MBPHL_MOUSE
ID MBPHL_MOUSE Reviewed; 355 AA.
AC Q5FW53;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-OCT-2005, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Myosin-binding protein H-like {ECO:0000305};
GN Name=Mybphl {ECO:0000312|MGI:MGI:1916003};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, and Heart;
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 [3]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-322, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain;
RX PubMed=24129315; DOI=10.1074/mcp.o113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M.,
RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
RN [4]
RP FUNCTION, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, AND SUBCELLULAR
RP LOCATION.
RX PubMed=28778945; DOI=10.1161/circulationaha.117.028585;
RA Barefield D.Y., Puckelwartz M.J., Kim E.Y., Wilsbacher L.D., Vo A.H.,
RA Waters E.A., Earley J.U., Hadhazy M., Dellefave-Castillo L., Pesce L.L.,
RA McNally E.M.;
RT "Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament
RT Component in Arrhythmia and Dilated Cardiomyopathy.";
RL Circulation 136:1477-1491(2017).
CC -!- FUNCTION: Myosin-binding protein which plays a role in cardiac function
CC (PubMed:28778945). Seems to regulate conduction in the atria and
CC ventricular conduction systems (PubMed:28778945).
CC {ECO:0000269|PubMed:28778945}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere
CC {ECO:0000269|PubMed:28778945}.
CC -!- TISSUE SPECIFICITY: Expressed in the atria as well as in discrete
CC puncta throughout the right ventricular wall and septum.
CC {ECO:0000269|PubMed:28778945}.
CC -!- DISRUPTION PHENOTYPE: Knockout mouse hearts exhibit a 36% reduction in
CC fractional shortening and an increased diastolic ventricular chamber
CC size (PubMed:28778945). Mutants show cardiac conduction system
CC abnormalities with aberrant atrioventricular conduction and an
CC increased rate of arrhythmia (PubMed:28778945).
CC {ECO:0000269|PubMed:28778945}.
CC -!- SIMILARITY: Belongs to the immunoglobulin superfamily. MyBP family.
CC {ECO:0000305}.
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DR EMBL; AL671899; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC089625; AAH89625.1; -; mRNA.
DR EMBL; BC132636; AAI32637.1; -; mRNA.
DR EMBL; BC132638; AAI32639.1; -; mRNA.
DR CCDS; CCDS17757.1; -.
DR RefSeq; NP_081107.1; NM_026831.1.
DR AlphaFoldDB; Q5FW53; -.
DR SMR; Q5FW53; -.
DR STRING; 10090.ENSMUSP00000088051; -.
DR iPTMnet; Q5FW53; -.
DR PhosphoSitePlus; Q5FW53; -.
DR MaxQB; Q5FW53; -.
DR PaxDb; Q5FW53; -.
DR PRIDE; Q5FW53; -.
DR ProteomicsDB; 293421; -.
DR Antibodypedia; 33754; 70 antibodies from 16 providers.
DR DNASU; 68753; -.
DR Ensembl; ENSMUST00000090563; ENSMUSP00000088051; ENSMUSG00000068745.
DR GeneID; 68753; -.
DR KEGG; mmu:68753; -.
DR UCSC; uc008qyt.1; mouse.
DR CTD; 343263; -.
DR MGI; MGI:1916003; Mybphl.
DR VEuPathDB; HostDB:ENSMUSG00000068745; -.
DR eggNOG; ENOG502QVIQ; Eukaryota.
DR GeneTree; ENSGT00940000162165; -.
DR HOGENOM; CLU_037185_0_0_1; -.
DR InParanoid; Q5FW53; -.
DR OMA; GCALDTR; -.
DR OrthoDB; 653839at2759; -.
DR PhylomeDB; Q5FW53; -.
DR TreeFam; TF334735; -.
DR BioGRID-ORCS; 68753; 3 hits in 75 CRISPR screens.
DR PRO; PR:Q5FW53; -.
DR Proteomes; UP000000589; Chromosome 3.
DR RNAct; Q5FW53; protein.
DR Bgee; ENSMUSG00000068745; Expressed in extra-ocular muscle and 16 other tissues.
DR Genevisible; Q5FW53; MM.
DR GO; GO:0036379; C:myofilament; IDA:UniProtKB.
DR GO; GO:0030017; C:sarcomere; IEA:UniProtKB-SubCell.
DR GO; GO:0001701; P:in utero embryonic development; IMP:MGI.
DR CDD; cd00063; FN3; 1.
DR Gene3D; 2.60.40.10; -; 3.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013098; Ig_I-set.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR Pfam; PF00041; fn3; 1.
DR Pfam; PF07679; I-set; 2.
DR SMART; SM00060; FN3; 1.
DR SMART; SM00409; IG; 2.
DR SMART; SM00408; IGc2; 2.
DR SUPFAM; SSF48726; SSF48726; 2.
DR SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50853; FN3; 1.
DR PROSITE; PS50835; IG_LIKE; 2.
PE 1: Evidence at protein level;
KW Cytoplasm; Disulfide bond; Immunoglobulin domain; Methylation;
KW Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..355
FT /note="Myosin-binding protein H-like"
FT /id="PRO_0000330020"
FT DOMAIN 46..140
FT /note="Ig-like C2-type 1"
FT DOMAIN 149..244
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 262..346
FT /note="Ig-like C2-type 2"
FT REGION 1..41
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 39
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5PQM4"
FT MOD_RES 322
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT DISULFID 283..334
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
SQ SEQUENCE 355 AA; 38760 MW; 93D9A32531FF2453 CRC64;
METATTLEIA SCSQRQVEAA ADPADAKGPR TSHQQEAGSP SLQLLPSIEE HPKIWLPRAL
KQTYIRKAGE TVNLLIPIQG KPKPQTTWTH NGCALDSSRV SVRNGEHDSI LFIREAQRTD
SGCYQLCVQL GGLQATATIN ILVIEKPGPP QSIKLVDVWG ANATLEWTPP QDTGNTALLG
YTVQKADKKS GLWFTVLERY HRTSCVVSNL IVGNSYAFRV FAENQCGLSD TAPVTADLAH
IQKAATVYKA KGFAQRDLSE APKFTQPLAD CTTVTGYDTQ LFCCVRASPR PKIIWLKNKM
DLQGNPKYRA LSQLGICSLE IRKPSPFDGG IYTCKAINAL GEASVDCRVD VKAPH
