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

Summary

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 regulation of striated muscle contraction. Predicted to be located in myosin filament. [provided by Alliance of Genome Resources, Apr 2022]
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

Location:: 1q32.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (203167811..203179214, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (202430562..202441596, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (203136939..203144954, complement)

Chromosome 1 - NC_000001.11 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: 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?

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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

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

SHGC-76152 (e-PCR)
- UniSTS:40741

RH93718 (e-PCR)
- UniSTS:87955

SHGC-155998 (e-PCR)
- UniSTS:185258

STS-AA025771 (e-PCR)
- UniSTS:29884

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)

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