LRC39_DANRE
ID LRC39_DANRE Reviewed; 343 AA.
AC F1R6I3; A8E5F1; Q567F2; Q66I91;
DT 27-SEP-2017, integrated into UniProtKB/Swiss-Prot.
DT 20-JAN-2016, sequence version 2.
DT 03-AUG-2022, entry version 69.
DE RecName: Full=Leucine-rich repeat-containing protein 39 {ECO:0000305};
DE AltName: Full=Myosin-interacting M-band-associated stress-responsive protein {ECO:0000303|PubMed:20847312};
DE Short=Myomasp {ECO:0000303|PubMed:20847312};
GN Name=lrrc39 {ECO:0000312|ZFIN:ZDB-GENE-050417-279};
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Heart;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (SEP-2007) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=20847312; DOI=10.1161/circresaha.110.222372;
RA Will R.D., Eden M., Just S., Hansen A., Eder A., Frank D., Kuhn C.,
RA Seeger T.S., Oehl U., Wiemann S., Korn B., Koegl M., Rottbauer W.,
RA Eschenhagen T., Katus H.A., Frey N.;
RT "Myomasp/LRRC39, a heart- and muscle-specific protein, is a novel component
RT of the sarcomeric M-band and is involved in stretch sensing.";
RL Circ. Res. 107:1253-1264(2010).
CC -!- FUNCTION: Component of the sarcomeric M-band which plays a role in
CC myocyte response to biomechanical stress (By similarity). May regulate
CC expression of other M-band proteins via an SRF-dependent pathway (By
CC similarity). Important for normal contractile function in heart
CC (PubMed:20847312). {ECO:0000250|UniProtKB:D3ZXS4,
CC ECO:0000269|PubMed:20847312}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, M line
CC {ECO:0000250|UniProtKB:D3ZXS4}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein results in
CC severe contractile dysfunction of the heart, leading to pericaridal
CC edema and blood congestion. Heart development and gross cardiac
CC morphology appear to be normal. Cardiomyocytes show some
CC ultrastructural abnormalities including narrowing of the M-band and a
CC poorly defined A-band/M-band transition. {ECO:0000269|PubMed:20847312}.
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DR EMBL; CR936359; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC081474; AAH81474.1; -; mRNA.
DR EMBL; BC093194; AAH93194.1; -; mRNA.
DR EMBL; BC153572; AAI53573.1; -; mRNA.
DR RefSeq; NP_001017760.1; NM_001017760.1.
DR AlphaFoldDB; F1R6I3; -.
DR SMR; F1R6I3; -.
DR STRING; 7955.ENSDARP00000096455; -.
DR PaxDb; F1R6I3; -.
DR Ensembl; ENSDART00000105678; ENSDARP00000096455; ENSDARG00000071465.
DR Ensembl; ENSDART00000162685; ENSDARP00000136641; ENSDARG00000071465.
DR Ensembl; ENSDART00000188474; ENSDARP00000154210; ENSDARG00000116738.
DR GeneID; 550456; -.
DR KEGG; dre:550456; -.
DR CTD; 127495; -.
DR ZFIN; ZDB-GENE-050417-279; lrrc39.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000158998; -.
DR InParanoid; F1R6I3; -.
DR OMA; PPLMEDM; -.
DR OrthoDB; 1085197at2759; -.
DR TreeFam; TF333627; -.
DR PRO; PR:F1R6I3; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 22.
DR Bgee; ENSDARG00000071465; Expressed in heart and 17 other tissues.
DR ExpressionAtlas; F1R6I3; baseline.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IBA:GO_Central.
DR GO; GO:0031430; C:M band; IEA:UniProtKB-SubCell.
DR GO; GO:0004722; F:protein serine/threonine phosphatase activity; IBA:GO_Central.
DR GO; GO:0055008; P:cardiac muscle tissue morphogenesis; IMP:ZFIN.
DR GO; GO:0060047; P:heart contraction; IMP:ZFIN.
DR GO; GO:0045214; P:sarcomere organization; IMP:ZFIN.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR Gene3D; 3.80.10.10; -; 2.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF13855; LRR_8; 2.
DR SMART; SM00369; LRR_TYP; 6.
DR PROSITE; PS51450; LRR; 8.
PE 2: Evidence at transcript level;
KW Cytoplasm; Leucine-rich repeat; Muscle protein; Reference proteome; Repeat.
FT CHAIN 1..343
FT /note="Leucine-rich repeat-containing protein 39"
FT /id="PRO_0000441699"
FT REPEAT 64..87
FT /note="LRR 1"
FT /evidence="ECO:0000255"
FT REPEAT 88..110
FT /note="LRR 2"
FT /evidence="ECO:0000255"
FT REPEAT 111..133
FT /note="LRR 3"
FT /evidence="ECO:0000255"
FT REPEAT 134..156
FT /note="LRR 4"
FT /evidence="ECO:0000255"
FT REPEAT 158..180
FT /note="LRR 5"
FT /evidence="ECO:0000255"
FT REPEAT 181..203
FT /note="LRR 6"
FT /evidence="ECO:0000255"
FT REPEAT 204..226
FT /note="LRR 7"
FT /evidence="ECO:0000255"
FT REPEAT 228..249
FT /note="LRR 8"
FT /evidence="ECO:0000255"
FT REPEAT 250..274
FT /note="LRR 9"
FT /evidence="ECO:0000255"
FT REPEAT 275..295
FT /note="LRR 10"
FT /evidence="ECO:0000255"
FT CONFLICT 103
FT /note="I -> V (in Ref. 2; AAH81474)"
FT /evidence="ECO:0000305"
FT CONFLICT 168
FT /note="R -> Q (in Ref. 2; AAH93194)"
FT /evidence="ECO:0000305"
FT CONFLICT 208
FT /note="W -> R (in Ref. 2; AAH81474)"
FT /evidence="ECO:0000305"
FT CONFLICT 215
FT /note="I -> V (in Ref. 2; AAI53573)"
FT /evidence="ECO:0000305"
FT CONFLICT 222
FT /note="N -> D (in Ref. 2; AAH93194)"
FT /evidence="ECO:0000305"
FT CONFLICT 231
FT /note="T -> A (in Ref. 2; AAH81474)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 343 AA; 39911 MW; 8B0E2F8BE71E987B CRC64;
MTGVTVCCGT VNSIKALWET RIKKTKDDLK KEKEQKDRRA VGRLTGAWED RIILAKLKEK
IVTEEGRVIL RIEKEEWKTL PPALVQLSQI QEWQLHRIGL QRIPRFISSF QSLIVLDLSR
NSVTEIPKEI GKLTRLRELL LSYNRVSYVP EELGCCENLE KLELAMNRDL DELPTQLSNL
KKLSHLDLSM NQFTTIPDCV VNLPSLEWLD MGSNILETLP DNIHRMEKLH TLWLPRNELE
YLPDNISRMK SLDTLVLSKN KLRDIPPLME GMSNLRFVNF RDNPLTYDVT LPDLNEDVEE
EENDREMFGR EFMNFYIQEA RKRGSQNFTS VLNVMLEGVS ETA
