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    MYBPH myosin binding protein H [ Homo sapiens (human) ]

    Gene ID: 4608, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MYBPHprovided by HGNC
    Official Full Name
    myosin binding protein Hprovided by HGNC
    Primary source
    HGNC:HGNC:7552
    See related
    Ensembl:ENSG00000133055 MIM:160795; AllianceGenome:HGNC:7552
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be a structural constituent of muscle. Predicted to be involved in sarcomere organization. Predicted to be located in myosin filament. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in prostate (RPKM 3.0), kidney (RPKM 0.5) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYBPH in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203167811..203179214, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202430562..202441596, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203136939..203144954, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr1:203056459-203056976 Neighboring gene myogenin promoter associated myogenic regulatory antisense long non coding RNA Neighboring gene myogenin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203096578-203097558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203103311-203104198 Neighboring gene adenosine A1 receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203112572-203113072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203114546-203115227 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:203134798-203134977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203135305-203135815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203135816-203136326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203138876-203139876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203143089-203143618 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:203146536-203147735 Neighboring gene chitinase 3 like 1 Neighboring gene uncharacterized LOC124904485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203184460-203185216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203185217-203185972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203185973-203186728 Neighboring gene chitinase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. variation in MYBPH can modulate the severity of hypertrophy in hypertrophic cardiomyopathy patients.
      Title: MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.
    2. MyBP-H expression signals the onset of dysregulation in actin-myosin interaction; this in turn might contribute to the pathogenesis of amyotrophic lateral sclerosis.
      Title: Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients.
    3. These results suggest that MYBPH inhibits RLC and NMHC IIA, independent components of NM IIA, and negatively regulates actomyosin organization at 2 distinct steps, resulting in firm inhibition of NM IIA assembly.
      Title: MYBPH inhibits NM IIA assembly via direct interaction with NMHC IIA and reduces cell motility.
    4. MYBPH inhibited assembly competence-conferring phosphorylation of the myosin regulatory light chain (RLC) as well as activating phosphorylation of LIM domain kinase, unexpectedly through its direct physical interaction with Rho kinase 1
      Title: MYBPH, a transcriptional target of TTF-1, inhibits ROCK1, and reduces cell motility and metastasis.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of striated muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in M band IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in myosin filament IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myosin-binding protein H
    Names
    H-protein
    myBP-H

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004997.3 → NP_004988.2  myosin-binding protein H

      See identical proteins and their annotated locations for NP_004988.2

      Status: VALIDATED

      Source sequence(s)
      AC105940, BC044226, L05606
      Consensus CDS
      CCDS30975.1
      UniProtKB/Swiss-Prot
      Q13203, Q16886, Q86YC5
      Related
      ENSP00000255416.4, ENST00000255416.9
      Conserved Domains (4) summary
      cd00063
      Location:267 → 355
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:382 → 471
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:191 → 263
      Ig; Immunoglobulin domain
      cl28408
      Location:4 → 69
      UBQ; Ubiquitin homologues

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      203167811..203179214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421205.1 → XP_047277161.1  myosin-binding protein H isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      202430562..202441596 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336733.1 → XP_054192708.1  myosin-binding protein H isoform X1

    2. XM_054336734.1 → XP_054192709.1  myosin-binding protein H isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13203.4 GenPept UniProtKB/Swiss-Prot:Q13203

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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