ID A0A2Y9EYJ1_PHYMC Unreviewed; 2083 AA.
AC A0A2Y9EYJ1;
DT 12-SEP-2018, integrated into UniProtKB/TrEMBL.
DT 12-SEP-2018, sequence version 1.
DT 27-MAR-2024, entry version 21.
DE SubName: Full=Dysferlin isoform X20 {ECO:0000313|RefSeq:XP_007111239.2};
GN Name=DYSF {ECO:0000313|RefSeq:XP_007111239.2};
OS Physeter macrocephalus (Sperm whale) (Physeter catodon).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Artiodactyla; Whippomorpha; Cetacea; Odontoceti;
OC Physeteridae; Physeter.
OX NCBI_TaxID=9755 {ECO:0000313|Proteomes:UP000248484, ECO:0000313|RefSeq:XP_007111239.2};
RN [1] {ECO:0000313|RefSeq:XP_007111239.2}
RP IDENTIFICATION.
RC TISSUE=Muscle {ECO:0000313|RefSeq:XP_007111239.2};
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_007111239.2; XM_007111177.4.
DR Proteomes; UP000248484; Chromosome 12.
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:SF44; DYSFERLIN; 1.
DR PANTHER; PTHR12546; FER-1-LIKE; 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:UP000248484};
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 130..223
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1998..2020
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; 237295 MW; 6AF45DBA6A4E848C CRC64;
MLSCQLVRAS NLPSVKKDRR SDPVASLTFR GVKKRTKVIK NNVNPVWNEG FEWDLKGVPL
DQGSELHVVV KDHETMGRNR FLGEANVPLR EVLATPSLSA SFNAPLLDTK KQPTGASLVL
QVSYTPLPGT MPTFPPSTPL EPSPTLPDMD MVADTGGEED TEDQGLTGDE AEPFLDQSGA
PGPGAPMTPK KPPSHPPPYH PGGRRKRSTP APRKPLSDKS QDFQIRVQVI EGRQLPGVNI
KPVVKVTAAG QTKRTRIHKG NSPLFNETLF FNVFDSPAEL FDEPIFITVV DSCSLRTDAL
IGEFRMDVGS IYREPRHAYL RKWLLLSDLD DFSAGARGYL KVSLCVLGPG DEAPLERKDP
SEDKEDIEGN LLRPTGVALR GAHFCLKVFR AEDLPQMDDA VMDNVKQIFG FESNKKNLVD
PFMEVSFAGK MLCSKILEKT ANPQWNQSIT VPAMFPSMCE KMRIRVIDWD RLTHNDIVAT
TYLSMSKISA SGGEIEEEPA GVVTSPPATD LDDHLGFLPT FGPCYVNLYG SPREFTGFPD
PYAELNTGKG EGVAYRGRLL LSLETKLVEH SEQKVEDLPA DDILRVEKYL RRRKYSLFAA
FYSATMLQDV DDAVQFEVSI GNYGNKFDTT CLPLASTTQY SRAVFDGCHY YYLPWGNVKP
VVVLSSYWED ISHRIEAQNQ LLRIADRLEA GLEQVHLALK AQRSAEDVDS LVAQLMDELI
AGCSQPLGNI QETPSATHLD HYLYRLRTRH LSQITEAAQA LKLGHSELPT ALEQAEDWLL
RLRALADEPQ NSLPDIVIWM LQGDKRVAYQ RVPAHEVLFS RRGTGYCGKN CGKLQTMFLK
YPMEGVPGAR MPVQIRVRLW FGLSVDEKEF NQFAEGKLSV FAETYENQTK LALVGNWGTT
GLTYPKFSDV TGKIKLPKES FRPSAGWAWA GDWFVCPEKT LLHDTDAGHL SFVEEVFENQ
TRLPGGQWIY MSDNYTDVNG EKVLPKDDIE CPLGWKWEDE EWSTDLNRAV DEQGWEYSIT
IPPDRKPRHW VPAEKMYYTH RRRRWVRLRR RDLSQMEALK RHRQAEAEGE GWEYASLFGW
KFHLEYRKTD AFRRRRWRRR MEPLEKTGPA AVFALEGALG GVVDDRSEDS KSVSTLSFGV
NTPTISCIFD YGNRYHLRCY MYQARDLPAM DKDSFSDPYA IVSFLHQSQK TVVVKNTLNP
TWDQTLIFYE IEIFGELASI AEQPASIVVE LYDHDTYGAD EFMGRCICQP SLERMPRLAW
FPLTRGNQPA GELLASFELI QREKPAIHHI PGFEVQDTSG ILEESEDTDL PYPPPQREAN
IYMVPQNIKP VLQRTAIEIL AWGLRNMKSY QLASVSSPSL VVECGGQTVQ SCVIKNLRKN
PNFDICTLFM EVMLPREELY CPPIVIKVID NRQFGRRPVV GQCTIRSLES FLCDPYSEES
PSPQGGPDDV SLLSPGEDVL IDIDDKEPLI PIQEEEFIDW WSKFFASIGE REKCGSYLEK
DFDTLKVYDT PLENVKDFEG LSDFCNTFKL YRGKTQEEME DPSVIGEFKG LFKIYPLPED
PAIPIPPRQF HQLASQGPQE CLVRIYVIRA FGLQPKDPNG KCDPYIRISI GKKSVSDQDN
YIPCTLEPVF GKMFELTCTL PLEKDLKVTL YDYDLLSKDE KIGETVIDLE NRLLSKFGAR
CGLPQTYCVS GPNQWRDQLH PSQLLHLFCQ QHRVKAPVYR TDRVVFQDKE YTIEEIEAGR
VPNPHLGPVE ERLALHVLQQ QGLVPEHVES RPLYSPLQPD IEQGKLQMWI DLFPKALGRP
GPPFNITPRR ARRFFLRCVI WNTKDVILDD LSITGEKMSD IYVKGWMVGF EEHKQKTDVH
YRSLGGEGNF NWRFIFPFDY LPAEQVCTVS KKDAFWRLDK TESKIPARVL FQIWDNDKFS
FDDFLGSLQL DLNRMPKPAK TAEKCSLDQL DDTFHPEWFV SLFEQKTVKG WWPCVADEGE
KKILAGKLEM TLEIVAESEH EERPAGQGRD EPNMNPKLED PRRPDTSFLW FTSPYKTMKF
ILWRRFRCAI ILFIILFILL LFLGIFVYSF PNYTAMKLVK PFS
//
