1; temperature sensitive. 2 Publications
VAR_032229
Natural varianti964 – 9641A → E in AUNB1. 1 Publication
VAR_046004
Natural varianti1011 – 10111L → P in AUNB1 and DFNB9. 2 Publications
VAR_032234
Natural varianti1138 – 11381L → P in AUNB1. 1 Publication
VAR_046005
Natural varianti1795 – 17951F → C in AUNB1. 1 Publication
VAR_046008
Natural varianti1939 – 19391R → Q in AUNB1. 1 Publication
VAR_032241
Natural varianti1987 – 19871P → R in AUNB1. 1 Publication
VAR_032242

Keywords - Diseasei

Deafness, Disease mutation, Neuropathy, Non-syndromic deafness

Organism-specific databases

MIMi601071. phenotype.
Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBiPA32841.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 19971997Otoferlin
PRO_0000057881Add
BLAST

Proteomic databases

PaxDbiQ9HC10.
PRIDEiQ9HC10.

PTM databases

PhosphoSiteiQ9HC10.

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

BgeeiQ9HC10.
CleanExiHS_OTOF.
GenevestigatoriQ9HC10.

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.

Protein-protein interaction databases

BioGridi114782. 1 interaction.
STRINGi9606.ENSP00000272371.

Structurei

3D structure databases

ProteinModelPortaliQ9HC10.
SMRiQ9HC10. Positions 1-124, 418-522, 962-1052, 1494-1574.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini241 – 33898C2 1
Add
BLAST
Domaini404 – 514111C2 2
Add
BLAST
Domaini947 – 1052106C2 3
Add
BLAST
Domaini1479 – 157799C2 4
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili792 – 82130 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1303 – 13108Poly-Lys
Compositional biasi1314 – 13207Poly-Glu
Compositional biasi1965 – 198319Poly-Leu
Add
BLAST

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.

Sequence similaritiesi

Belongs to the ferlin family.
Contains 4 C2 domains.

Keywords - Domaini

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

Phylogenomic databases

eggNOGiCOG5038.
HOVERGENiHBG108221.
OMAiCMRELEN.
OrthoDBiEOG7J9VNQ.
PhylomeDBiQ9HC10.
TreeFamiTF316871.

Family and domain databases

Gene3Di2.60.40.150. 8 hits.
InterProiIPR000008. C2_dom.
IPR012968. FerIin-domain.
IPR012561. Ferlin_B-domain.
[Graphical view]
PfamiPF00168. C2. 7 hits.
PF08150. FerB. 1 hit.
PF08151. FerI. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 6 hits.
[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. Align

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

MALLIHLKTV SELRGRGDRI AKVTFRGQSF YSRVLENCED VADFDETFRW     50
PVASSIDRNE MLEIQVFNYS KVFSNKLIGT FRMVLQKVVE ESHVEVTDTL 100
IDDNNAIIKT SLCVEVRYQA TDGTVGSWDD GDFLGDESLQ EEEKDSQETD 150
GLLPGSRPSS RPPGEKSFRR AGRSVFSAMK LGKNRSHKEE PQRPDEPAVL 200
EMEDLDHLAI RLGDGLDPDS VSLASVTALT TNVSNKRSKP DIKMEPSAGR 250
PMDYQVSITV IEARQLVGLN MDPVVCVEVG DDKKYTSMKE STNCPYYNEY 300
FVFDFHVSPD VMFDKIIKIS VIHSKNLLRS GTLVGSFKMD VGTVYSQPEH 350
QFHHKWAILS DPDDISSGLK GYVKCDVAVV GKGDNIKTPH KANETDEDDI 400
EGNLLLPEGV PPERQWARFY VKIYRAEGLP RMNTSLMANV KKAFIGENKD 450
LVDPYVQVFF AGQKGKTSVQ KSSYEPLWNE QVVFTDLFPP LCKRMKVQIR 500
DSDKVNDVAI GTHFIDLRKI SNDGDKGFLP TLGPAWVNMY GSTRNYTLLD 550
EHQDLNEGLG EGVSFRARLL LGLAVEIVDT SNPELTSSTE VQVEQATPIS 600
ESCAGKMEEF FLFGAFLEAS MIDRRNGDKP ITFEVTIGNY GNEVDGLSRP 650
QRPRPRKEPG DEEEVDLIQN ASDDEAGDAG DLASVSSTPP MRPQVTDRNY 700
FHLPYLERKP CIYIKSWWPD QRRRLYNANI MDHIADKLEE GLNDIQEMIK 750
TEKSYPERRL RGVLEELSCG CCRFLSLADK DQGHSSRTRL DRERLKSCMR 800
ELENMGQQAR MLRAQVKRHT VRDKLRLCQN FLQKLRFLAD EPQHSIPDIF 850
IWMMSNNKRV AYARVPSKDL LFSIVEEETG KDCAKVKTLF LKLPGKRGFG 900
SAGWTVQAKV ELYLWLGLSK QRKEFLCGLP CGFQEVKAAQ GLGLHAFPPV 950
SLVYTKKQAF QLRAHMYQAR SLFAADSSGL SDPFARVFFI NQSQCTEVLN 1000
ETLCPTWDQM LVFDNLELYG EAHELRDDPP IIVIEIYDQD SMGKADFMGR 1050
TFAKPLVKMA DEAYCPPRFP PQLEYYQIYR GNATAGDLLA AFELLQIGPA 1100
GKADLPPING PVDVDRGPIM PVPMGIRPVL SKYRVEVLFW GLRDLKRVNL 1150
AQVDRPRVDI ECAGKGVQSS LIHNYKKNPN FNTLVKWFEV DLPENELLHP 1200
PLNIRVVDCR AFGRYTLVGS HAVSSLRRFI YRPPDRSAPS WNTTVRLLRR 1250
CRVLCNGGSS SHSTGEVVVT MEPEVPIKKL ETMVKLDATS EAVVKVDVAE 1300
EEKEKKKKKK GTAEEPEEEE PDESMLDWWS KYFASIDTMK EQLRQQEPSG 1350
IDLEEKEEVD NTEGLKGSMK GKEKARAAKE EKKKKTQSSG SGQGSEAPEK 1400
KKPKIDELKV YPKELESEFD NFEDWLHTFN LLRGKTGDDE DGSTEEERIV 1450
GRFKGSLCVY KVPLPEDVSR EAGYDSTYGM FQGIPSNDPI NVLVRVYVVR 1500
ATDLHPADIN GKADPYIAIR LGKTDIRDKE NYISKQLNPV FGKSFDIEAS 1550
FPMESMLTVA VYDWDLVGTD DLIGETKIDL ENRFYSKHRA TCGIAQTYST 1600
HGYNIWRDPM KPSQILTRLC KDGKVDGPHF GPPGRVKVAN RVFTGPSEIE 1650
DENGQRKPTD EHVALLALRH WEDIPRAGCR LVPEHVETRP LLNPDKPGIE 1700
QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIIWN TDEVVLEDDD 1750
FFTGEKSSDI FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL 1800
AAEEKIVISK KESMFSWDET EYKIPARLTL QIWDADHFSA DDFLGAIELD 1850
LNRFPRGAKT AKQCTMEMAT GEVDVPLVSI FKQKRVKGWW PLLARNENDE 1900
FELTGKVEAE LHLLTAEEAE KNPVGLARNE PDPLEKPNRP DTSFIWFLNP 1950
LKSARYFLWH TYRWLLLKLL LLLLLLLLLA LFLYSVPGYL VKKILGA 1997
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 BAG58982.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531A → V.1 Publication
Corresponds to variant rs1879761 [ dbSNP | Ensembl ].
VAR_032226
Natural varianti82 – 821R → C.2 Publications
Corresponds to variant rs13031859 [ dbSNP | Ensembl ].
VAR_032227
Natural varianti255 – 2551Q → H in AUNB1. 1 Publication
VAR_046003
Natural varianti490 – 4901P → Q in DFNB9. 2 Publications
VAR_032228
Natural varianti515 – 5151I → T in DFNB9 and AUNB1; temperature sensitive. 2 Publications
VAR_032229
Natural varianti575 – 5751V → M.1 Publication
Corresponds to variant rs55676840 [ dbSNP | Ensembl ].
VAR_032230
Natural varianti773 – 7731R → S.2 Publications
VAR_032231
Natural varianti794 – 7941R → H in DFNB9. 1 Publication
Corresponds to variant rs80356592 [ dbSNP | Ensembl ].
VAR_032232
Natural varianti818 – 8181R → W.
Corresponds to variant rs2272070 [ dbSNP | Ensembl ].
VAR_028028
Natural varianti822 – 8221R → W in DFNB9; unknown pathological significance. 2 Publications
Corresponds to variant rs80356570 [ dbSNP | Ensembl ].
VAR_032233
Natural varianti964 – 9641A → E in AUNB1. 1 Publication
VAR_046004
Natural varianti1011 – 10111L → P in AUNB1 and DFNB9. 2 Publications
VAR_032234
Natural varianti1083 – 10831A → P.1 Publication
Corresponds to variant rs80356574 [ dbSNP | Ensembl ].
VAR_032235
Natural varianti1138 – 11381L → P in AUNB1. 1 Publication
VAR_046005
Natural varianti1157 – 11571R → Q.1 Publication
Corresponds to variant rs56054534 [ dbSNP | Ensembl ].
VAR_032236
Natural varianti1236 – 12361R → Q.1 Publication
VAR_046006
Natural varianti1322 – 13221D → E.1 Publication
Corresponds to variant rs80356576 [ dbSNP | Ensembl ].
VAR_032237
Natural varianti1323 – 13231E → K in a breast cancer sample; somatic mutation. 1 Publication
VAR_035895
Natural varianti1547 – 15471I → V in a breast cancer sample; somatic mutation. 1 Publication
VAR_035896
Natural varianti1625 – 16251V → M.1 Publication
VAR_032238
Natural varianti1646 – 16461P → S.1 Publication
Corresponds to variant rs17005371 [ dbSNP | Ensembl ].
VAR_028029
Natural varianti1680 – 16801R → H.
Corresponds to variant rs11893228 [ dbSNP | Ensembl ].
VAR_028030
Natural varianti1688 – 16881T → K.1 Publication
VAR_046007
Natural varianti1795 – 17951F → C in AUNB1. 1 Publication
VAR_046008
Natural varianti1825 – 18251P → A in DFNB9. 1 Publication
Corresponds to variant rs28937591 [ dbSNP | Ensembl ].
VAR_032239
Natural varianti1886 – 18861V → A.
Corresponds to variant rs45442103 [ dbSNP | Ensembl ].
VAR_049057
Natural varianti1888 – 18881G → D.1 Publication
VAR_032240
Natural varianti1939 – 19391R → Q in AUNB1. 1 Publication
VAR_032241
Natural varianti1987 – 19871P → R in AUNB1. 1 Publication
VAR_032242

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 747747Missing in isoform 2 and isoform 4.
VSP_001507Add
BLAST
Alternative sequencei1 – 690690Missing in isoform 3.
VSP_001509Add
BLAST
Alternative sequencei691 – 73848MRPQV…IADKL → MMTDTQDGPSESSQIMRSLT PLINREEAFGEAGEAGLWPS ITHTPDSQ in isoform 3.
VSP_001510Add
BLAST
Alternative sequencei1245 – 126420Missing in isoform 2 and isoform 4.
VSP_001508Add
BLAST
Alternative sequencei1943 – 199755SFIWF…KILGA → AFVWFLNPLKSIKYLICTRY KWLIIKIVLALLGLLMLGLF LYSLPGYMVKKLLGA in isoform 2 and isoform 5.
VSP_001511Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1088 – 10881L → P in AAD26117. 1 Publication
Sequence conflicti1088 – 10881L → P in AAG12992. 1 Publication
Sequence conflicti1088 – 10881L → P in AAG17468. 1 Publication
Sequence conflicti1787 – 17871G → S in BAG58982. 1 Publication
Isoform 3 (identifier: Q9HC10-3)
Sequence conflicti21 – 211P → L in AAG12992. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
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. [Q9HC10-4]
uc002rhi.3. human. [Q9HC10-3]
uc002rhj.3. human. [Q9HC10-2]
uc002rhk.3. human. [Q9HC10-1]

Polymorphism databases

DMDMi116242695.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS1724.1. [Q9HC10-2 ]
CCDS1725.1. [Q9HC10-1 ]
CCDS1726.1. [Q9HC10-4 ]
CCDS46241.1. [Q9HC10-3 ]
RefSeqi NP_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 ]
UniGenei Hs.91608.

3D structure databases

ProteinModelPortali Q9HC10.
SMRi Q9HC10. Positions 1-124, 418-522, 962-1052, 1494-1574.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114782. 1 interaction.
STRINGi 9606.ENSP00000272371.

PTM databases

PhosphoSitei Q9HC10.

Polymorphism databases

DMDMi 116242695.

Proteomic databases

PaxDbi Q9HC10.
PRIDEi Q9HC10.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000272371 ; ENSP00000272371 ; ENSG00000115155 . [Q9HC10-1 ]
ENST00000338581 ; ENSP00000345137 ; ENSG00000115155 . [Q9HC10-4 ]
ENST00000339598 ; ENSP00000344521 ; ENSG00000115155 . [Q9HC10-2 ]
ENST00000402415 ; ENSP00000383906 ; ENSG00000115155 . [Q9HC10-3 ]
ENST00000403946 ; ENSP00000385255 ; ENSG00000115155 . [Q9HC10-5 ]
GeneIDi 9381.
KEGGi hsa:9381.
UCSCi uc002rhh.3. human. [Q9HC10-4 ]
uc002rhi.3. human. [Q9HC10-3 ]
uc002rhj.3. human. [Q9HC10-2 ]
uc002rhk.3. human. [Q9HC10-1 ]

Organism-specific databases

CTDi 9381.
GeneCardsi GC02M026591.
GeneReviewsi OTOF.
HGNCi HGNC:8515. OTOF.
HPAi HPA007502.
HPA012410.
MIMi 601071. phenotype.
603681. gene.
neXtProti NX_Q9HC10.
Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBi PA32841.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5038.
HOVERGENi HBG108221.
OMAi CMRELEN.
OrthoDBi EOG7J9VNQ.
PhylomeDBi Q9HC10.
TreeFami TF316871.

Miscellaneous databases

GeneWikii OTOF.
GenomeRNAii 9381.
NextBioi 35152.
PROi Q9HC10.
SOURCEi Search...

Gene expression databases

Bgeei Q9HC10.
CleanExi HS_OTOF.
Genevestigatori Q9HC10.

Family and domain databases

Gene3Di 2.60.40.150. 8 hits.
InterProi IPR000008. C2_dom.
IPR012968. FerIin-domain.
IPR012561. Ferlin_B-domain.
[Graphical view ]
Pfami PF00168. C2. 7 hits.
PF08150. FerB. 1 hit.
PF08151. FerI. 1 hit.
[Graphical view ]
SMARTi SM00239. C2. 6 hits.
[Graphical view ]
SUPFAMi SSF49562. SSF49562. 8 hits.
PROSITEi PS50004. C2. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

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  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. 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. Cited for: VARIANTS [LARGE SCALE ANALYSIS] LYS-1323 AND VAL-1547.
  12. Cited for: VARIANTS AUNB1 HIS-255; GLU-964; PRO-1138 AND CYS-1795, VARIANTS GLN-1236 AND LYS-1688.

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: July 9, 2014
This is version 129 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

External Data

Dasty 3

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