ID   E5KVZ4_HUMAN            Unreviewed;       632 AA.
AC   E5KVZ4;
DT   08-FEB-2011, integrated into UniProtKB/TrEMBL.
DT   08-FEB-2011, sequence version 1.
DT   22-FEB-2023, entry version 45.
DE   SubName: Full=Minidysferlin {ECO:0000313|EMBL:ADQ57464.1};
GN   Name=DYSF {ECO:0000313|EMBL:ADQ57464.1};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606 {ECO:0000313|EMBL:ADQ57464.1};
RN   [1] {ECO:0000313|EMBL:ADQ57464.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=20861509;
RA   Krahn M., Wein N., Bartoli M., Lostal W., Courrier S., Bourg-Alibert N.,
RA   Nguyen K., Vial C., Streichenberger N., Labelle V., DePetris D.,
RA   Pecheux C., Leturcq F., Cau P., Richard I., Levy N.;
RT   "A naturally occurring human minidysferlin protein repairs sarcolemmal
RT   lesions in a mouse model of dysferlinopathy.";
RL   Sci. Transl. Med. 2:50RA69-50RA69(2010).
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DR   EMBL; HQ222984; ADQ57464.1; -; Genomic_DNA.
DR   AlphaFoldDB; E5KVZ4; -.
DR   PeptideAtlas; E5KVZ4; -.
DR   ChiTaRS; DYSF; human.
DR   GO; GO:0016020; C:membrane; IEA:UniProtKB-KW.
DR   CDD; cd04037; C2E_Ferlin; 1.
DR   CDD; cd08374; C2F_Ferlin; 1.
DR   Gene3D; 2.60.40.150; C2 domain; 2.
DR   InterPro; IPR000008; C2_dom.
DR   InterPro; IPR035892; C2_domain_sf.
DR   InterPro; IPR037724; C2E_Ferlin.
DR   InterPro; IPR037725; C2F_Ferlin.
DR   InterPro; IPR037721; Ferlin.
DR   InterPro; IPR032362; Ferlin_C.
DR   PANTHER; PTHR12546:SF44; DYSFERLIN; 1.
DR   PANTHER; PTHR12546; FER-1-LIKE; 1.
DR   Pfam; PF00168; C2; 2.
DR   Pfam; PF16165; Ferlin_C; 1.
DR   SMART; SM00239; C2; 2.
DR   SUPFAM; SSF49562; C2 domain (Calcium/lipid-binding domain, CaLB); 2.
DR   PROSITE; PS50004; C2; 2.
PE   4: Predicted;
KW   Membrane {ECO:0000256|SAM:Phobius};
KW   Transmembrane {ECO:0000256|SAM:Phobius};
KW   Transmembrane helix {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM        597..619
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|SAM:Phobius"
FT   DOMAIN          113..231
FT                   /note="C2"
FT                   /evidence="ECO:0000259|PROSITE:PS50004"
FT   DOMAIN          347..495
FT                   /note="C2"
FT                   /evidence="ECO:0000259|PROSITE:PS50004"
FT   REGION          547..569
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   632 AA;  73521 MW;  AAB641854498B8D1 CRC64;
     MPRTSTHPTP TSAMPTAPRC LQEEEFIDWW SKFFASIGER EKCGSYLEKD FDTLKVYDTQ
     LENVEAFEGL SDFCNTFKLY RGKTQEETED PSVIGEFKGL FKIYPLPEDP AIPMPPRQFH
     QLAAQGPQEC LVRIYIVRAF GLQPKDPNGK CDPYIKISIG KKSVSDQDNY IPCTLEPVFG
     KMFELTCTLP LEKDLKITLY DYDLLSKDEK IGETVVDLEN RLLSKFGARC GLPQTYCVSG
     PNQWRDQLRP SQLLHLFCQQ HRVKAPVYRT DRVMFQDKEY SIEEIEAGRI PNPHLGPVEE
     RLALHVLQQQ GLVPEHVESR PLYSPLQPDI EQGKLQMWVD LFPKALGRPG PPFNITPRRA
     RRFFLRCIIW NTRDVILDDL SLTGEKMSDI YVKGWMIGFE EHKQKTDVHY RSLGGEGNFN
     WRFIFPFDYL PAEQVCTIAK KDAFWRLDKT ESKIPARVVF QIWDNDKFSF DDFLGSLQLD
     LNRMPKPAKT AKKCSLDQLD DAFHPEWFVS LFEQKTVKGW WPCVAEEGEK KILAGKLEMT
     LEIVAESEHE ERPAGQGRDE PNMNPKLEDP RRPDTSFLWF TSPYKTMKFI LWRRFRWAII
     LFIILFILLL FLAIFIYAFP NYAAMKLVKP FS
//