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Mybphl myosin binding protein H-like [ Mus musculus (house mouse) ]

Gene ID: 68753, updated on 27-Nov-2024

Summary

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Official Symbol
Mybphlprovided by MGI
Official Full Name
myosin binding protein H-likeprovided by MGI
Primary source
MGI:MGI:1916003
See related
Ensembl:ENSMUSG00000068745 AllianceGenome:MGI:1916003
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1110037P11Rik
Summary
Acts upstream of or within in utero embryonic development. Located in myofilament. Is expressed in heart atrium. Orthologous to human MYBPHL (myosin binding protein H like). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward heart adult (RPKM 87.9) See more
Orthologs
human all
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Genomic context

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See Mybphl in Genome Data Viewer
Location:
3 F3; 3 46.98 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (108272227..108287373)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (108364911..108380057)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_08682 Neighboring gene proteasome subunit alpha 5 Neighboring gene predicted gene, 19343 Neighboring gene STARR-seq mESC enhancer starr_08684 Neighboring gene sortilin 1 Neighboring gene STARR-seq mESC enhancer starr_08685 Neighboring gene STARR-positive B cell enhancer ABC_E2094 Neighboring gene predicted gene 12522 Neighboring gene proline/serine-rich coiled-coil 1 Neighboring gene cadherin, EGF LAG seven-pass G-type receptor 2 Neighboring gene predicted gene, 52630

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Partial and complete loss of myosin binding protein H-like cause cardiac conduction defects. Barefield DY, et al. J Mol Cell Cardiol, 2022 Aug. PMID 35533732, Free PMC Article
  2. 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
  3. Histone deacetylase 3 modulates Tbx5 activity to regulate early cardiogenesis. Lewandowski SL, et al. Hum Mol Genet, 2014 Jul 15. PMID 24565863, Free PMC Article
  4. A staging system for correct phenotype interpretation of mouse embryos harvested on embryonic day 14 (E14.5). Geyer SH, et al. J Anat, 2017 May. PMID 28185240, Free PMC Article
  5. Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wilson R, et al. Wellcome Open Res, 2016. PMID 27996060, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Partial and complete loss of myosin binding protein H-like cause cardiac conduction defects.
    Title: Partial and complete loss of myosin binding protein H-like cause cardiac conduction defects.
  2. Report reduced ventricular function and conduction system defects in Mybphl knockout mice.
    Title: Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (2) 

General gene information

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Markers

Homology

Clone Names

  • MGC107699

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in myofilament IDA
Inferred from Direct Assay
more info
 PubMed 
located_in myofilament ISO
Inferred from Sequence Orthology
more info
  
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.

mRNA and Protein(s)

  1. NM_026831.1 → NP_081107.1  myosin-binding protein H-like

    See identical proteins and their annotated locations for NP_081107.1

    Status: VALIDATED

    Source sequence(s)
    AK004148, BC089625, BY704393
    Consensus CDS
    CCDS17757.1
    UniProtKB/Swiss-Prot
    Q5FW53
    Related
    ENSMUSP00000088051.6, ENSMUST00000090563.7
    Conserved Domains (5) summary
    cd00096
    Location:281 → 345
    Ig; Immunoglobulin domain
    smart00410
    Location:62 → 143
    IG_like; Immunoglobulin like
    cd00063
    Location:147 → 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:262 → 351
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:71 → 143
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    108272227..108287373
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5FW53.1 GenPept UniProtKB/Swiss-Prot:Q5FW53

Gene LinkOut

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