MYBPH_HUMAN
ID MYBPH_HUMAN Reviewed; 477 AA.
AC Q13203; Q16886; Q86YC5;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 4.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Myosin-binding protein H;
DE Short=MyBP-H;
DE AltName: Full=H-protein;
GN Name=MYBPH;
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 [GENOMIC DNA / MRNA], AND VARIANTS HIS-48 AND GLY-49.
RC TISSUE=Skeletal muscle;
RX PubMed=8486381; DOI=10.1006/geno.1993.1136;
RA Vaughan K.T., Weber F.E., Ried T., Ward D.C., Reinach F.C., Fischman D.A.;
RT "Human myosin-binding protein H (MyBP-H): complete primary sequence,
RT genomic organization, and chromosomal localization.";
RL Genomics 16:34-40(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS HIS-48 AND GLY-49.
RA Whittle M.R., Fischman D.A., Reinach F.C.;
RT "Sequence of human myosin binding protein H gene.";
RL Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
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 [4]
RP TISSUE SPECIFICITY.
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).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=31292467; DOI=10.1038/s41598-019-46123-w;
RA Lahm H., Dressen M., Beck N., Doppler S., Deutsch M.A., Matsushima S.,
RA Neb I., Koenig K.C., Sideris K., Voss S., Eschenbach L., Puluca N.,
RA Deisenhofer I., Doll S., Holdenrieder S., Mann M., Lange R., Krane M.;
RT "Myosin binding protein H-like (MYBPHL): a promising biomarker to predict
RT atrial damage.";
RL Sci. Rep. 9:9986-9986(2019).
CC -!- FUNCTION: Binds to myosin; probably involved in interaction with thick
CC myofilaments in the A-band.
CC -!- INTERACTION:
CC Q13203; Q13464: ROCK1; NbExp=2; IntAct=EBI-5655165, EBI-876651;
CC Q13203; Q8WZ42: TTN; NbExp=3; IntAct=EBI-5655165, EBI-681210;
CC Q13203; F1PU60: ROCK1; Xeno; NbExp=2; IntAct=EBI-5655165, EBI-7547361;
CC -!- TISSUE SPECIFICITY: Mainly expressed in the skeletal muscle. Slightly
CC expressed in the left atrium and arteria mammaria interna.
CC {ECO:0000269|PubMed:28778945, ECO:0000269|PubMed:31292467}.
CC -!- SIMILARITY: Belongs to the immunoglobulin superfamily. MyBP family.
CC {ECO:0000305}.
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DR EMBL; L05606; AAA36339.1; -; mRNA.
DR EMBL; L05607; AAA02904.2; -; Genomic_DNA.
DR EMBL; U27266; AAB86737.1; -; Genomic_DNA.
DR EMBL; BC044226; AAH44226.1; -; mRNA.
DR CCDS; CCDS30975.1; -.
DR PIR; A46118; A46118.
DR RefSeq; NP_004988.2; NM_004997.2.
DR AlphaFoldDB; Q13203; -.
DR BioGRID; 110693; 9.
DR IntAct; Q13203; 9.
DR MINT; Q13203; -.
DR STRING; 9606.ENSP00000255416; -.
DR iPTMnet; Q13203; -.
DR PhosphoSitePlus; Q13203; -.
DR BioMuta; MYBPH; -.
DR DMDM; 116242667; -.
DR MassIVE; Q13203; -.
DR PaxDb; Q13203; -.
DR PeptideAtlas; Q13203; -.
DR PRIDE; Q13203; -.
DR ProteomicsDB; 59223; -.
DR Antibodypedia; 34541; 214 antibodies from 27 providers.
DR DNASU; 4608; -.
DR Ensembl; ENST00000255416.9; ENSP00000255416.4; ENSG00000133055.10.
DR GeneID; 4608; -.
DR KEGG; hsa:4608; -.
DR MANE-Select; ENST00000255416.9; ENSP00000255416.4; NM_004997.3; NP_004988.2.
DR UCSC; uc001gzh.2; human.
DR CTD; 4608; -.
DR DisGeNET; 4608; -.
DR GeneCards; MYBPH; -.
DR HGNC; HGNC:7552; MYBPH.
DR HPA; ENSG00000133055; Tissue enhanced (salivary gland, skeletal muscle, tongue).
DR MIM; 160795; gene.
DR neXtProt; NX_Q13203; -.
DR OpenTargets; ENSG00000133055; -.
DR PharmGKB; PA31352; -.
DR VEuPathDB; HostDB:ENSG00000133055; -.
DR eggNOG; ENOG502QVIQ; Eukaryota.
DR GeneTree; ENSGT00940000158040; -.
DR HOGENOM; CLU_037185_0_0_1; -.
DR InParanoid; Q13203; -.
DR OMA; AHIQKTD; -.
DR OrthoDB; 653839at2759; -.
DR PhylomeDB; Q13203; -.
DR TreeFam; TF334735; -.
DR PathwayCommons; Q13203; -.
DR SignaLink; Q13203; -.
DR BioGRID-ORCS; 4608; 10 hits in 1070 CRISPR screens.
DR GenomeRNAi; 4608; -.
DR Pharos; Q13203; Tbio.
DR PRO; PR:Q13203; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q13203; protein.
DR Bgee; ENSG00000133055; Expressed in gastrocnemius and 96 other tissues.
DR ExpressionAtlas; Q13203; baseline and differential.
DR Genevisible; Q13203; HS.
DR GO; GO:0032982; C:myosin filament; IEA:UniProtKB-KW.
DR GO; GO:0008307; F:structural constituent of muscle; TAS:ProtInc.
DR GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW.
DR GO; GO:0006942; P:regulation of striated muscle contraction; TAS:ProtInc.
DR CDD; cd00063; FN3; 2.
DR Gene3D; 2.60.40.10; -; 4.
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; 2.
DR Pfam; PF07679; I-set; 2.
DR SMART; SM00060; FN3; 2.
DR SMART; SM00409; IG; 2.
DR SMART; SM00408; IGc2; 2.
DR SUPFAM; SSF48726; SSF48726; 2.
DR SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50853; FN3; 2.
DR PROSITE; PS50835; IG_LIKE; 2.
PE 1: Evidence at protein level;
KW Cell adhesion; Immunoglobulin domain; Muscle protein; Phosphoprotein;
KW Reference proteome; Repeat; Thick filament.
FT CHAIN 1..477
FT /note="Myosin-binding protein H"
FT /id="PRO_0000072698"
FT DOMAIN 73..168
FT /note="Fibronectin type-III 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 172..260
FT /note="Ig-like C2-type 1"
FT DOMAIN 269..364
FT /note="Fibronectin type-III 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 382..466
FT /note="Ig-like C2-type 2"
FT REGION 1..73
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 6
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:O88599"
FT MOD_RES 26
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:O88599"
FT VARIANT 48
FT /note="Q -> H (in dbSNP:rs2788532)"
FT /evidence="ECO:0000269|PubMed:8486381, ECO:0000269|Ref.2"
FT /id="VAR_028181"
FT VARIANT 49
FT /note="A -> G (in dbSNP:rs2791721)"
FT /evidence="ECO:0000269|PubMed:8486381, ECO:0000269|Ref.2"
FT /id="VAR_028182"
FT VARIANT 114
FT /note="A -> G (in dbSNP:rs2642531)"
FT /id="VAR_028183"
FT CONFLICT 149..150
FT /note="SS -> RP (in Ref. 2; AAB86737)"
FT /evidence="ECO:0000305"
FT CONFLICT 271..272
FT /note="SS -> CC (in Ref. 2; AAB86737)"
FT /evidence="ECO:0000305"
FT CONFLICT 406..411
FT /note="RASPKP -> ELHQA (in Ref. 1; AAA36339)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 477 AA; 52050 MW; 2246862478EAF033 CRC64;
MMEKNTSEGP ACSPEETASE SAKVPTAEPP GEVAVSESTR EEQVPKPQAP APQAPTASTA
TKPAPPSEDV PSAPLLLTLD DVSSSSVTVS WEPPERLGRL GLQGYVLELC REGASEWVPV
SARPMMVTQQ TVRNLALGDK FLLRVSAVSS AGAGPPAMLD QPIHIRENIE APKIRVPRHL
RQTYIRQVGE TVNLQIPFQG KPKPQATWTH NGHALDSQRV SMRTGDQDSI LFIRSAQRSD
SGRYELTVRV EDLEAKAVID ILVIEKPGPP SSIRLLDVWG CNAALQWTPP QDTGNTELLG
YMVQKADKKT GQWFTVLERY HPTTCTISDL IIGNSYSFRV FSENLCGLST SATVTKELAH
IQKADIAAKP KGFIERDFSE APSFTQPLAD HTSTPGYSTQ LFCSVRASPK PKIIWMKNKM
EIQGNPKYRA LSEQGVCTLE IRKPSPFDSG VYTCKAINVL GEASVDCRLE VKASAAH
