ID E9PYR6_MOUSE Unreviewed; 1997 AA.
AC E9PYR6;
DT 05-APR-2011, integrated into UniProtKB/TrEMBL.
DT 05-APR-2011, sequence version 1.
DT 27-MAR-2024, entry version 91.
DE SubName: Full=Otoferlin {ECO:0000313|Ensembl:ENSMUSP00000073803.7};
GN Name=Otof {ECO:0000313|Ensembl:ENSMUSP00000073803.7,
GN ECO:0000313|MGI:MGI:1891247};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090 {ECO:0000313|Ensembl:ENSMUSP00000073803.7, ECO:0000313|Proteomes:UP000000589};
RN [1] {ECO:0000313|Ensembl:ENSMUSP00000073803.7, ECO:0000313|Proteomes:UP000000589}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J {ECO:0000313|Ensembl:ENSMUSP00000073803.7,
RC ECO:0000313|Proteomes:UP000000589};
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2] {ECO:0000313|Ensembl:ENSMUSP00000073803.7}
RP IDENTIFICATION.
RC STRAIN=C57BL/6J {ECO:0000313|Ensembl:ENSMUSP00000073803.7};
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
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DR RefSeq; NP_114081.2; NM_031875.2.
DR RefSeq; XP_017176674.1; XM_017321185.1.
DR SMR; E9PYR6; -.
DR ProteomicsDB; 359034; -.
DR Antibodypedia; 2369; 69 antibodies from 22 providers.
DR DNASU; 83762; -.
DR Ensembl; ENSMUST00000074171.10; ENSMUSP00000073803.7; ENSMUSG00000062372.14.
DR GeneID; 83762; -.
DR KEGG; mmu:83762; -.
DR UCSC; uc008wvk.1; mouse.
DR AGR; MGI:1891247; -.
DR CTD; 9381; -.
DR MGI; MGI:1891247; Otof.
DR VEuPathDB; HostDB:ENSMUSG00000062372; -.
DR GeneTree; ENSGT00940000155086; -.
DR OMA; WANIYGA; -.
DR OrthoDB; 991411at2759; -.
DR PhylomeDB; E9PYR6; -.
DR TreeFam; TF316871; -.
DR BioGRID-ORCS; 83762; 1 hit in 78 CRISPR screens.
DR Proteomes; UP000000589; Chromosome 5.
DR Bgee; ENSMUSG00000062372; Expressed in vestibular epithelium and 40 other cell types or tissues.
DR ExpressionAtlas; E9PYR6; baseline and differential.
DR GO; GO:0016020; C:membrane; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR CDD; cd08373; C2A_Ferlin; 1.
DR CDD; cd04011; C2B_Ferlin; 1.
DR CDD; cd04018; C2C_Ferlin; 1.
DR CDD; cd04017; C2D_Ferlin; 1.
DR CDD; cd04037; C2E_Ferlin; 1.
DR CDD; cd08374; C2F_Ferlin; 1.
DR Gene3D; 2.60.40.150; C2 domain; 6.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR037726; C2A_Ferlin.
DR InterPro; IPR037720; C2B_Ferlin.
DR InterPro; IPR037722; C2C_Ferlin.
DR InterPro; IPR037723; C2D_Ferlin.
DR InterPro; IPR037724; C2E_Ferlin.
DR InterPro; IPR037725; C2F_Ferlin.
DR InterPro; IPR012968; FerIin_dom.
DR InterPro; IPR037721; Ferlin.
DR InterPro; IPR012561; Ferlin_B-domain.
DR InterPro; IPR032362; Ferlin_C.
DR PANTHER; PTHR12546; FER-1-LIKE; 1.
DR PANTHER; PTHR12546:SF32; OTOFERLIN; 1.
DR Pfam; PF00168; C2; 6.
DR Pfam; PF08150; FerB; 1.
DR Pfam; PF08151; FerI; 1.
DR Pfam; PF16165; Ferlin_C; 1.
DR PRINTS; PR00360; C2DOMAIN.
DR SMART; SM00239; C2; 6.
DR SMART; SM01201; FerB; 1.
DR SMART; SM01202; FerI; 1.
DR SUPFAM; SSF49562; C2 domain (Calcium/lipid-binding domain, CaLB); 7.
DR PROSITE; PS50004; C2; 7.
PE 4: Predicted;
KW Calcium {ECO:0000256|ARBA:ARBA00022837};
KW Membrane {ECO:0000256|ARBA:ARBA00023136, ECO:0000256|SAM:Phobius};
KW Metal-binding {ECO:0000256|ARBA:ARBA00022723};
KW Reference proteome {ECO:0000313|Proteomes:UP000000589};
KW Repeat {ECO:0000256|ARBA:ARBA00022737};
KW Transmembrane {ECO:0000256|ARBA:ARBA00022692, ECO:0000256|SAM:Phobius};
KW Transmembrane helix {ECO:0000256|ARBA:ARBA00022989,
KW ECO:0000256|SAM:Phobius}.
FT TRANSMEM 1962..1984
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT DOMAIN 1..98
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 235..356
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 399..530
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 943..1068
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1115..1241
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1464..1593
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1714..1865
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT REGION 140..167
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 643..692
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1253..1272
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1296..1326
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1343..1402
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 648..663
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 664..679
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1296..1315
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1343..1387
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1997 AA; 227007 MW; D35D6A8E541B7B55 CRC64;
MALIVHLKTV SELRGKGDRI AKVTFRGQSF YSRVLENCEG VADFDETFRW PVASSIDRNE
VLEIQIFNYS KVFSNKLIGT FCMVLQKVVE ENRVEVTDTL MDDSNAIIKT SLSMEVRYQA
TDGTVGPWDD GDFLGDESLQ EEKDSQETDG LLPGSRPSTR ISGEKSFRRA GRSVFSAMKL
GKTRSHKEEP QRQDEPAVLE MEDLDHLAIQ LGDGLDPDSV SLASVTALTS NVSNKRSKPD
IKMEPSAGRP MDYQVSITVI EARQLVGLNM DPVVCVEVGD DKKYTSMKES TNCPYYNEYF
VFDFHVSPDV MFDKIIKISV IHSKNLLRSG TLVGSFKMDV GTVYSQPEHQ FHHKWAILSD
PDDISAGLKG YVKCDVAVVG KGDNIKTPHK ANETDEDDIE GNLLLPEGVP PERQWARFYV
KIYRAEGLPR MNTSLMANVK KAFIGENKDL VDPYVQVFFA GQKGKTSVQK SSYEPLWNEQ
VVFTDLFPPL CKRMKVQIRD SDKVNDVAIG THFIDLRKIS NDGDKGFLPT LGPAWVNMYG
STRNYTLLDE HQDLNEGLGE GVSFRARLML GLAVEILDTS NPELTSSTEV QVEQATPVSE
SCTGRMEEFF LFGAFLEASM IDRKNGDKPI TFEVTIGNYG NEVDGMSRPL RPRPRKEPGD
EEEVDLIQNS SDDEGDEAGD LASVSSTPPM RPQITDRNYF HLPYLERKPC IYIKSWWPDQ
RRRLYNANIM DHIADKLEEG LNDVQEMIKT EKSYPERRLR GVLEELSCGC HRFLSLSDKD
QGRSSRTRLD RERLKSCMRE LESMGQQAKS LRAQVKRHTV RDKLRSCQNF LQKLRFLADE
PQHSIPDVFI WMMSNNKRIA YARVPSKDLL FSIVEEELGK DCAKVKTLFL KLPGKRGFGS
AGWTVQAKLE LYLWLGLSKQ RKDFLCGLPC GFEEVKAAQG LGLHSFPPIS LVYTKKQAFQ
LRAHMYQARS LFAADSSGLS DPFARVFFIN QSQCTEVLNE TLCPTWDQML VFDNLELYGE
AHELRDDPPI IVIEIYDQDS MGKADFMGRT FAKPLVKMAD EAYCPPRFPP QLEYYQIYRG
SATAGDLLAA FELLQIGPSG KADLPPINGP VDMDRGPIMP VPVGIRPVLS KYRVEVLFWG
LRDLKRVNLA QVDRPRVDIE CAGKGVQSSL IHNYKKNPNF NTLVKWFEVD LPENELLHPP
LNIRVVDCRA FGRYTLVGSH AVSSLRRFIY RPPDRSAPNW NTTVRLLRGC HRLRNGGPSS
RPTGEVVVSM EPEEPVKKLE TMVKLDATSD AVVKVDVAED EKERKKKKKK GPSEEPEEEE
PDESMLDWWS KYFASIDTMK EQLRQHETSG TDLEEKEEME SAEGLKGPMK SKEKSRAAKE
EKKKKNQSPG PGQGSEAPEK KKAKIDELKV YPKELESEFD SFEDWLHTFN LLRGKTGDDE
DGSTEEERIV GRFKGSLCVY KVPLPEDVSR EAGYDPTYGM FQGIPSNDPI NVLVRIYVVR
ATDLHPADIN GKADPYIAIK LGKTDIRDKE NYISKQLNPV FGKSFDIEAS FPMESMLTVA
VYDWDLVGTD DLIGETKIDL ENRFYSKHRA TCGIAQTYSI HGYNIWRDPM KPSQILTRLC
KEGKVDGPHF GPHGRVRVAN RVFTGPSEIE DENGQRKPTD EHVALSALRH WEDIPRVGCR
LVPEHVETRP LLNPDKPGIE QGRLELWVDM FPMDMPAPGT PLDISPRKPK KYELRVIVWN
TDEVVLEDDD FFTGEKSSDI FVRGWLKGQQ EDKQDTDVHY HSLTGEGNFN WRYLFPFDYL
AAEEKIVMSK KESMFSWDET EYKIPARLTL QIWDADHFSA DDFLGAIELD LNRFPRGAKT
AKQCTMEMAT GEVDVPLVSI FKQKRVKGWW PLLARNENDE FELTGKVEAE LHLLTAEEAE
KNPVGLARNE PDPLEKPNRP DTSFIWFLNP LKSARYFLWH TYRWLLLKFL LLFLLLLLFA
LFLYSLPGYL AKKILGA
//
