ID   B7Z2R1_HUMAN            Unreviewed;       961 AA.
AC   B7Z2R1;
DT   03-MAR-2009, integrated into UniProtKB/TrEMBL.
DT   03-MAR-2009, sequence version 1.
DT   27-MAR-2024, entry version 72.
DE   SubName: Full=Dysferlin {ECO:0000313|EMBL:BAH11947.1, ECO:0000313|Ensembl:ENSP00000513540.1};
GN   Name=DYSF {ECO:0000313|Ensembl:ENSP00000513540.1};
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:BAH11947.1};
RN   [1] {ECO:0000313|Ensembl:ENSP00000513540.1, ECO:0000313|Proteomes:UP000005640}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA   Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA   Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA   Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA   Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA   Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA   Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA   Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA   Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA   Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA   Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA   Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA   Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA   Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA   Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA   Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT   4.";
RL   Nature 434:724-731(2005).
RN   [2] {ECO:0000313|EMBL:BAH11947.1}
RP   NUCLEOTIDE SEQUENCE.
RC   TISSUE=Brain {ECO:0000313|EMBL:BAH11947.1};
RA   Wakamatsu A., Yamamoto J., Kimura K., Ishii S., Watanabe K., Sugiyama A.,
RA   Murakawa K., Kaida T., Tsuchiya K., Fukuzumi Y., Kumagai A., Oishi Y.,
RA   Yamamoto S., Ono Y., Komori Y., Yamazaki M., Kisu Y., Nishikawa T.,
RA   Sugano S., Nomura N., Isogai T.;
RT   "NEDO human cDNA sequencing project focused on splicing variants.";
RL   Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases.
RN   [3] {ECO:0000313|Ensembl:ENSP00000513540.1}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (NOV-2023) to UniProtKB.
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DR   EMBL; AC010147; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC104084; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AK295004; BAH11947.1; -; mRNA.
DR   Ensembl; ENST00000479049.6; ENSP00000513540.1; ENSG00000135636.16.
DR   HGNC; HGNC:3097; DYSF.
DR   GeneTree; ENSGT00940000156187; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   GO; GO:0034451; C:centriolar satellite; IDA:HPA.
DR   GO; GO:0005886; C:plasma membrane; IDA:HPA.
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; 3.
DR   InterPro; IPR000008; C2_dom.
DR   InterPro; IPR035892; C2_domain_sf.
DR   InterPro; IPR037723; C2D_Ferlin.
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; 4.
DR   Pfam; PF16165; Ferlin_C; 1.
DR   SMART; SM00239; C2; 4.
DR   SUPFAM; SSF49562; C2 domain (Calcium/lipid-binding domain, CaLB); 4.
DR   PROSITE; PS50004; C2; 4.
PE   1: Evidence at protein level;
KW   Membrane {ECO:0000256|SAM:Phobius};
KW   Proteomics identification {ECO:0007829|EPD:B7Z2R1,
KW   ECO:0007829|MaxQB:B7Z2R1};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Transmembrane {ECO:0000256|SAM:Phobius};
KW   Transmembrane helix {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM        926..948
FT                   /note="Helical"
FT                   /evidence="ECO:0000256|SAM:Phobius"
FT   DOMAIN          17..143
FT                   /note="C2"
FT                   /evidence="ECO:0000259|PROSITE:PS50004"
FT   DOMAIN          191..319
FT                   /note="C2"
FT                   /evidence="ECO:0000259|PROSITE:PS50004"
FT   DOMAIN          442..560
FT                   /note="C2"
FT                   /evidence="ECO:0000259|PROSITE:PS50004"
FT   DOMAIN          676..824
FT                   /note="C2"
FT                   /evidence="ECO:0000259|PROSITE:PS50004"
FT   REGION          876..898
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   961 AA;  110847 MW;  E04948F52DD9DCB5 CRC64;
     MDDKSEDSMS VSTLSFGVNR PTISCIFDYG NRYHLRCYMY QARDLAAMDK DSFSDPYAIV
     SFLHQSQKTV VVKNTLNPTW DQTLIFYEIE IFGEPATVAE QPPSIVVELY DHDTYGADEF
     MGRCICQPSL ERMPRLAWFP LTRGSQPSGE LLASFELIQR EKPAIHHIPG FEVQETSRIL
     DESEDTDLPY PPPQREANIY MVPQNIKPAL QRTAIEILAW GLRNMKSYQL ANISSPSLVV
     ECGGQTVQSC VIRNLRKNPN FDICTLFMEV MLPREELYCP PITVKVIDNR QFGRRPVVGQ
     CTIRSLESFL CDPYSAESPS PQGGPDDVSL LSPGEDVLID IDDKEPLIPI QEEEFIDWWS
     KFFASIGERE KCGSYLEKDF DTLKVYDTQL ENVEAFEGLS DFCNTFKLYR GKTQEETEDP
     SVIGEFKGLF KIYPLPEDPA IPMPPRQFHQ LAAQGPQECL VRIYIVRAFG LQPKDPNGKC
     DPYIKISIGK KSVSDQDNYI PCTLEPVFGK MFELTCTLPL EKDLKITLYD YDLLSKDEKI
     GETVVDLENR LLSKFGARCG LPQTYCVSGP NQWRDQLRPS QLLHLFCQQH RVKAPVYRTD
     RVMFQDKEYS IEEIEAGRIP NPHLGPVEER LALHVLQQQG LVPEHVESRP LYSPLQPDIE
     QGKLQMWVDL FPKALGRPGP PFNITPRRAR RFFLRCIIWN TRDVILDDLS LTGEKMSDIY
     VKGWMIGFEE HKQKTDVHYR SLGGEGNFNW RFIFPFDYLP AEQVCTIAKK DAFWRLDKTE
     SKIPARVVFQ IWDNDKFSFD DFLGSLQLDL NRMPKPAKTA KKCSLDQLDD AFHPEWFVSL
     FEQKTVKGWW PCVAEEGEKK ILAGKLEMTL EIVAESEHEE RPAGQGRDEP NMNPKLEDPR
     RPDTSFLWFT SPYKTMKFIL WRRFRWAIIL FIILFILLLF LAIFIYAFPN YAAMKLVKPF
     S
//