ID A0A452DVR7_CAPHI Unreviewed; 2024 AA.
AC A0A452DVR7;
DT 08-MAY-2019, integrated into UniProtKB/TrEMBL.
DT 08-MAY-2019, sequence version 1.
DT 24-JAN-2024, entry version 19.
DE SubName: Full=Dysferlin {ECO:0000313|Ensembl:ENSCHIP00000003780.1};
GN Name=DYSF {ECO:0000313|Ensembl:ENSCHIP00000003780.1};
OS Capra hircus (Goat).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae;
OC Caprinae; Capra.
OX NCBI_TaxID=9925 {ECO:0000313|Ensembl:ENSCHIP00000003780.1, ECO:0000313|Proteomes:UP000291000};
RN [1] {ECO:0000313|Ensembl:ENSCHIP00000003780.1, ECO:0000313|Proteomes:UP000291000}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Bickhart D.M., Koren S., Rosen B., Hastie A., Liachko I., Sullivan S.T.,
RA Burton J., Sayre B.L., Huson H.J., Lee J., Lam E., Kelley C.M.,
RA Hutchison J.L., Zhou Y., Sun J., Crisa A., Schwartz J.C., Hammond J.A.,
RA Schroeder S.G., Liu G.E., Dunham M., Shendure J., Sonstegard T.S.,
RA Phillippy A.M., Van Tassell C.P., Smith T.P.;
RT "Polished mammalian reference genomes with single-molecule sequencing and
RT chromosome conformation capture applied to the Capra hircus genome.";
RL Submitted (APR-2016) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000313|Ensembl:ENSCHIP00000003780.1}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (SEP-2023) to UniProtKB.
CC -!- SIMILARITY: Belongs to the ferlin family.
CC {ECO:0000256|ARBA:ARBA00007561}.
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DR EMBL; LWLT01000009; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR Ensembl; ENSCHIT00000010964.1; ENSCHIP00000003780.1; ENSCHIG00000007595.1.
DR GeneTree; ENSGT00940000156187; -.
DR Proteomes; UP000291000; Chromosome 11.
DR Bgee; ENSCHIG00000007595; Expressed in longissimus thoracis muscle and 17 other cell types or tissues.
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; cd04017; C2D_Ferlin; 1.
DR CDD; cd04037; C2E_Ferlin; 1.
DR CDD; cd08374; C2F_Ferlin; 1.
DR Gene3D; 2.60.40.150; C2 domain; 5.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR037726; C2A_Ferlin.
DR InterPro; IPR037720; C2B_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; 6.
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; 6.
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); 6.
DR PROSITE; PS50004; C2; 6.
PE 3: Inferred from homology;
KW Calcium {ECO:0000256|ARBA:ARBA00022837};
KW Cell membrane {ECO:0000256|ARBA:ARBA00022475};
KW Membrane {ECO:0000256|ARBA:ARBA00023136, ECO:0000256|SAM:Phobius};
KW Metal-binding {ECO:0000256|ARBA:ARBA00022723};
KW Reference proteome {ECO:0000313|Proteomes:UP000291000};
KW Repeat {ECO:0000256|ARBA:ARBA00022737};
KW Transmembrane {ECO:0000256|ARBA:ARBA00022692, ECO:0000256|SAM:Phobius};
KW Transmembrane helix {ECO:0000256|ARBA:ARBA00022989,
KW ECO:0000256|SAM:Phobius}.
FT TRANSMEM 1990..2011
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT DOMAIN 1..101
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 200..322
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1083..1209
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1236..1366
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1505..1623
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1739..1887
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT REGION 132..219
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1938..1961
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 152..168
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 184..198
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 2024 AA; 229245 MW; 807434ACD4EFC092 CRC64;
MLRVFILYAE NVHTPDTDIS DAYCSAVFAG VKKRTKVIKN NVNPVWNEGF EWDLKGIPLD
QGSELLVVVK DHETMGRNRF LGEANIPLRE VLATPSLSAS FNAPLLDTKK QPTGASLVLQ
VSYTPLPGAM PTFPPLTPLE PSPTLPDMDM VADTGGEEDT EDQGLTGDEA EPFLDQSGAP
GPGAPSTPKK PPSHPPPYHP GGRRKRSAPA PRKLLSDKPQ DFQIRVQVIE GRQLPGVNIK
PVVKVTAAGQ TKRTRIHKGN SPFFNETLFF NVFDSPAELF NEPIFITVVD SRSLRTDALI
GEFRGVVSLG HAYLRKWLLL SDPDDFSAGA RGYLKASLCV LGPGDEAPLE RKDPSEDKED
IESNLLRPIG VTLRGAHFCL KVFRAEDLPQ MDDAVMDNVK QIFGFDSNKK NLVDPFVEVN
FAGKMVRRLA GGWQLADRLT HNDIVATTYL SMSKISASGG EIEEEPAGVV KLSPATELDD
HLGFLPTFGP CYINLYGSPR EFTGFPDPYA ELNTGKGEGV AYRGRLLLSL ETKLVERSEQ
KVEALSADDI LRVEKYLRRR KYSLFAAFYS ATMLQDVDDA VQFEVSIGNY GNKFDTTCLP
LASTTQYSRA VFDGCHYYYL PWGNVKPVVV LSSYWEDISH RVEAQNQLLR IADQLEAGLE
QVHLALKAQC SDEDVDSLVA QLMDELIAGC SQPLGDVQEM PSATHLDQYL YQLRTRHLSQ
ITEAAQALKL GHSELPAALE QAEDWLLRLR ALADEPQNSL PDVVIWMLQG DKRVAYQRVP
AHEVLFSRRG SSYCGKNCGK LQTIFLKYPM EGVPGARMPV QIRVRLWFGL SVDEKEFNQF
AEGKLSVFAE TYENQTKLAL VGNWGTTGLT YPKFSDITGR IKLPKDSFRP SAGWAWAGDW
FVCPEKTLLH DTDAGHLSFV EEVFENQTRL PGGQWIYMSD NYTDVVRGFC ERPLSAEWEM
YSITIPPDRK PRHWVPAEKM YYTHRRRRWV RLRRRDLSQM EALKRHRQAE AEGEGWEYAS
LFGWKFHLEY RKTDAFRRRR WRRRMEPLEK TGPAAVFALE GALGGVVDDR SEDSVSVSTL
SFGVNRPTIS CIFDYGNRYH LRCYMYQARD LPAMDKDSFS DPYAVVSFLH QSQKTVVAKN
TLNPTWDQTL IFYEIEIFGE PSSIAEQPPS IVVELYDHDT YGVDEFMGRC ICQPSLERMP
RLAWFPLTRG SQPAGELLAS FELIQREKPA PTTGVGVGGL PFSGPALPGP GAFPAALLTP
HPQVLAWGLR NMKSYQLASV SSPSLVVECG GQSVQSCVIK NLRKNPNFDI CTLFMEVMLP
REELYCPPIV VKVIDNRQFG RRPVVGQCTI RCLESFLCDP YSEESPSPQG GPDDVSLLSP
GEDVLIDIDD KEPLIPTQVG RVPGHRHWFT LSPRLEEFID WWSKFFASIG ESEKCGSYLE
KDFDTLKVYD TPLENVKAFE GLSDFCNTFK LYRGKTQEET EDPSVIGEFK GLFKIYPLPE
DPAIPLPPRQ FHQLASQGPQ ECLVRVYIIR AFGLQPKDPN GKCDPYIKIS IGKKSVSDQD
NYIPCTLEPV FGKMFELTCT LPLEKDLKVT LYDYDLLSKD EKIGETVIDL ENRLLSKFGA
RCGLPQTYCV SGPNQWRDQL RPSQLLHLFC QQHRVKAPVY RTDRVVFQDK EYTIEEIEAG
RVPNPHLGPV EERLALHVLQ QQGLIPEHVE SRPLYSPLQP DIEQGKLQMW VDLFPKALGR
PGPPFNITPR RARRFFLRCI IWNTKDVILD DLSITGEKMS DIYVKGWMVG FEEHKQKTDV
HYRSLGGEGN FNWRFVFPFD YLPAEQVCTV SKKDAFWRLD KTESKIPARV IFQIWDNDKF
SFDDFLGSLQ LDLNHMPKPA KTAEKCSVDQ LEATFHPERF VSLFEQKTVK GWWPCVADEG
EKKMLAGKLE MTLEIVTESE HEERPAGHGR DEPNMNPKLE DPRRPDTSFL WFTSPYKTMK
FILWRRFRCA IILFLILFIF LLFLGIFVYS FPNYAAMKLV KPFS
//
