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

Summary

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, Apr 2022]
Expression: Restricted expression toward heart adult (RPKM 87.9) See more
Orthologs: human all
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Genomic context

Location:: 3; 3 F3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109	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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2)
Endonuclease-mediated (2)

General gene information

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Homology

Homologs of the Mybphl gene: The Mybphl gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, and rat.
Orthologs from Annotation Pipeline: 187 organisms have orthologs with human gene Mybphl
Orthologs

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 cytoplasm	IEA Inferred from Electronic Annotation more info
located_in myofilament	IDA Inferred from Direct Assay more info	PubMed
located_in myofilament	ISO Inferred from Sequence Orthology 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)

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