ID A0A452S9X3_URSAM Unreviewed; 2038 AA.
AC A0A452S9X3;
DT 08-MAY-2019, integrated into UniProtKB/TrEMBL.
DT 08-MAY-2019, sequence version 1.
DT 24-JAN-2024, entry version 21.
DE SubName: Full=Dysferlin {ECO:0000313|Ensembl:ENSUAMP00000029058.1};
GN Name=DYSF {ECO:0000313|Ensembl:ENSUAMP00000029058.1};
OS Ursus americanus (American black bear) (Euarctos americanus).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Carnivora; Caniformia; Ursidae; Ursus.
OX NCBI_TaxID=9643 {ECO:0000313|Ensembl:ENSUAMP00000029058.1, ECO:0000313|Proteomes:UP000291022};
RN [1] {ECO:0000313|Proteomes:UP000291022}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Korstanje R., Srivastava A., Sarsani V.K., Sheehan S.M., Seger R.L.,
RA Barter M.E., Lindqvist C., Brody L.C., Mullikin J.C.;
RT "De novo assembly and RNA-Seq shows season-dependent expression and editing
RT in black bear kidneys.";
RL Submitted (JUN-2016) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000313|Ensembl:ENSUAMP00000029058.1}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (SEP-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 Ensembl; ENSUAMT00000032443.1; ENSUAMP00000029058.1; ENSUAMG00000017025.1.
DR GeneTree; ENSGT00940000156187; -.
DR Proteomes; UP000291022; Unassembled WGS sequence.
DR GO; GO:0030659; C:cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0016043; P:cellular component organization; IEA:UniProt.
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; IPR010482; Peroxin.
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 Pfam; PF06398; Pex24p; 1.
DR SMART; SM00239; C2; 7.
DR SMART; SM00694; DysFC; 1.
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:UP000291022};
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 2004..2025
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT DOMAIN 1..101
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 205..332
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 338..474
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1073..1199
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1247..1375
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1519..1637
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1753..1901
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT REGION 129..219
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1954..1976
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 2038 AA; 230701 MW; 873F8B014EB7B4F5 CRC64;
MLRVFILYAE NVHTPDTDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGF EWDLKGIPLD
QSSELHVVVK DHETMGRNRF LGEAQVPLRE VLATPSLSAS FNAPLLDTKK QPTGASLVLQ
VSYTPLPGAV PLFPPSASLE PSPTLPDMDM VADTGGEEDT EDQGLTGDEA EPLLDQSGAP
GPGAPTTPKK PPSHPPPYHP GSKRKRGAPT PRKLLSDKPQ DFQIRVQVIE GRQLPGVNIK
PVVKVTAAGQ TKRTRIHKGN SPLFNETLFF NVFDSPSELF DEPIFITVRL RHAYLRKWLL
LSDPDDFSAG ARGYLKASLC VLGPGDEAPL ERKDPSEDKE DIENNLLRPT GVALRGAHFC
LKVFRAEDLP QMDDAVMDNV KQIFGFDSNK KNLVDPFMEV SFAGKMLCSK ILEKTANPQW
NQSITLPAMF PSMCEKMRIR VMDWDRLTHN DIVATTYLSM SKISAPGGEI EEEPAGVVKP
SPAMDLDDHL GFLPTFGPCY VNLYGSPREF TGFPDPYAEL NTGKGEGVAY RGRLLLSLET
KLVEHSDQKV EDLPADDILR VEKYLRRRKY SLFAAFYSAS MLQDVDDAIQ FEVSIGNYGN
KFDTTCLPLA STTQYSRAVF DGCHYYYLPW GNVKPVVVLS SYWEDISHRV EAQNQLLRIA
DRLEAALEQV HLAMKAQCNA EDVDSLLAQL MDELISDCSQ PLGDVHETPS ATHLDQYLHR
LRSRHLSQIA EAALALKLGH GGLPAALEQA EDWLLRLRAL AEEPQNSLPD VIIWMLQGDK
RVAYQRVPAH EVLFSRRGAS YCGKNCGKLQ TIFLKYPMQG VPGARMPVQI RVKLWFGLSV
DEKEFNQFAE GKLSVFAETY ENQTKLALVG NWGTTGLTYP KFSDVTGKIK LPKDSFRPSA
GWTWAGDWFV CPEKTLLHDT DAGHLSFVEE VFENQTRLPG GQWIYMSDNY TDVNGEKVLP
KDDIECPLGW KWEDEEWSTD LNRAXGNLCP VLPAQHRQAE AEGEGWEYAS LFGWKFHLEY
RKTDAFRRRR WRRRMEPLEK TGPAAVFALE GALGGVVDDR SEDSMSVSTL SFGVNRPTIS
CIFDHGNRYH LRCYMYQARD LPSMDKDSFS DPYAIVSFLH QSQKTVVVKN TLNPTWDQTL
IFYEIEIFGE PASIAEQPPS IVVELYDHDT YGADEFLGRC MCQPSLERMP RLAWFPLTRG
SQPAGELLAS FELIQREKVR LLHTHIQEVQ DTSGILDESE DTDLPYPPPQ REANIYMVPQ
NIKPVLQRTA IEILAWGLRN MKSYQLASIS SPSLVVECGG QTVQSCVIKN LRKNPNFDIC
TLFMEVMLPR EELYCPPIVI KVIDNRQFGR RPVVGQCTVR SLESFMCDLY SEESPSPQGG
PDDVSLLSPG EDVLIDIDDK EPLIPIQLAD GLLGSAPTNM ASSPSSLHEE EFIDWWSKFF
ASTGEREKCG SYLEKGFDTL KVYDTQLENV EAFGGLSDFC NTFKLYRGKT QEETEDPSVI
GEFKGLFKIY PLPEDPAVPM PPRQFHQLAA QGPQECLVRI YIIRAFGLQP KDPNGKCDPY
IKISIGKKSV SDQDNYIPCT LEPVFGKMFE LTCTLPLEKD LKITLYDYDL LSKDEKIGET
VIDLENRLLS KFGARCGLPQ TYCVSGPNQW RDQLRPSQLL QLTCQQRRLK APVYLTDRVL
FQDKEYTIEE IEAGRVLNPH LGPVEERLAL HVLRQLGLVP EHVESRPLYS PLQPDIEQGK
LQMWIDLFPK ALGRPGPPFN ITPRRARRFF LRCIIWNTKD VILDDLSITG EKMSDIYVKG
WMVGFEEHKQ KTDVHYRSLG GEGNFNWRFI FPFDYLPAEQ VCTVSKKDAF WRLDKTESKI
PARVVFQIWD NDKFSFDDFL GSLQLDLNRM PKPAKTAEKC SLDQLDDTFH PEWFVSLFEQ
KTVKGWWPCV AEDGEKKILA GKLEMTLEIV AESEHEERPA GQGRDEPNMN PKLEDPKRPD
TSFLWFTSPY KTMKFILWRR FRCAIILFIV LVILLLFLGI FLYSFPNYAA MKLVKPFS
//
