MYOF_XENTR
ID MYOF_XENTR Reviewed; 1929 AA.
AC B3DLH6; A2RRS9;
DT 16-DEC-2008, integrated into UniProtKB/Swiss-Prot.
DT 22-JUL-2008, sequence version 1.
DT 03-AUG-2022, entry version 69.
DE RecName: Full=Myoferlin;
DE AltName: Full=Fer-1-like protein 3;
GN Name=myof; Synonyms=fer1l3;
OS Xenopus tropicalis (Western clawed frog) (Silurana tropicalis).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Amphibia;
OC Batrachia; Anura; Pipoidea; Pipidae; Xenopodinae; Xenopus; Silurana.
OX NCBI_TaxID=8364;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 44-1929 (ISOFORM 2).
RC STRAIN=N6; TISSUE=Skin, and Testis;
RG NIH - Xenopus Gene Collection (XGC) project;
RL Submitted (JUN-2008) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: May play a role in membrane regeneration and repair.
CC {ECO:0000250}.
CC -!- COFACTOR:
CC Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
CC Evidence={ECO:0000255|PROSITE-ProRule:PRU00041};
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type II
CC membrane protein {ECO:0000250}. Nucleus membrane {ECO:0000250}; Single-
CC pass type II membrane protein {ECO:0000250}. Cytoplasmic vesicle
CC membrane {ECO:0000250}; Single-pass type II membrane protein
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=B3DLH6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=B3DLH6-2; Sequence=VSP_035935;
CC -!- SIMILARITY: Belongs to the ferlin family. {ECO:0000305}.
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DR EMBL; BC131835; AAI31836.1; -; mRNA.
DR EMBL; BC167451; AAI67451.1; -; mRNA.
DR RefSeq; NP_001122123.1; NM_001128651.1. [B3DLH6-1]
DR AlphaFoldDB; B3DLH6; -.
DR SMR; B3DLH6; -.
DR PaxDb; B3DLH6; -.
DR GeneID; 100037837; -.
DR KEGG; xtr:100037837; -.
DR CTD; 100037837; -.
DR Xenbase; XB-GENE-5957842; myof.1.
DR eggNOG; KOG1326; Eukaryota.
DR InParanoid; B3DLH6; -.
DR OrthoDB; 20162at2759; -.
DR Proteomes; UP000008143; Chromosome 7.
DR Proteomes; UP000790000; Unplaced.
DR GO; GO:0005901; C:caveola; ISS:UniProtKB.
DR GO; GO:0030659; C:cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0031965; C:nuclear membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0005543; F:phospholipid binding; ISS:UniProtKB.
DR GO; GO:0061025; P:membrane fusion; IBA:GO_Central.
DR GO; GO:0007520; P:myoblast fusion; IEA:InterPro.
DR GO; GO:0007009; P:plasma membrane organization; IBA:GO_Central.
DR GO; GO:0001778; P:plasma membrane repair; ISS:UniProtKB.
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; -; 5.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
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; IPR029999; Myoferlin.
DR InterPro; IPR006614; Peroxin/Ferlin.
DR PANTHER; PTHR12546; PTHR12546; 1.
DR PANTHER; PTHR12546:SF55; PTHR12546:SF55; 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; 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; SSF49562; 6.
DR PROSITE; PS50004; C2; 6.
PE 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Cell membrane; Cytoplasmic vesicle;
KW Membrane; Metal-binding; Nucleus; Reference proteome; Repeat;
KW Signal-anchor; Transmembrane; Transmembrane helix.
FT CHAIN 1..1929
FT /note="Myoferlin"
FT /id="PRO_0000355562"
FT TRANSMEM 1894..1914
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 62..179
FT /note="C2 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 218..354
FT /note="C2 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 996..1124
FT /note="C2 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 1159..1283
FT /note="C2 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 1408..1527
FT /note="C2 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 1645..1793
FT /note="C2 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT REGION 1..53
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 898..918
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1845..1867
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..22
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1845..1862
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 267
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 267
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 275
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 323
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 323
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 325
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 325
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 331
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1028
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1034
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1090
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1092
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1442
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1448
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1497
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1499
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1764
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1767
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT BINDING 1770
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT VAR_SEQ 351..363
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_035935"
FT CONFLICT 827
FT /note="D -> E (in Ref. 1; AAI31836)"
FT /evidence="ECO:0000305"
FT CONFLICT 1129
FT /note="S -> A (in Ref. 1; AAI31836)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1929 AA; 220577 MW; F74E425C6A34554D CRC64;
MISYEPPPSA ISNPTDPGGT TIIQGDGEND EEEDRDIVDA GFNPSVPGAP GQTDTQIARR
LVKGKKTRRI LSNKPQDFQI RIRVIEGRQL PGNNIKPVVK VSVGGQTHRT RIKRGNNPYF
DEIFFYNVNM TPLELLDESV IFRLFNSGSI RADSLIGEFK LDVGYIYDEP GHAVMRKWVL
LNDPDDSSSG AKGYLKVSMF VVGTGDEPPV EKRDREMEDD DVESNLLLPA GVALRWVTFF
LKIYRAEDIP QMDDAFAQTV KEIFGADSDK KNLVDPFVEV SFAGKKVCTN RIEKNANPEW
NQAVNLQIKF PSMCENIKLT VYDWDRLTKN DAVGTTCLSL SKIAASGGEI EEYDSTGTGS
SSLEATTEKE VGFLPTFGPC YLNLYGSPRE YTGFPDPYDD LNFGKGEGVA YRGRVLVELT
TKLDNSSIKK IEDISSDDIL VVEKYQRRRK YCLCAVFHSA TMIQDIGEAI QFEVSIGNYG
NKFDSTCKPL ASTTQYSRPI FDGNYYYYLP WSFTKPVVTL TSYWEDISHR LDIVNILIAM
TDRLQSNIST LKSAIQAKLP DVRLAEIWMR LIDQLIEDTM RPMPSLEGKA NVTVLDKQRD
KLRQTSLKYI QEAAIKMRGE ATDVKATLTE IEDWLDRLQQ LSEEPQNSMP DVIIWMIRAE
KRLAYARVPA HQVLFSKTSE EACGKYCGKT QTVFLQYPLD KTKGLKIPTE LRVNIWLGLS
EVEKKFNSYS EGTFSVYAEM YENQALLLGK WGTTGLLKRH KFSDVTGSIK LKRESFLPPK
GWEWEDDWKV DPERSLLTEA DAGHTEFTDE IFENEARYPG GEWKKADETF TDANGEKSAS
PSDLSCPFGW IWDDDGWMRD INRAVDENGW EYGLTIPPDS KPKSWVAAEK MYHTNRRRRL
VRKRKKDPKV STTSKAALTP QEQEGWEYAA LIGWKFHITP RSSDTFRRRR WRRKMAPSDQ
HGAAAIFKLE GALGTDMTED EEKKGSEKQT ATNVFGANTP IVSCTFDKFY TYHLRCYIYQ
ARGLTPLDKD SFSDPYAHVS FLHRSKTTET IRSTLNPTWD QTLIFNTIDI YGDPHAVAQN
PPNVVIEIFD YDQVGKDEFL GRSVCMPMVK LNPEVDIAPK LLWYPVMNSN KHCGDLLLAA
ELIIREKDGS NLPILPSQRA PQIYMVPQGI RPVVQLTAIE ILTWGLRNMK SYQLASVTSP
SLIVECGGEI VETAVIKNLK KTPNFYSSVL FMKVLLPKDE MYVPPIIIKI VDHRPFGRKP
VVGQCTIECL EEFRCDPYLT KHEDAPELRV ARLTSSPLRD VVIEVEDTKP LLANQLQEKE
EEVVDWWSKY YASTGETEKC GQYIQKGYTT LKVYKCELEN VSEFRGLTDF CDTFKLYRGK
AEDSDDPSVV GEFKGSFRIY PLPDDPNIPY PPRQFLELPG TESQECIVRI YIVRGIDLQP
KDNNGLCDPY IKITLNKKVI EDRDHYIPNT LNPLFGRMYE LSCFLPQEKD LKISVYDYDT
LTRDEKVGET TIDLENRFLS RFGSHCGLPQ TYCISGINQW RDQLTPTQIL QNFARLKSSP
PPVFSDNGTR LTFSSKDYTL EEFENNRKIH QHLGPPNERL ALYVLRTQGL VPEHVETRTL
YSTFQPNISQ GKLEMWVDVF PKSLGPPGPP FNITPRKAKK YVLRVIVWNT KDVILDEKSI
TGEEMSDIYV KGWIPGNEEN KQKTDVHYRS LDGEGNFNWR FVFPFEYLPA EQLCIVSKKE
HFWSLDKTEF KLPPKLILQI WDNDKFSLDD YLGFVELDLH RTTIPAKVPE KCSFNLLDQD
KHSKVASLFE QKSMKGWWPC HAEKDGKRIL AGKIEMTLEV LNEKDAEERP AGKGRDEPNM
NPKLDPPNRP DTSFLWFTNP CKTMKFIIWR RFKWVFIGLI ILLLVLLFLG VFFYSLPGYV
SMKIVKPNL
