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

Gene ID: 4608, updated on 5-Aug-2022

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
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Genomic context

See MYBPH in Genome Data Viewer
Location:
1q32.1
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203167811..203179214, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202430562..202438579, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203136939..203144954, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene myogenin promoter associated myogenic regulatory antisense long non coding RNA Neighboring gene myogenin Neighboring gene adenosine A1 receptor Neighboring gene chitinase 3 like 1 Neighboring gene uncharacterized LOC124904485 Neighboring gene chitinase 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 
Component Evidence Code Pubs
located_in myosin filament IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

  1. NM_004997.3NP_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, Q86YC5
    Related
    ENSP00000255416.4, ENST00000255416.9
    Conserved Domains (4) summary
    cd00063
    Location:267355
    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:382471
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:191263
    Ig; Immunoglobulin domain
    cl28408
    Location:469
    UBQ; Ubiquitin homologues

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    203167811..203179214 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421205.1XP_047277161.1  myosin-binding protein H isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    202430562..202438579 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)