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    MYBPHL myosin binding protein H like [ Homo sapiens (human) ]

    Gene ID: 343263, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MYBPHLprovided by HGNC
    Official Full Name
    myosin binding protein H likeprovided by HGNC
    Primary source
    HGNC:HGNC:30434
    See related
    Ensembl:ENSG00000221986 MIM:619807; AllianceGenome:HGNC:30434
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
    Expression
    Restricted expression toward heart (RPKM 11.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See MYBPHL in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109292365..109307011, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109325168..109339817, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109834987..109849633, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109791478-109792198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1145 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:109793618-109793808 Neighboring gene VISTA enhancer hs2216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109802367-109802915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109803429-109803928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109806365-109807347 Neighboring gene cadherin EGF LAG seven-pass G-type receptor 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:109807766-109807952 Neighboring gene VISTA enhancer hs2263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109820047-109820796 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109826136-109826861 Neighboring gene proline and serine rich coiled-coil 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109839316-109839887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109842955-109843465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109843466-109843975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109849151-109849890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109849891-109850629 Neighboring gene MPRA-validated peak354 silencer Neighboring gene sortilin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1149 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:109940693-109941674 Neighboring gene proteasome 20S subunit alpha 5

    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
    • 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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    Related articles in PubMed

    1. A proof-of-concept study for the pathogenetic role of enhancer hypomethylation of MYBPHL in multiple myeloma. Wong KY, et al. Sci Rep, 2021 Mar 26. PMID 33772052, Free PMC Article
    2. Myosin binding protein H-like (MYBPHL): a promising biomarker to predict atrial damage. Lahm H, et al. Sci Rep, 2019 Jul 10. PMID 31292467, Free PMC Article
    3. Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy. Barefield DY, et al. Circulation, 2017 Oct 17. PMID 28778945, Free PMC Article
    4. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article
    5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A proof-of-concept study for the pathogenetic role of enhancer hypomethylation of MYBPHL in multiple myeloma.
      Title: A proof-of-concept study for the pathogenetic role of enhancer hypomethylation of MYBPHL in multiple myeloma.
    2. Myosin binding protein H-like (MYBPHL): a promising biomarker to predict atrial damage.
      Title: Myosin binding protein H-like (MYBPHL): a promising biomarker to predict atrial damage.
    3. MYBPHL truncations may increase risk for human arrhythmias and cardiomyopathy.
      Title: Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in myofilament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcomere IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myosin-binding protein H-like

    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.

    Genomic

    1. NG_032757.1 RefSeqGene

      Range
      5031..19677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001010985.3 → NP_001010985.2  myosin-binding protein H-like isoform 1

      See identical proteins and their annotated locations for NP_001010985.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AK129834, AL390252, BC132900
      Consensus CDS
      CCDS30793.1
      UniProtKB/Swiss-Prot
      A2RUH7, B7ZME5, Q5T2Z7
      Related
      ENSP00000349678.1, ENST00000357155.2
      Conserved Domains (5) summary
      cd00096
      Location:280 → 344
      Ig; Immunoglobulin domain
      smart00410
      Location:61 → 142
      IG_like; Immunoglobulin like
      cd00063
      Location:146 → 235
      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:261 → 350
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:70 → 142
      Ig; Immunoglobulin domain

    2. NM_001265613.2 → NP_001252542.1  myosin-binding protein H-like isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AL390252, BC144471
      UniProtKB/Swiss-Prot
      A2RUH7
      Conserved Domains (4) summary
      cd00096
      Location:257 → 321
      Ig; Immunoglobulin domain
      cd00063
      Location:123 → 212
      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:238 → 327
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:70 → 120
      Ig; Immunoglobulin domain

    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
      109292365..109307011 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001175.2 → XP_016856664.1  myosin-binding protein H-like isoform X2

      UniProtKB/Swiss-Prot
      A2RUH7
      Conserved Domains (4) summary
      cd00096
      Location:257 → 321
      Ig; Immunoglobulin domain
      cd00063
      Location:123 → 212
      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:238 → 327
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:70 → 120
      Ig; Immunoglobulin domain

    2. XM_017001173.2 → XP_016856662.1  myosin-binding protein H-like isoform X1

      UniProtKB/Swiss-Prot
      A2RUH7, B7ZME5, Q5T2Z7
      Conserved Domains (5) summary
      cd00096
      Location:280 → 344
      Ig; Immunoglobulin domain
      smart00410
      Location:61 → 142
      IG_like; Immunoglobulin like
      cd00063
      Location:146 → 235
      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:261 → 350
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:70 → 142
      Ig; Immunoglobulin domain

    3. XM_017001174.2 → XP_016856663.1  myosin-binding protein H-like isoform X1

      UniProtKB/Swiss-Prot
      A2RUH7, B7ZME5, Q5T2Z7
      Conserved Domains (5) summary
      cd00096
      Location:280 → 344
      Ig; Immunoglobulin domain
      smart00410
      Location:61 → 142
      IG_like; Immunoglobulin like
      cd00063
      Location:146 → 235
      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:261 → 350
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:70 → 142
      Ig; Immunoglobulin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      109325168..109339817 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336351.1 → XP_054192326.1  myosin-binding protein H-like isoform X2

    2. XM_054336349.1 → XP_054192324.1  myosin-binding protein H-like isoform X1

    3. XM_054336350.1 → XP_054192325.1  myosin-binding protein H-like isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2RUH7.2 GenPept UniProtKB/Swiss-Prot:A2RUH7

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