Human Gene MYBPH (uc001gzh.1) Description and Page Index
  Description: Homo sapiens myosin binding protein H (MYBPH), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:203,136,939-203,144,942 Size: 8,004 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr1:203,137,787-203,144,883 Size: 7,097 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:203,136,939-203,144,942)mRNA (may differ from genome)Protein (477 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: MYBPH_HUMAN
DESCRIPTION: RecName: Full=Myosin-binding protein H; Short=MyBP-H; AltName: Full=H-protein;
FUNCTION: Binds to myosin; probably involved in interaction with thick myofilaments in the A-band.
INTERACTION: Q8WZ42:TTN; NbExp=3; IntAct=EBI-5655165, EBI-681210;
TISSUE SPECIFICITY: Skeletal muscle.
SIMILARITY: Belongs to the immunoglobulin superfamily. MyBP family.
SIMILARITY: Contains 2 fibronectin type-III domains.
SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MYBPH
CDC HuGE Published Literature: MYBPH

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.13 RPKM in Muscle - Skeletal
Total median expression: 14.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.7059-0.198 Picture PostScript Text
3' UTR -128.80313-0.412 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
49265 - Fibronectin type III

ModBase Predicted Comparative 3D Structure on Q13203
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008307 structural constituent of muscle
GO:0051015 actin filament binding
GO:0051371 muscle alpha-actinin binding
GO:0097493 structural molecule activity conferring elasticity

Biological Process:
GO:0006942 regulation of striated muscle contraction
GO:0007015 actin filament organization
GO:0007155 cell adhesion
GO:0045214 sarcomere organization
GO:0071688 striated muscle myosin thick filament assembly

Cellular Component:
GO:0005859 muscle myosin complex
GO:0030018 Z disc
GO:0031430 M band
GO:0032982 myosin filament


-  Descriptions from all associated GenBank mRNAs
  L05606 - Human myosin binding protein H mRNA, complete cds.
BC044226 - Homo sapiens myosin binding protein H, mRNA (cDNA clone MGC:50684 IMAGE:6176021), complete cds.
JD272716 - Sequence 253740 from Patent EP1572962.
JD135385 - Sequence 116409 from Patent EP1572962.
JD393981 - Sequence 375005 from Patent EP1572962.
JD400191 - Sequence 381215 from Patent EP1572962.
JD476975 - Sequence 457999 from Patent EP1572962.
JD354173 - Sequence 335197 from Patent EP1572962.
KJ897214 - Synthetic construct Homo sapiens clone ccsbBroadEn_06608 MYBPH gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: MYBPH_HUMAN, NM_004997, NP_004988, Q13203, Q16886, Q86YC5
UCSC ID: uc001gzh.1
RefSeq Accession: NM_004997
Protein: Q13203 (aka MYBPH_HUMAN or MYPH_HUMAN)
CCDS: CCDS30975.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004997.2
exon count: 11CDS single in 3' UTR: no RNA size: 1806
ORF size: 1434CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3068.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.