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

Gene ID: 343263, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109292365..109307011, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109325168..109339817, complement)
105.20220307 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)

Genotypes

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_2023_10

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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