LRC39_HUMAN
ID LRC39_HUMAN Reviewed; 335 AA.
AC Q96DD0; B3KUD2; D3DT56; Q5VVK7;
DT 18-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 159.
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; ORFNames=UNQ6500/PRO21368;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skeletal muscle;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skeletal muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP INTERACTION WITH MYH7, AND TISSUE SPECIFICITY.
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. May regulate expression of
CC other M-band proteins via an SRF-dependent pathway. Important for
CC normal contractile function in heart. {ECO:0000250|UniProtKB:D3ZXS4}.
CC -!- SUBUNIT: Interacts with MYH7 (via C-terminus).
CC {ECO:0000269|PubMed:20847312}.
CC -!- INTERACTION:
CC Q96DD0; P12883: MYH7; NbExp=3; IntAct=EBI-9539130, EBI-519141;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, M line
CC {ECO:0000250|UniProtKB:D3ZXS4}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96DD0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96DD0-2; Sequence=VSP_017913;
CC -!- TISSUE SPECIFICITY: Highly expressed in skeletal muscle and heart. Not
CC detected in other tissues tested. {ECO:0000269|PubMed:20847312}.
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DR EMBL; AY358131; AAQ88498.1; -; mRNA.
DR EMBL; AK096892; BAG53394.1; -; mRNA.
DR EMBL; AL445928; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471097; EAW72965.1; -; Genomic_DNA.
DR EMBL; CH471097; EAW72966.1; -; Genomic_DNA.
DR EMBL; CH471097; EAW72968.1; -; Genomic_DNA.
DR EMBL; CH471097; EAW72969.1; -; Genomic_DNA.
DR EMBL; BC009613; AAH09613.1; -; mRNA.
DR CCDS; CCDS58014.1; -. [Q96DD0-2]
DR CCDS; CCDS766.1; -. [Q96DD0-1]
DR RefSeq; NP_001243314.1; NM_001256385.1. [Q96DD0-2]
DR RefSeq; NP_001243315.1; NM_001256386.1. [Q96DD0-1]
DR RefSeq; NP_001243316.1; NM_001256387.1. [Q96DD0-1]
DR RefSeq; NP_653221.1; NM_144620.3. [Q96DD0-1]
DR AlphaFoldDB; Q96DD0; -.
DR SMR; Q96DD0; -.
DR BioGRID; 126062; 11.
DR IntAct; Q96DD0; 16.
DR STRING; 9606.ENSP00000480740; -.
DR iPTMnet; Q96DD0; -.
DR PhosphoSitePlus; Q96DD0; -.
DR BioMuta; LRRC39; -.
DR DMDM; 74760781; -.
DR MassIVE; Q96DD0; -.
DR PaxDb; Q96DD0; -.
DR PeptideAtlas; Q96DD0; -.
DR PRIDE; Q96DD0; -.
DR ProteomicsDB; 76280; -. [Q96DD0-1]
DR ProteomicsDB; 76281; -. [Q96DD0-2]
DR Antibodypedia; 33693; 188 antibodies from 20 providers.
DR DNASU; 127495; -.
DR Ensembl; ENST00000342895.7; ENSP00000344470.3; ENSG00000122477.13. [Q96DD0-1]
DR Ensembl; ENST00000370137.6; ENSP00000359156.1; ENSG00000122477.13. [Q96DD0-1]
DR Ensembl; ENST00000370138.1; ENSP00000359157.1; ENSG00000122477.13. [Q96DD0-2]
DR Ensembl; ENST00000620882.4; ENSP00000480740.1; ENSG00000122477.13. [Q96DD0-2]
DR GeneID; 127495; -.
DR KEGG; hsa:127495; -.
DR MANE-Select; ENST00000370137.6; ENSP00000359156.1; NM_144620.4; NP_653221.1.
DR UCSC; uc001dsw.3; human. [Q96DD0-1]
DR CTD; 127495; -.
DR DisGeNET; 127495; -.
DR GeneCards; LRRC39; -.
DR HGNC; HGNC:28228; LRRC39.
DR HPA; ENSG00000122477; Tissue enhanced (heart muscle, retina, skeletal muscle, tongue).
DR neXtProt; NX_Q96DD0; -.
DR OpenTargets; ENSG00000122477; -.
DR PharmGKB; PA142671527; -.
DR VEuPathDB; HostDB:ENSG00000122477; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000158998; -.
DR HOGENOM; CLU_000288_18_8_1; -.
DR InParanoid; Q96DD0; -.
DR OMA; PPLMEDM; -.
DR OrthoDB; 1085197at2759; -.
DR PhylomeDB; Q96DD0; -.
DR TreeFam; TF333627; -.
DR PathwayCommons; Q96DD0; -.
DR SignaLink; Q96DD0; -.
DR BioGRID-ORCS; 127495; 20 hits in 1070 CRISPR screens.
DR ChiTaRS; LRRC39; human.
DR GeneWiki; LRRC39; -.
DR GenomeRNAi; 127495; -.
DR Pharos; Q96DD0; Tdark.
DR PRO; PR:Q96DD0; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q96DD0; protein.
DR Bgee; ENSG00000122477; Expressed in vastus lateralis and 120 other tissues.
DR Genevisible; Q96DD0; HS.
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: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; 7.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Leucine-rich repeat;
KW Muscle protein; Reference proteome; Repeat.
FT CHAIN 1..335
FT /note="Leucine-rich repeat-containing protein 39"
FT /id="PRO_0000232580"
FT REPEAT 84..105
FT /note="LRR 1"
FT REPEAT 107..128
FT /note="LRR 2"
FT REPEAT 130..151
FT /note="LRR 3"
FT REPEAT 153..176
FT /note="LRR 4"
FT REPEAT 177..197
FT /note="LRR 5"
FT REPEAT 200..221
FT /note="LRR 6"
FT REPEAT 223..244
FT /note="LRR 7"
FT REPEAT 246..267
FT /note="LRR 8"
FT REPEAT 269..290
FT /note="LRR 9"
FT COILED 10..47
FT /evidence="ECO:0000255"
FT VAR_SEQ 318..335
FT /note="DHQVNGSTTLPISINTDG -> ALQFCVCHGQILTIYTCMALEI (in
FT isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_017913"
FT VARIANT 121
FT /note="I -> L (in dbSNP:rs34920283)"
FT /id="VAR_034087"
SQ SEQUENCE 335 AA; 38793 MW; BAACA9D75FE5B7A3 CRC64;
MTENVVCTGA VNAVKEVWEK RIKKLNEDLK REKEFQHKLV RIWEERVSLT KLREKVTRED
GRVILKIEKE EWKTLPSSLL KLNQLQEWQL HRTGLLKIPE FIGRFQNLIV LDLSRNTISE
IPPGIGLLTR LQELILSYNK IKTVPKELSN CASLEKLELA VNRDICDLPQ ELSNLLKLTH
LDLSMNDFTT IPLAVLNMPA LEWLDMGSNK LEQLPDTIER MQNLHTLWLQ RNEITCLPQT
ISNMKNLGTL VLSNNKLQDI PVCMEEMANL RFVNFRDNPL KLKVSLPPSE GTDEEEEREL
FGLQFMHTYI QESRRRADHQ VNGSTTLPIS INTDG
