ID A0A0N4SV63_MOUSE Unreviewed; 2120 AA. AC A0A0N4SV63; DT 09-DEC-2015, integrated into UniProtKB/TrEMBL. DT 09-DEC-2015, sequence version 1. DT 29-MAY-2024, entry version 50. DE SubName: Full=Dysferlin {ECO:0000313|Ensembl:ENSMUSP00000144970.2}; GN Name=Dysf {ECO:0000313|Ensembl:ENSMUSP00000144970.2, GN ECO:0000313|MGI:MGI:1349385}; OS Mus musculus (Mouse). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; OC Murinae; Mus; Mus. OX NCBI_TaxID=10090 {ECO:0000313|Ensembl:ENSMUSP00000144970.2, ECO:0000313|Proteomes:UP000000589}; RN [1] {ECO:0000313|Ensembl:ENSMUSP00000144970.2, ECO:0000313|Proteomes:UP000000589} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RC STRAIN=C57BL/6J {ECO:0000313|Ensembl:ENSMUSP00000144970.2, RC ECO:0000313|Proteomes:UP000000589}; RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112; RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S., RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., RA Eichler E.E., Ponting C.P.; RT "Lineage-specific biology revealed by a finished genome assembly of the RT mouse."; RL PLoS Biol. 7:E1000112-E1000112(2009). RN [2] {ECO:0007829|PubMed:21183079} RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001; RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R., RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.; RT "A tissue-specific atlas of mouse protein phosphorylation and expression."; RL Cell 143:1174-1189(2010). RN [3] {ECO:0000313|Ensembl:ENSMUSP00000144970.2} RP IDENTIFICATION. RC STRAIN=C57BL/6J {ECO:0000313|Ensembl:ENSMUSP00000144970.2}; RG Ensembl; RL Submitted (FEB-2024) 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}. 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 RefSeq; XP_006506234.1; XM_006506171.3. DR SMR; A0A0N4SV63; -. DR jPOST; A0A0N4SV63; -. DR ProteomicsDB; 324643; -. DR Antibodypedia; 2461; 360 antibodies from 35 providers. DR DNASU; 26903; -. DR Ensembl; ENSMUST00000204591.3; ENSMUSP00000144970.2; ENSMUSG00000033788.16. DR GeneID; 26903; -. DR AGR; MGI:1349385; -. DR CTD; 8291; -. DR MGI; MGI:1349385; Dysf. DR VEuPathDB; HostDB:ENSMUSG00000033788; -. DR GeneTree; ENSGT00940000156187; -. DR OMA; DAYCSVT; -. DR BioGRID-ORCS; 26903; 2 hits in 77 CRISPR screens. DR ChiTaRS; Dysf; mouse. DR Proteomes; UP000000589; Chromosome 6. DR Bgee; ENSMUSG00000033788; Expressed in hindlimb stylopod muscle and 156 other cell types or tissues. DR ExpressionAtlas; A0A0N4SV63; baseline and differential. DR GO; GO:0034451; C:centriolar satellite; IEA:Ensembl. DR GO; GO:0030659; C:cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell. DR GO; GO:0005769; C:early endosome; IEA:Ensembl. DR GO; GO:0030139; C:endocytic vesicle; IEA:Ensembl. DR GO; GO:0005770; C:late endosome; IEA:Ensembl. DR GO; GO:0030315; C:T-tubule; IEA:Ensembl. DR GO; GO:0005509; F:calcium ion binding; IEA:Ensembl. DR GO; GO:0005544; F:calcium-dependent phospholipid binding; IEA:Ensembl. DR GO; GO:0002281; P:macrophage activation involved in immune response; IEA:Ensembl. DR GO; GO:0002280; P:monocyte activation involved in immune response; IEA:Ensembl. DR GO; GO:0050765; P:negative regulation of phagocytosis; IEA:Ensembl. DR GO; GO:0001778; P:plasma membrane repair; IEA:TreeGrafter. DR GO; GO:0033292; P:T-tubule organization; IEA:TreeGrafter. DR GO; GO:0006906; P:vesicle fusion; IEA:TreeGrafter. 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 1: Evidence at protein level; 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 Proteomics identification {ECO:0007829|MaxQB:A0A0N4SV63, KW ECO:0007829|PeptideAtlas:A0A0N4SV63}; KW Reference proteome {ECO:0000313|Proteomes:UP000000589}; 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 2086..2107 FT /note="Helical" FT /evidence="ECO:0000256|SAM:Phobius" FT DOMAIN 1..101 FT /note="C2" FT /evidence="ECO:0000259|PROSITE:PS50004" FT DOMAIN 237..354 FT /note="C2" FT /evidence="ECO:0000259|PROSITE:PS50004" FT DOMAIN 393..529 FT /note="C2" FT /evidence="ECO:0000259|PROSITE:PS50004" FT DOMAIN 1155..1281 FT /note="C2" FT /evidence="ECO:0000259|PROSITE:PS50004" FT DOMAIN 1329..1457 FT /note="C2" FT /evidence="ECO:0000259|PROSITE:PS50004" FT DOMAIN 1601..1719 FT /note="C2" FT /evidence="ECO:0000259|PROSITE:PS50004" FT DOMAIN 1835..1983 FT /note="C2" FT /evidence="ECO:0000259|PROSITE:PS50004" FT REGION 171..250 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 2035..2057 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" SQ SEQUENCE 2120 AA; 241194 MW; 9F2ACD74CDF3C7C0 CRC64; MLRVFILFAE NVHTPDSDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGF EWDLKGIPLD QSSELLVVVK DHETMGRNRF LGEAKIPLQE VLATPSLSAS FNAPLLDAKQ QPTGASLVLQ VSYTPPPGAV PLFPPPASLA PSPTLPDMDL VPGGGQSRAE TWSLLSDSTM DTRYSGKKWP VPTDTGGEED TEDQGLTGDE AEPFLDQSAA VGPGGPTTPR KPPSHPPPHY PGAKRKRSSA PPRKLLSDKP QDFQIRVQVI EGRQLPGVNI KPVVKVTAAG QTKRTRIQKG NSPLFNETLF FNVFDSPLEL FDEPIFITVV DSRSLRTDAL LGEFRMDVGT VYREPRHAYL RKWLLLSDPD DFSAGARGYL KASLCVLGPG DEAPLDKKDP SEDKEDIEGN LLRPTGVALR GAHFCLKLFR AEDLPQMDDA VMDNVKQIFG FDSNKKNLVD PFVEVSFAGK MLCSKILEKT ANPQWNQNIT LPAMFPSMCE KMRIRVMDWD RLTHNDTVAT TYLGMSKISA TGGEIEVDDN LGFLPTFGPC YVNLYGSPRE FTGFPDPYAE LNTGKGEGVA YRGRVLLSLE TKLVEHSEQK VEDLPADDIL RVEKYLRRRK YSLFAAFYSA TMLQDVDDAI QFEVSIGNYG NKFDTTCLPL ASTTQYSRAV FDGCHYYYLP WGNVKPVVVL SSYWEDISHR IEIQNQLLRV ADRLEANLEQ VHLALKAQCS SEDVDALVAQ LTDELLADCS QPLCDIHEIP SATHLDQYLL RLRTRHLSQI KEAALALKLG HSELSTALEQ AEDWLLHLRA LAEEPQNSLP DIIIWMLQGD KRVAYQRVPA HEVLFSRRGP SYCGRNCGKL QTIFLKYPME GMPGARMPVQ IRIKLWFGLS VDEKEFNQFA EGKLSVFAET YENQTKLALV GNWGTTGLTY PKFSDVTGKI KLPKDSFRPS AGWAWAGDWF VCPEKTLLHD ADAGHLSFVE EVFENQTRLP GGQWIYMSDN YTDVNGEKVL PKDDIECPLG WKWEDEEWST DLNRAVDEQG WEYSITIPPD RKPKHWVPVE KMYYTHRRRR WVRLRRRDLS QMEALKRHRQ AEAEGEGWEY ASLFGWKFHL EYRKTDAFRR RRWRRRMEPL EKTGPAAVFA LEGALGGMVD DKSEDSMSVS TLSFGVNRPT ISCIFDYGNR YHLRCYLYQA RDLPAMDKDS FSDPYAIVSF LHQSQKTVVE KNTLNPTWDQ TLIFYEIEIF GEPASIAEHP PCIVVELYDH DTYGADEFMG RCICQPSLER MPRLAWFPLT RGSQPAGELL AAFELIQREK PAIHHIPGFE MHETSRILDE TEDTDLPYPP PQREANIYMV PQNIKPALQR TAIEILAWGL RNMKSYQMAS ISSPSLVVEC GGQTVQSCVI RNLRKNPNFD VCTLFMEVML PREDLYCPPI VVKVIDNRQF GRRPVVGQCT IRSLENFLCD PYSAESPSPQ GGPDDVSLLS PGEDVLIDID DKEPLIPVQL TDGLSSLGPT NLTPSPSSPH EEEFIDWWSK FFASVGEREK CGSYLEKDFD TLKVYDTQLE NVEAFGGLSD FCNTFKLYRG RTQEETDDPS VIGEFKGLFK IYPLPEDPAI PMPPRQFHQL AAQGPQECLV RIYIVRAFGL QPKDPNGKCD PYIKISIGKK SVSDQDNYIP CTLEPVFGKM FELTCTLPLE KDLKITLYDY DLLSKDEKIG ETVIDLENRL LSKFGARCGL PQTYCVSGPN QWRDQLRPSQ LLHLFCQQHR IKAPVYRTDR VTFQDKDYTI EEIEAGRLPN PHLGPVEERL ALHVLQQQGL VPEHVESRPL YSPLQPDIEQ GKLQMWIDIF PKVLGRPGPP FNITPRKARR FFLRCIIWNT KDVILDDLSL TGEKMSDIYV KGWMVGFEEH KQKTDVHYRS LGGEGNFNWR FVFPFDYLPA EQVCAVAKKD AFWRLDKTES KIPARVVFQI WDNDKFSFDD FLGSLQLDLN RMPKPAKTAE KCSLDQLDDT FHPEWFVSLF EQKTVKGWWP CVTEEGEKKM LAGKLEMTLE IVAESEHEER PAGQGRDEPN MNPKLEDPRR PDTSFLWFTS PYKTMKFILW RRFRCAIILF IILFILLLFL GVFVYAFPNY AAMKLVKPFR //