ID A0A493T408_ANAPP Unreviewed; 1776 AA.
AC A0A493T408;
DT 05-JUN-2019, integrated into UniProtKB/TrEMBL.
DT 05-JUN-2019, sequence version 1.
DT 24-JAN-2024, entry version 17.
DE SubName: Full=Dysferlin {ECO:0000313|Ensembl:ENSAPLP00000020622.1};
GN Name=DYSF {ECO:0000313|Ensembl:ENSAPLP00000020622.1};
OS Anas platyrhynchos platyrhynchos (Northern mallard).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda;
OC Coelurosauria; Aves; Neognathae; Galloanserae; Anseriformes; Anatidae;
OC Anatinae; Anas.
OX NCBI_TaxID=8840 {ECO:0000313|Ensembl:ENSAPLP00000020622.1, ECO:0000313|Proteomes:UP000016666};
RN [1] {ECO:0000313|Proteomes:UP000016666}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Hou Z.-C., Zhou Z.-K., Zhu F., Hou S.-S.;
RT "A new Pekin duck reference genome.";
RL Submitted (OCT-2017) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000313|Ensembl:ENSAPLP00000020622.1}
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; ENSAPLT00000044999.1; ENSAPLP00000020622.1; ENSAPLG00000003642.2.
DR GeneTree; ENSGT00940000156187; -.
DR Proteomes; UP000016666; 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 CDD; cd08373; C2A_Ferlin; 1.
DR CDD; cd04011; C2B_Ferlin; 1.
DR CDD; cd04018; C2C_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; IPR037722; C2C_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; 5.
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; 5.
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); 5.
DR PROSITE; PS50004; C2; 5.
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:UP000016666};
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 1732..1754
FT /note="Helical"
FT /evidence="ECO:0000256|SAM:Phobius"
FT DOMAIN 1..102
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 234..348
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 387..523
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1248..1366
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT DOMAIN 1480..1630
FT /note="C2"
FT /evidence="ECO:0000259|PROSITE:PS50004"
FT REGION 129..247
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1683..1704
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 129..146
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 171..185
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 209..223
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 225..240
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1776 AA; 201428 MW; 777EEF9C79EF263E CRC64;
RAFLRGGRAS SLPCCGETEA RHNPCALLPT GVKKKTKVIK NNVNPVWNEG FEWDLKGTAL
DPGSELSVVV KDHETMGRNR FLGEARVPLR DVLSSPSLAA SFNVPLLDAK KQTTGAFLIL
QVSYTPPPGA APLFPPPSPP EPSPGAAEPD TVTGNESAPR VARGDTTPTA HPKPPQQPPC
PLPRAEAPTE EEEAEDRPAT GDETEPAPSG PPGSEPPSLP RKPPVHHVHG VRRRRSSPKK
PLSNKPQDFQ IRVRVIEGRQ LPGVNIKPVV KVTVAGQTRR TRIRKGNSPF FDETFFFNVF
ESPAELFDAP IFITVSRSGS SPGGSLAPSH HPRVFVHSPE HAFLRKWLLL SDPEDFSAGA
KGYLKVSLFV LGPGDEAPME KKEVSEDKED IEGNLLRPTG VTLRGAHFCL KIFKAEDLPQ
MDDAVMDNVR QVFGFESNKK NLVDPFVEVS FAGKMLYSRI LEKNANPQWN QCLTLPAMFP
SMCEKMRIRV TDWDRLTHND IIGTAYLCMS KISAPGGELE GKGGRQDVAL GALDDGLGFL
PTFGPCYINL YGSPREFTGF PDPYETLNLG KGEGVAYRGR VLVELETRLV EHVEQKVEDI
SADDILRVEK YLRRRKYSLF AAFYSATMLQ DVDDAIQFEV SIGNYGNKFD NTCLPLASTT
QYSRAVFDGC QYYYLPWGNV KPVVVLSSYW EDISARTDAQ NLLHHTADRL EANLEKVQLA
LKAKCSSSEL DSLGAQLLDD IIADCSVPLP DVLGKPASTH LDQNMYRFRS TNLEQVVQAA
LKLKHEDLSL PAVLEQAEDW LCRLKAMAEE PQNSLPDVVI WMLQGDKRVA YARVPAHEVL
FSKNIPACCG KNCGKLQTIF LKYPQEEAMG PKIPAQIRVQ LWFGLSVDEK EFNQYAEGKL
SVFAETYENQ TKLALVGNWG TTGLTYPKYS DVTGKIKLPK DSFRPSTGWT WAGDWFICPE
KTLLHEADAG HLSFVEEVFE NQVRLPGGQW IQMADAYTDV NGEKVLHKDE IECPPGWKWE
DVEWDTDLNR AVDEKGWEYG ITIPPDRKPK AWVPAEKMYH TNRRRRWVRL RRRDLAQMEA
MRKHKQEELD GEGWEYASLF GWRFHMKPRR TDAFRRRRWR RRMEPLERTG AAAVFALEGA
LVGTRPPPAV CLAHVLLPLA EACRIQGSKH FCCSPIRAQR SRAGILSGEG VYETELENVE
DFEHLSDFCH TFRLYRGRSQ DSNDDPSVVG EFKGSFRIYP LPDDPRVPAP PRQFHQLPAR
GPQECLVRVY IVRAFGLQPK DSNGKCDPYV KISVGKKSIN DQENYLPCTL EPVFGKMFEL
SCTLPLEKDL KITLYDYDLL SKDEKIGETV IDLENRFLSK YGARCGLPQT YCVSGPNQWR
DQLRPSQLLH LFSLQHNYKA PTYKSDRLIF REQEYILSEL EDGKPVNPHL GPVEERLALY
ALRKQGLVPE HVETRALYSP LQPEIEQGKL QMWVDLFPKS LGQPGPPFNI TPRKAKRFYL
RCIIWNTKDV ILDDLSITGE KMSDIYVKGW LVGHEENKQK TDVHYRSMGG EGNFNWRFIF
PFDYLPAEQM CYIAKKEHFW SLDKTENKIP PQLIFQIWDN DKFSFDDYLG SIQMDLNRMP
KPAKTAEKCS LELVDESLSS GRFVSLFEQK TVKGWWPCVA EQDQKKTLAG KLEMTLEIVA
EQEHEERPAG VGRDEPNMNP KLEDPKRPET SFLWFTSPYK TLKYILWRRY KWVLVLAIVL
FILLLFLGIF IYAFPKPFRQ QTYNATQKLD VRIRGH
//