ID B7Z2R1_HUMAN Unreviewed; 961 AA. AC B7Z2R1; DT 03-MAR-2009, integrated into UniProtKB/TrEMBL. DT 03-MAR-2009, sequence version 1. DT 24-JUL-2024, entry version 74. 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|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 (APR-2024) to UniProtKB. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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|PeptideAtlas:B7Z2R1, KW ECO:0007829|ProteomicsDB: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 //