ID A0A3P8YGM8_ESOLU Unreviewed; 1567 AA.
AC A0A3P8YGM8;
DT 13-FEB-2019, integrated into UniProtKB/TrEMBL.
DT 02-DEC-2020, sequence version 2.
DT 24-JAN-2024, entry version 21.
DE SubName: Full=Otoferlin a {ECO:0000313|Ensembl:ENSELUP00000015075.2};
OS Esox lucius (Northern pike).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Protacanthopterygii; Esociformes;
OC Esocidae; Esox.
OX NCBI_TaxID=8010 {ECO:0000313|Ensembl:ENSELUP00000015075.2, ECO:0000313|Proteomes:UP000265140};
RN [1] {ECO:0000313|Ensembl:ENSELUP00000015075.2, ECO:0000313|Proteomes:UP000265140}
RP NUCLEOTIDE SEQUENCE.
RX PubMed=25069045;
RA Rondeau E.B., Minkley D.R., Leong J.S., Messmer A.M., Jantzen J.R.,
RA von Schalburg K.R., Lemon C., Bird N.H., Koop B.F.;
RT "The genome and linkage map of the northern pike (Esox lucius): conserved
RT synteny revealed between the salmonid sister group and the Neoteleostei.";
RL PLoS ONE 9:e102089-e102089(2014).
RN [2] {ECO:0000313|Ensembl:ENSELUP00000015075.2}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (SEP-2023) to UniProtKB.
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DR Ensembl; ENSELUT00000024064.2; ENSELUP00000015075.2; ENSELUG00000000557.2.
DR GeneTree; ENSGT00940000155086; -.
DR Proteomes; UP000265140; LG18.
DR Bgee; ENSELUG00000000557; Expressed in brain and 4 other cell types or tissues.
DR GO; GO:0016020; C:membrane; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
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; 5.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
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; 5.
DR Pfam; PF08150; FerB; 1.
DR Pfam; PF08151; FerI; 1.
DR Pfam; PF16165; Ferlin_C; 1.
DR SMART; SM00239; C2; 5.
DR SMART; SM01201; FerB; 1.
DR SMART; SM01202; FerI; 1.
DR SUPFAM; SSF49562; C2 domain (Calcium/lipid-binding domain, CaLB); 6.
DR PROSITE; PS50004; C2; 6.
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:UP000265140};
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 1534..1554
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT DOMAIN 31..154
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 174..309
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 681..807
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 850..977
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1068..1186
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1292..1444
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT REGION 421..467
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 973..1007
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 422..437
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 438..459
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 985..1006
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1567 AA; 178573 MW; 250895D8B38264FF CRC64;
MEDLDRKPIR LDPDCISLAS CTAVTTNVSN KRSKPDIKME PSSGRPVDYQ ISVTVVEARQ
LVGLNMDPVV CVEIGDDKKY TSMKESTNCP YYNEVHASFS FSLCFPHIPS PLFFYSDRLE
TVRRAAEHQF YHKWAMLSDP DDITAGCKGY VKCDIAVVAK GDNIKTPHKA NETDEDDIEG
NLLLPEGVPA ERQWARFYVK VYRAEGLPKM NTNLMANVKK AFIGENRDLV DPYVQVVFAG
QKGKTSVQKS SYEPIWNEQV VFTEMFPPLC KRMKVQIRDS DKVNDVAIGT HFIDLRKIAN
DGDKGFLPTM GPAWVNMYGS TRQYTLMDEH QDLNEGLGEG VSFRARLLIS VAVEILDTGS
SEIVSSTEVQ VEPVSHISEV KEFFLFGSFL EATMIDRKIG DKPISFEVTI GNYGNHIDGV
SKTSAAKKKR KEGGGESDED DSELIQQNSS EDEADDDADL VSVSSTPPMK PVITDRNYFH
LPYFEKKPCI YIKSWWQDQR RRLYNSNIMD KMADKLDQHQ AGRTKLDKER LKSCMREMES
IGQQAKLIRF QVKRNTVRDK LKIVQNFLHR LRFLADEPQH SIPDVFIWMM SNNKRIAYAR
IPSKDVLFSI VDEETGKDCG KVKAVFLRLP GKKGFGPAGW TVQAKMEMYL WLGLNKQKKD
FLSGLPNGFE EIKAPRTASC LQSLPPISLV YNSKYQVFQL RAHMYQARSL FAADSSGLSD
PFARVFFSTH SQVTEVLSET LCPTWDQLLV FDDVELFGEA GELRDDPPMI VVEVYDQDTV
GKAEFIGRTF AKPITKMCDE HYGPPRFPPQ LEYYQIYRGN STAGDLLAAF ELLQVKWPHL
PSLDGHTDSD RGPILPVPMG IRPILSRYRI EVLFWGLRDL KRVNLAQVDR PRVDIECAGK
GVQSALIQSY KKNPNFSTLV KWFEVDLPEN ELLHPPLNIR VVDCRAFGRY TLVGSHAVTS
LRRFIYSPPD KMQQNWASSG SQSVQDNEEE KEEKKKKKKK KGELEEEDET DESMFDWWSK
YFASIETLME GMRKNRESFF WIVGRFKGSM CMYKLPLSEE ITREAGFDPN LGMFQSIPHN
DPINVLVRVY IVRATDLHPA DINGKADPYI VIKLGKSELK DKENYISKQL NPVFGKAFDI
QATFPMESML TVSVYDWDLV GTDDLIGETK VDLENRYYSK HRATCGIASN YSVHGYNVWR
DPLKPSQILA KLCKEAKLDG PLYGPGGRVK VANCIFTDEH LALTVLKHWE EIPRVGCKLI
PEHVETRPLL HPEKPGIEQG RVEMWVDMFP MDMPAPGPAI DISPRKPKSF ELRVIIWNTD
DVILEDDAFM TGEKMSDIYV RGWLKGQQED KQDTDVHYHS LTGEGNFNWR FVFPFDYLMA
EEKIVISKKE SMFSWDETEY KIPARLTLQV WDADHFSADD FLGSAIELDL NRFPRGAKTA
KQCSIGMVQN EADLPCISIF KQKRVKGWWP FVGKVEAELH LMSAEEAEKS PVGLGRNEPD
PLEKPNRPNT SLSWLLSPVR VVCILAWRQY KLHCVLLLWA VLTILFLGLL FFSMPSALSN
KIFNIAG
//
