ID H0VGC4_CAVPO Unreviewed; 2103 AA.
AC H0VGC4;
DT 22-FEB-2012, integrated into UniProtKB/TrEMBL.
DT 22-NOV-2017, sequence version 2.
DT 27-MAR-2024, entry version 63.
DE SubName: Full=Dysferlin {ECO:0000313|Ensembl:ENSCPOP00000009158.3};
GN Name=DYSF {ECO:0000313|Ensembl:ENSCPOP00000009158.3};
OS Cavia porcellus (Guinea pig).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Hystricomorpha; Caviidae;
OC Cavia.
OX NCBI_TaxID=10141 {ECO:0000313|Ensembl:ENSCPOP00000009158.3, ECO:0000313|Proteomes:UP000005447};
RN [1] {ECO:0000313|Proteomes:UP000005447}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=2N {ECO:0000313|Proteomes:UP000005447};
RX PubMed=21993624; DOI=10.1038/nature10530;
RA Lindblad-Toh K., Garber M., Zuk O., Lin M.F., Parker B.J., Washietl S.,
RA Kheradpour P., Ernst J., Jordan G., Mauceli E., Ward L.D., Lowe C.B.,
RA Holloway A.K., Clamp M., Gnerre S., Alfoldi J., Beal K., Chang J.,
RA Clawson H., Cuff J., Di Palma F., Fitzgerald S., Flicek P., Guttman M.,
RA Hubisz M.J., Jaffe D.B., Jungreis I., Kent W.J., Kostka D., Lara M.,
RA Martins A.L., Massingham T., Moltke I., Raney B.J., Rasmussen M.D.,
RA Robinson J., Stark A., Vilella A.J., Wen J., Xie X., Zody M.C., Baldwin J.,
RA Bloom T., Chin C.W., Heiman D., Nicol R., Nusbaum C., Young S.,
RA Wilkinson J., Worley K.C., Kovar C.L., Muzny D.M., Gibbs R.A., Cree A.,
RA Dihn H.H., Fowler G., Jhangiani S., Joshi V., Lee S., Lewis L.R.,
RA Nazareth L.V., Okwuonu G., Santibanez J., Warren W.C., Mardis E.R.,
RA Weinstock G.M., Wilson R.K., Delehaunty K., Dooling D., Fronik C.,
RA Fulton L., Fulton B., Graves T., Minx P., Sodergren E., Birney E.,
RA Margulies E.H., Herrero J., Green E.D., Haussler D., Siepel A., Goldman N.,
RA Pollard K.S., Pedersen J.S., Lander E.S., Kellis M.;
RT "A high-resolution map of human evolutionary constraint using 29 mammals.";
RL Nature 478:476-482(2011).
RN [2] {ECO:0000313|Ensembl:ENSCPOP00000009158.3}
RP IDENTIFICATION.
RC STRAIN=2N {ECO:0000313|Ensembl:ENSCPOP00000009158.3};
RG Ensembl;
RL Submitted (NOV-2023) 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}.
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DR EMBL; AAKN02036878; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AAKN02036879; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AAKN02036880; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR STRING; 10141.ENSCPOP00000009158; -.
DR Ensembl; ENSCPOT00000010290.3; ENSCPOP00000009158.3; ENSCPOG00000010197.4.
DR VEuPathDB; HostDB:ENSCPOG00000010197; -.
DR eggNOG; KOG1326; Eukaryota.
DR GeneTree; ENSGT00940000156187; -.
DR HOGENOM; CLU_001183_2_1_1; -.
DR InParanoid; H0VGC4; -.
DR OMA; DAYCSVT; -.
DR TreeFam; TF316871; -.
DR Proteomes; UP000005447; Unassembled WGS sequence.
DR Bgee; ENSCPOG00000010197; Expressed in heart and 13 other cell types or tissues.
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 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; FER-1-LIKE; 1.
DR PANTHER; PTHR12546:SF33; SPERM VESICLE FUSION PROTEIN FER-1; 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 3: Inferred from homology;
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 Reference proteome {ECO:0000313|Proteomes:UP000005447};
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 2069..2090
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT DOMAIN 1..102
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 206..324
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 363..499
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1138..1264
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1312..1440
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1584..1702
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1816..1966
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT REGION 156..218
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2017..2041
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 179..199
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 2103 AA; 239444 MW; 4B127AB0FA110F75 CRC64;
MLCCLLVRAS NLPNAKKDRR SDPVASLTFR GVKKRTKVIK NSVNPVWNEG FEWDLKGIPL
DQGSELHVVV KDHETMGRNR FLGEAKVPLR EVLATPSLSA SFNAPLLDTK QQPTGASLVL
QVSYTPLPGA VPMFPSPASL EPSPTVPELD VVADTGGEED TEDQGLTGDE AEPFLDPSGA
PGPGAPATPK KPPSHPPPYH PGSKRKRSTP APKKLLSDKP QDFQIRVQVI EGRQLPGVNI
KPVVKVTAAG QTKRTRIHKG NSPVFNECLF FNLFDSPADL FDEPIFITVV DSRSLRTDAL
IGEFRMDVGT IYGEPRHAYL RKWLLLSDPD DFSAGARGYL KASLCVLGPG DEAPLERKDP
SEDREDIESN LLRPTGVVLR GAHFCLKVFR AEDLPQMDDA VMDNVKQIFG FDSNKKNLVD
PFMEVSFAGK MLCSKILEKT ANPQWNQRIT LPAMFPSMCE KMRIRVIDWD RLTHNDIVAT
TYLSMSKISA SGGEIEEEPS GMVKSSQATD LDDNLGFLPT FGPCYVNLYG SPREFTGFPD
PYAELNMGKG EGVAYRGRVL LSLETKLVEH SEQKVEDLPA DDILRVEKYL RRRKYSLFAA
FYSASMLQDV DDAIQFEVSI GNYGNKFDTT CLPLASTTQY SRAVFDCHYY YLPWGNVKPV
VVLSSYWEDI SHRIETQNQL LRIADRLEAG LEQVHLALKA QCSTEDMDLL VAQLMDELIA
DCSQPLSNVL EIPSATHLDQ YLFRLRTRHL NQITEAALAL KLGHSELPAA LEQAEDWLLR
LRALAEEPQN SLPDIVIWML QGDKRVAYQR VPAHEILFSR RGTSYCGKNC GKLQTIFLKY
PMEGLPRARM PVQIRVKLWF GLSVDEKEFN QFAEGKLSVF AETYENQTKL ALVGNWGTTG
LTYPKFSDVT GKIKLPKDSF RPSAGWTWAG DWFVCPEKTL LHDADAGHLS FVEEVFENQT
RLPGGQWIYM SDNYTDVNGE KVLPKDDIEC PLGWKWEDEE WSTDLNRAVD EQGWEYSITI
PPDRKPRHWV PAEKMYYTHR RRRWVRLRRR DLSQMEVLKR HRQAEAEGEG WEYASLFGWK
FHLEYRKTDA FRRRRWRRRM EPLEKTGPAA VFALEGALGG VVDDRSEDSM SVSTLSFGVN
RPTISCIFDY GNRYHLRCYM YQARDLPAMD KDSFSDPYAI VSFLHQSQKT VVVKNTLNPT
WDQTLIFYEI EIFGEPASIA EQPPNIVVEL YDHDTYGADE FMGRCICQPS LERKPRLAWF
PLTRGSQPAG ELLASFELIQ REKPAIHHIP GFEVQDTARI LDESEDTDLP YPPPQREANI
YMVPQNIKPV LQRTAIEILA WGLRNMKSYQ LASISSPSLV VECGGQTVQS CVIRNLRKNP
NFDVCTLFME VMLPREELYC PPIVVKVIDN RQFGRRPVVG QCTIGSLESF LCDPYTSESP
SPQGHPDDVS LLSPGEDVLI DIDDKEPLIP VQLTDGLSSL GPTNMAPSPS SPHEEEFIDW
WSKFFASVGE REKCGSYLEK DFDTLKVYDT ALENVEAFEG LSDFCNTFKL YRGKTQEETE
DPSVIGEFKG LFKIYPLPED PAIPMPPRQF HQLAAQGPQD CLVRIYIVRA FGLQPKDPNG
KCDPYIKISI GKKSVSDQDN YIPCTLEPVF GKMFELTCTL PLEKDLKITL YDYDLLSKDE
KIGETVIDLE NRLLSKFGAR CGLPQTYCVS GPNQWRDQLR PSQLLHLFCQ QHRVKAPVYR
IDRVTFQDKE YTIEEIEAGK IPNPHLGPVE ERLALHVLQQ QGLVPEHVES RPLYSPLQPD
IEQGKLQMWI DLFPKSLGRP GPPFNITPRK AKRFFLRCII WNTKDVILDD LSLTGEKMSD
IYVKGWMVGF EEHKQKTDVH YRSLGGEGNF NWRFVFPFDY LPAEQVCSIA KKDAFWRLDK
TESKIPARVI FQIWDNDKFS FDDFLGSLQL DLNRMPKPAK TAEKCSLDQL DDTFHPEWFV
SLFEQKTVKG WWPCVAEEDE KKILAGKLEM TLEIVTESEH EERPAGQGRD EPNMNPKLEE
PRRPDTSFLW FTSPYKTMKF ILWRRFRCAI ILFIILFILL LFLGIFVYAF PNYAAMKLVK
PFS
//
