MBPHL_HUMAN
ID MBPHL_HUMAN Reviewed; 354 AA.
AC A2RUH7; B7ZME5; Q5T2Z7;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Myosin-binding protein H-like {ECO:0000305};
GN Name=MYBPHL {ECO:0000312|HGNC:HGNC:30434};
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ASN-269.
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ASN-269.
RC TISSUE=Lung;
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 VARIANT 255-ARG--ASN-355 DEL, CHARACTERIZATION OF VARIANT 255-ARG--ASN-355
RP DEL, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND FUNCTION.
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: 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 -!- INTERACTION:
CC A2RUH7; P27797: CALR; NbExp=3; IntAct=EBI-9088235, EBI-1049597;
CC A2RUH7; P55212: CASP6; NbExp=3; IntAct=EBI-9088235, EBI-718729;
CC A2RUH7; Q15078: CDK5R1; NbExp=3; IntAct=EBI-9088235, EBI-746189;
CC A2RUH7; P36957: DLST; NbExp=3; IntAct=EBI-9088235, EBI-351007;
CC A2RUH7; Q13643: FHL3; NbExp=3; IntAct=EBI-9088235, EBI-741101;
CC A2RUH7; P14136: GFAP; NbExp=6; IntAct=EBI-9088235, EBI-744302;
CC A2RUH7; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-9088235, EBI-1055254;
CC A2RUH7; P13473-2: LAMP2; NbExp=3; IntAct=EBI-9088235, EBI-21591415;
CC A2RUH7; Q96EH3: MALSU1; NbExp=3; IntAct=EBI-9088235, EBI-2339737;
CC A2RUH7; Q8TDX7: NEK7; NbExp=3; IntAct=EBI-9088235, EBI-1055945;
CC A2RUH7; P62826: RAN; NbExp=3; IntAct=EBI-9088235, EBI-286642;
CC A2RUH7; Q05BL1: TP53BP2; NbExp=3; IntAct=EBI-9088235, EBI-11952721;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere
CC {ECO:0000305|PubMed:28778945}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A2RUH7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A2RUH7-2; Sequence=VSP_055601;
CC -!- TISSUE SPECIFICITY: Expressed in heart, with higher expression in the
CC atria. {ECO:0000269|PubMed:28778945, ECO:0000269|PubMed:31292467}.
CC -!- TISSUE SPECIFICITY: [Isoform 1]: Expressed in left atrium and
CC ventricle, arteria mammaria interna and skeletal muscle.
CC {ECO:0000269|PubMed:31292467}.
CC -!- TISSUE SPECIFICITY: [Isoform 2]: Expressed specifically en the left
CC atrium. {ECO:0000269|PubMed:31292467}.
CC -!- SIMILARITY: Belongs to the immunoglobulin superfamily. MyBP family.
CC {ECO:0000305}.
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DR EMBL; AL390252; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471122; EAW56379.1; -; Genomic_DNA.
DR EMBL; BC132900; AAI32901.1; -; mRNA.
DR EMBL; BC132902; AAI32903.1; -; mRNA.
DR EMBL; BC144471; AAI44472.1; -; mRNA.
DR CCDS; CCDS30793.1; -. [A2RUH7-1]
DR RefSeq; NP_001010985.2; NM_001010985.2. [A2RUH7-1]
DR RefSeq; NP_001252542.1; NM_001265613.1. [A2RUH7-2]
DR RefSeq; XP_016856662.1; XM_017001173.1. [A2RUH7-1]
DR RefSeq; XP_016856663.1; XM_017001174.1. [A2RUH7-1]
DR RefSeq; XP_016856664.1; XM_017001175.1. [A2RUH7-2]
DR AlphaFoldDB; A2RUH7; -.
DR SMR; A2RUH7; -.
DR BioGRID; 131240; 13.
DR IntAct; A2RUH7; 18.
DR STRING; 9606.ENSP00000349678; -.
DR PhosphoSitePlus; A2RUH7; -.
DR BioMuta; MYBPHL; -.
DR MassIVE; A2RUH7; -.
DR PaxDb; A2RUH7; -.
DR PeptideAtlas; A2RUH7; -.
DR PRIDE; A2RUH7; -.
DR Antibodypedia; 33754; 70 antibodies from 16 providers.
DR DNASU; 343263; -.
DR Ensembl; ENST00000357155.2; ENSP00000349678.1; ENSG00000221986.7. [A2RUH7-1]
DR GeneID; 343263; -.
DR KEGG; hsa:343263; -.
DR MANE-Select; ENST00000357155.2; ENSP00000349678.1; NM_001010985.3; NP_001010985.2.
DR UCSC; uc001dxk.1; human. [A2RUH7-1]
DR CTD; 343263; -.
DR DisGeNET; 343263; -.
DR GeneCards; MYBPHL; -.
DR HGNC; HGNC:30434; MYBPHL.
DR HPA; ENSG00000221986; Tissue enriched (heart).
DR MIM; 619807; gene.
DR neXtProt; NX_A2RUH7; -.
DR OpenTargets; ENSG00000221986; -.
DR PharmGKB; PA147357579; -.
DR VEuPathDB; HostDB:ENSG00000221986; -.
DR eggNOG; ENOG502QVIQ; Eukaryota.
DR GeneTree; ENSGT00940000162165; -.
DR HOGENOM; CLU_037185_0_0_1; -.
DR InParanoid; A2RUH7; -.
DR OMA; GCALDTR; -.
DR OrthoDB; 653839at2759; -.
DR PhylomeDB; A2RUH7; -.
DR TreeFam; TF334735; -.
DR PathwayCommons; A2RUH7; -.
DR SignaLink; A2RUH7; -.
DR BioGRID-ORCS; 343263; 20 hits in 1067 CRISPR screens.
DR ChiTaRS; MYBPHL; human.
DR GenomeRNAi; 343263; -.
DR Pharos; A2RUH7; Tdark.
DR PRO; PR:A2RUH7; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; A2RUH7; protein.
DR Bgee; ENSG00000221986; Expressed in right atrium auricular region and 87 other tissues.
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; IEA:Ensembl.
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; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Disulfide bond; Immunoglobulin domain;
KW Methylation; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..354
FT /note="Myosin-binding protein H-like"
FT /id="PRO_0000330019"
FT DOMAIN 45..139
FT /note="Ig-like C2-type 1"
FT DOMAIN 148..238
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 261..345
FT /note="Ig-like C2-type 2"
FT REGION 1..47
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 38
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5PQM4"
FT MOD_RES 321
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q5FW53"
FT DISULFID 282..333
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VAR_SEQ 121..143
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055601"
FT VARIANT 255..354
FT /note="Missing (probable disease-associated variant found
FT in a family with dilated cardiomyopathy and atrial and
FT ventricular arrhythmias; subject to nonsense-mediated
FT decay; disrupted myosin-binding)"
FT /evidence="ECO:0000269|PubMed:28778945"
FT /id="VAR_083211"
FT VARIANT 269
FT /note="D -> N (in dbSNP:rs629001)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2"
FT /id="VAR_042686"
SQ SEQUENCE 354 AA; 38733 MW; 6DD100AAC995587C CRC64;
MEAATAPEVA AGSKLKVKEA SPADAEPPQA SPGQGAGSPT PQLLPPIEEH PKIWLPRALR
QTYIRKVGDT VNLLIPFQGK PKPQAIWTHD GCALDTRRVS VRNGEQDSIL FIREAQRADS
GRYQLRVQLG GLEATATIDI LVIERPGPPQ SIKLVDVWGF SATLEWTPPQ DTGNTALLGY
TVQKADTKSG LWFTVLEHYH RTSCIVSDLI IGNSYAFRVF AENQCGLSET APITTDLAHI
QKAATVYKTK GFAQRDFSEA PKFTQPLADC TTVTGYNTQL FCCVRASPRP KIIWLKNKMD
IQGNPKYRAL THLGICSLEI RKPGPFDGGI YTCKAVNPLG EASVDCRVDV KVPN
