ID A0A2Y9F006_PHYMC Unreviewed; 2128 AA.
AC A0A2Y9F006;
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 X5 {ECO:0000313|RefSeq:XP_007111225.2};
GN Name=DYSF {ECO:0000313|RefSeq:XP_007111225.2};
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_007111225.2};
RN [1] {ECO:0000313|RefSeq:XP_007111225.2}
RP IDENTIFICATION.
RC TISSUE=Muscle {ECO:0000313|RefSeq:XP_007111225.2};
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_007111225.2; XM_007111163.4.
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; 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: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 2094..2115
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT DOMAIN 1..102
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 237..355
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 394..530
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1170..1296
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1358..1486
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1609..1727
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1843..1991
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT REGION 177..254
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2043..2065
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 216..230
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 2128 AA; 242088 MW; 32C90E4AB7532ABC CRC64;
MLSCQLVRAS NLPSVKKDRR SDPVASLTFR GVKKRTKVIK NNVNPVWNEG FEWDLKGVPL
DQGSELHVVV KDHETMGRNR FLGEANVPLR EVLATPSLSA SFNAPLLDTK KQPTGASLVL
QVSYTPLPGT MPTFPPSTPL EPSPTLPDMD MVAGGGQSRA ETWSLLSDST VDTRYSGKKW
LAPTDTGGEE DTEDQGLTGD EAEPFLDQSG APGPGAPMTP KKPPSHPPPY HPGGRRKRST
PAPRKPLSDK SQDFQIRVQV IEGRQLPGVN IKPVVKVTAA GQTKRTRIHK GNSPLFNETL
FFNVFDSPAE LFDEPIFITV VDSCSLRTDA LIGEFRMDVG SIYREPRHAY LRKWLLLSDL
DDFSAGARGY LKVSLCVLGP GDEAPLERKD PSEDKEDIEG NLLRPTGVAL RGAHFCLKVF
RAEDLPQMDD AVMDNVKQIF GFESNKKNLV DPFMEVSFAG KMLCSKILEK TANPQWNQSI
TVPAMFPSMC EKMRIRVIDW DRLTHNDIVA TTYLSMSKIS ASGGEIEEEP AGVVTSPPAT
DLDDHLGFLP TFGPCYVNLY GSPREFTGFP DPYAELNTGK GEGVAYRGRL LLSLETKLVE
HSEQKVEDLP ADDILRVEKY LRRRKYSLFA AFYSATMLQD VDDAVQFEVS IGNYGNKFDT
TCLPLASTTQ YSRAVFDGCH YYYLPWGNVK PVVVLSSYWE DISHRIEAQN QLLRIADRLE
AGLEQVHLAL KAQRSAEDVD SLVAQLMDEL IAGCSQPLGN IQETPSATHL DHYLYRLRTR
HLSQITEAAQ ALKLGHSELP TALEQAEDWL LRLRALADEP QNSLPDIVIW MLQGDKRVAY
QRVPAHEVLF SRRGTGYCGK NCGKLQTMFL KYPMEGVPGA RMPVQIRVRL WFGLSVDEKE
FNQFAEGKLS VFAETYENQT KLALVGNWGT TGLTYPKFSD VTGKIKLPKE SFRPSAGWAW
AGDWFVCPEK TLLHDTDAGH LSFVEEVFEN QTRLPGGQWI YMSDNYTDVN GEKVLPKDDI
ECPLGWKWED EEWSTDLNRA VDEQGWEYSI TIPPDRKPRH WVPAEKMYYT HRRRRWVRLR
RRDLSQMEAL KRHRQAEAEG EGWEYASLFG WKFHLEYRKT DAFRRRRWRR RMEPLEKTGP
AAVFALEGAL GGVVDDRSED SKSVSTLSFG VNTPTISCIF DYGNRYHLRC YMYQARDLPA
MDKDSFSDPY AIVSFLHQSQ KTVVVKNTLN PTWDQTLIFY EIEIFGELAS IAEQPASIVV
ELYDHDTYGA DEFMGRCICQ PSLERMPRLA WFPLTRGNQP AGELLASFEL IQREKPAIHH
IPGFEVQDTS GILEELCAPA VFLQGLLQTS EDTDLPYPPP QREANIYMVP QNIKPVLQRT
AIEILAWGLR NMKSYQLASV SSPSLVVECG GQTVQSCVIK NLRKNPNFDI CTLFMEVMLP
REELYCPPIV IKVIDNRQFG RRPVVGQCTI RSLESFLCDP YSEESPSPQG GPDDVSLLSP
GEDVLIDIDD KEPLIPIQEE EFIDWWSKFF ASIGEREKCG SYLEKDFDTL KVYDTPLENV
KDFEGLSDFC NTFKLYRGKT QEEMEDPSVI GEFKGLFKIY PLPEDPAIPI PPRQFHQLAS
QGPQECLVRI YVIRAFGLQP KDPNGKCDPY IRISIGKKSV SDQDNYIPCT LEPVFGKMFE
LTCTLPLEKD LKVTLYDYDL LSKDEKIGET VIDLENRLLS KFGARCGLPQ TYCVSGPNQW
RDQLHPSQLL HLFCQQHRVK APVYRTDRVV FQDKEYTIEE IEAGRVPNPH LGPVEERLAL
HVLQQQGLVP EHVESRPLYS PLQPDIEQGK LQMWIDLFPK ALGRPGPPFN ITPRRARRFF
LRCVIWNTKD VILDDLSITG EKMSDIYVKG WMVGFEEHKQ KTDVHYRSLG GEGNFNWRFI
FPFDYLPAEQ VCTVSKKDAF WRLDKTESKI PARVLFQIWD NDKFSFDDFL GSLQLDLNRM
PKPAKTAEKC SLDQLDDTFH PEWFVSLFEQ KTVKGWWPCV ADEGEKKILA GKLEMTLEIV
AESEHEERPA GQGRDEPNMN PKLEDPRRPD TSFLWFTSPY KTMKFILWRR FRCAIILFII
LFILLLFLGI FVYSFPNYTA MKLVKPFS
//
