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Q9HC10

- OTOF_HUMAN

UniProt

Q9HC10 - OTOF_HUMAN

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Protein

Otoferlin

Gene

OTOF

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).By similarity

Cofactori

Ca2+By similarityNote: Binds Ca(2+). 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 By similarity; Single-pass type II membrane protein By similarity. Basolateral cell membrane By similarity; Single-pass type II membrane protein By similarity. Endoplasmic reticulum membrane By similarity; Single-pass type II membrane protein By similarity. Cell membrane By similarity; 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).By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 19631963CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei1964 – 198421HelicalSequence AnalysisAdd
BLAST
Topological domaini1985 – 199713ExtracellularSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. cytosol Source: ProtInc
  3. endoplasmic reticulum Source: UniProtKB-KW
  4. integral component of membrane Source: ProtInc
  5. plasma membrane Source: UniProtKB-KW
  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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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 non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA32841.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 19971997OtoferlinPRO_0000057881Add
BLAST

Proteomic databases

MaxQBiQ9HC10.
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).By similarity

Protein-protein interaction databases

BioGridi114782. 1 interaction.
STRINGi9606.ENSP00000272371.

Structurei

3D structure databases

ProteinModelPortaliQ9HC10.
SMRiQ9HC10. Positions 1-124, 1494-1574.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili792 – 82130Sequence AnalysisAdd
BLAST

Compositional bias

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

eggNOGiCOG5038.
GeneTreeiENSGT00550000074414.
HOVERGENiHBG108221.
InParanoidiQ9HC10.
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

        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 BAG58982.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1088 – 10881L → P in AAD26117. (PubMed:10192385)Curated
Sequence conflicti1088 – 10881L → P in AAG12992. (PubMed:10903124)Curated
Sequence conflicti1088 – 10881L → P in AAG17468. (PubMed:10903124)Curated
Sequence conflicti1787 – 17871G → S in BAG58982. (PubMed:14702039)Curated
Isoform 3 (identifier: Q9HC10-3)
Sequence conflicti21 – 211P → L in AAG12992. (PubMed:10903124)Curated

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. 2 PublicationsVSP_001507Add
BLAST
Alternative sequencei1 – 690690Missing in isoform 3. 1 PublicationVSP_001509Add
BLAST
Alternative sequencei691 – 73848MRPQV…IADKL → MMTDTQDGPSESSQIMRSLT PLINREEAFGEAGEAGLWPS ITHTPDSQ in isoform 3. 1 PublicationVSP_001510Add
BLAST
Alternative sequencei1245 – 126420Missing in isoform 2 and isoform 4. 2 PublicationsVSP_001508Add
BLAST
Alternative sequencei1943 – 199755SFIWF…KILGA → AFVWFLNPLKSIKYLICTRY KWLIIKIVLALLGLLMLGLF LYSLPGYMVKKLLGA in isoform 2 and isoform 5. 2 PublicationsVSP_001511Add
BLAST

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. [Q9HC10-4]
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:
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.
CCDSi CCDS1724.1. [Q9HC10-2 ]
CCDS1725.1. [Q9HC10-1 ]
CCDS1726.1. [Q9HC10-4 ]
CCDS46241.1. [Q9HC10-3 ]
CCDS74497.1. [Q9HC10-5 ]
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, 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

MaxQBi Q9HC10.
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 GC02M026688.
GeneReviewsi OTOF.
HGNCi HGNC:8515. OTOF.
HPAi HPA007502.
HPA012410.
MIMi 601071. phenotype.
603681. gene.
neXtProti NX_Q9HC10.
Orphaneti 90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBi PA32841.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5038.
GeneTreei ENSGT00550000074414.
HOVERGENi HBG108221.
InParanoidi Q9HC10.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 132 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