ID A0A2U3X9A1_LEPWE Unreviewed; 2083 AA.
AC A0A2U3X9A1;
DT 18-JUL-2018, integrated into UniProtKB/TrEMBL.
DT 18-JUL-2018, sequence version 1.
DT 27-MAR-2024, entry version 22.
DE SubName: Full=Dysferlin isoform X20 {ECO:0000313|RefSeq:XP_006728064.1};
GN Name=DYSF {ECO:0000313|RefSeq:XP_006728064.1};
OS Leptonychotes weddellii (Weddell seal) (Otaria weddellii).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Carnivora; Caniformia; Pinnipedia; Phocidae;
OC Leptonychotes.
OX NCBI_TaxID=9713 {ECO:0000313|Proteomes:UP000245341, ECO:0000313|RefSeq:XP_006728064.1};
RN [1] {ECO:0000313|RefSeq:XP_006728064.1}
RP IDENTIFICATION.
RC TISSUE=Liver {ECO:0000313|RefSeq:XP_006728064.1};
RG RefSeq;
RL Submitted (NOV-2023) to UniProtKB.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane
CC {ECO:0000256|ARBA:ARBA00004483}; Single-pass type II membrane protein
CC {ECO:0000256|ARBA:ARBA00004483}. Membrane
CC {ECO:0000256|ARBA:ARBA00004606}; Single-pass type II membrane protein
CC {ECO:0000256|ARBA:ARBA00004606}.
CC -!- SIMILARITY: Belongs to the ferlin family.
CC {ECO:0000256|ARBA:ARBA00007561}.
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DR RefSeq; XP_006728064.1; XM_006728001.1.
DR GeneID; 102732029; -.
DR CTD; 8291; -.
DR OrthoDB; 991411at2759; -.
DR Proteomes; UP000245341; Unplaced.
DR GO; GO:0030659; C:cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma 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; IPR012560; Ferlin_A-domain.
DR InterPro; IPR012561; Ferlin_B-domain.
DR InterPro; IPR032362; Ferlin_C.
DR InterPro; IPR006614; Peroxin/Ferlin.
DR PANTHER; PTHR12546; FER-1-LIKE; 1.
DR PANTHER; PTHR12546:SF33; SPERM VESICLE FUSION PROTEIN FER-1; 1.
DR Pfam; PF00168; C2; 7.
DR Pfam; PF08165; FerA; 1.
DR Pfam; PF08150; FerB; 1.
DR Pfam; PF08151; FerI; 1.
DR Pfam; PF16165; Ferlin_C; 1.
DR SMART; SM00239; C2; 7.
DR SMART; SM00694; DysFC; 2.
DR SMART; SM00693; DysFN; 2.
DR SMART; SM01200; FerA; 1.
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 3: Inferred from homology;
KW Calcium {ECO:0000256|ARBA:ARBA00022837};
KW Cell membrane {ECO:0000256|ARBA:ARBA00022475};
KW Cytoplasmic vesicle {ECO:0000256|ARBA:ARBA00023329};
KW Membrane {ECO:0000256|ARBA:ARBA00023136, ECO:0000256|SAM:Phobius};
KW Metal-binding {ECO:0000256|ARBA:ARBA00022723};
KW Phosphoprotein {ECO:0000256|ARBA:ARBA00022553};
KW Reference proteome {ECO:0000313|Proteomes:UP000245341};
KW Repeat {ECO:0000256|ARBA:ARBA00022737};
KW Signal-anchor {ECO:0000256|ARBA:ARBA00022968};
KW Transmembrane {ECO:0000256|ARBA:ARBA00022692, ECO:0000256|SAM:Phobius};
KW Transmembrane helix {ECO:0000256|ARBA:ARBA00022989,
KW ECO:0000256|SAM:Phobius}.
FT TRANSMEM 2049..2070
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT DOMAIN 1..102
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 206..324
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 363..499
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1139..1265
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1313..1441
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1564..1682
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1798..1946
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT REGION 135..218
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1998..2019
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 153..169
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 185..199
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 2083 AA; 236963 MW; 6E014A5597135CE0 CRC64;
MLCCLLVRAS SLPSVKKDRR SDPVASLTFR GVKKRTKVIK NSVNPVWNEG FEWDLKGIPL
DQSSELHVVV KDHETMGRNR FLGEAQVPLR EVLATPSLSA SFNAPLLDTK KQPTGASLVL
QVSYTPLPGA VPLFPPSASL EPSPTLPDVD MVADTGGEED TEDQGLTGDE AEPLLDQSGA
PGPGAPTTPR KPPSHPPPYH PGSKRKRSAP TARKLLSDKP QDFQIRVQVI EGRQLPGVNI
KPVVKVTAAG QTKRTRIHKG NSPLFNETLF FNVFDSPSEL FDEPIFITVV DSRSLRTDAL
IGEFRMDVGT IYREPRHAYL RKWLLLSDLD DFSAGARGYL KASLCVLGPG DEAPLERKDP
SEDKEDIENN LLRPTGVALR GAHFCLKVFR AEDLPQMDDA VMDNVKQIFG FDSNKKNLVD
PFMEVSFAGK MLCSKILEKT ANPQWNQSIT LPAMFPSMCE KMRIRIMDWD RLTHNDIVAT
THLSMSKISA PGGEIEEEPA GVAKPSPAMD LDDHLGFLPT FGPCYVNLYG SPREFTGFPD
PYAELNTGKG EGVAYRGRLL LSLETKLVEH SEQKVEDLPA DDILRVEKYL RRRKYSLFAA
FYSASMLQDV DDAIQFEVSI GNYGNKFDTT CLPLASTTQY SRAVFDGCHY YYLPWGNVKP
VVVLSSYWED ISHRVEAQNQ LLRIADRLEA GLEQVHLAMK AQCSPEDVDS LVAQLMDELI
SDCSQPLGNV REIPSATHLD QYLYGLRSRH LSQITEAALA LKLGHSGLPA ALEQAEDWLL
RLRALAEEPQ NSLPDIIIWM LQGDKRVAYQ RLPAQEVLFS RRGTSYCGKN CGKLQTIFLK
YPMEGVPGAR MPVQLRVKLW FGLSVDEKEF NQFAEGKLSV FAETYENQTK LALVGNWGTT
GLTYPKFSDV TGKIKLPKDS FRPSAGWTWA GDWFVCPEKT LLHDTDAGHL SFVEEVFENQ
TRLPGGQWIY MSDNYTDVNG EKVLPKDDIE CPLGWKWEDE EWSTDLNRAV DEQGWEYSIT
IPPDRKPKHW VPAEKMYYTH RRRRWVRLRG RDLSQMEALK RHRQAEAEGE GWEYASLFGW
KFHLEYRKTD AFRRRCWRRR MEPLEKTGPA AVFALEGALG GVVDDRSEDS MSVSTLNFGV
NRPTISCIFD YGNRYHLRCY MYQARDLPSM DKDSFSDPYA IVSFLHQSQK TAVVKNTLNP
TWDQTLIFYE IEIFGEPASV AERPPSIVVE LYDHDTYGAD EFMGRCMCQP SLERMPRLAW
FPLVRGNQPA GELLASFELI QREKPAIHHI PGFEVQDTSG ILDESEDTDL PYPPPQREAN
VYMVPQNIKP VLQRTAIEIL AWGLRNMKSY QLASISSPSL VVECGGQTVQ SCVIKNLRKN
PNFDICTLFM EVMLPREDLY CPPIVIKVID NRQFGRRPMV GQCTIRSLER FMCDLYSEES
PSPQGGPDDV SLLSPGEDVL IDIDDKEPLI PVQEEEFIDW WSKFFASTGE REKCGSYLEK
GFDTLKVYDT QLENVEAFEG LSDFCNTFKL YRGKTQEETE DPSVIGEFKG LFKIYPLPED
PAVPMPPRQF HQLAAQGPQE CLVRIYIIQA FGLQPKDPNG KCDPYIKISI GKKSVSDQDN
YIPCTLEPVF GKMFELTCTL PLEKDLKITL YDYDLLSKDE KIGETVIDLE NRLLSKFGAR
CGLPQTYCVS GPNQWRDQLR PSQLLHLFCQ QRRLKAPVYL TGRVLFQDKE YTIEEIEAAS
VLNPHLGPVE ERLALHVLRQ LGLVPEHVES RPLYSPLQPD IEQGKLQMWI DLFPKALGRP
GPPFNITPRR ARRFFLRGII WNTKDVILDD LSITGEKMSD IYVKGWMVGF EEHKQKTDVH
YRSLGGEGNF NWRFIFPFDY LPAEQVCTVS KKDAFWRLDK TESKIPARVV FQIWDNDKFS
FDDFLGSLQL DLNRMPKPAK TAEKCSLDQL DDTLHPEWFV SLFEQKTMKG WWPCMAEEGE
KKILAGKLEM TLEIVAESEH EERPAGQGRD EPNMNPKLED PRRPDTSFLW FTSPYKTVKF
ILWRRFRCVI ILFIILFILL LFLGIFLYSF PNYAAMKLVK PFS
//
