Gene Symbol | MYBPH |
Entrez Gene ID | 4608 |
Full Name | myosin binding protein H |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Disorder MIM: |
ORF » Species Summary » Homo sapiens » MYBPH cDNA ORF clone
Gene Symbol | MYBPH |
Entrez Gene ID | 4608 |
Full Name | myosin binding protein H |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Disorder MIM: |
mRNA | Protein | Name |
---|---|---|
XM_005245196.3 | XP_005245253.1 | myosin-binding protein H isoform X1 |
NM_004997.3 | NP_004988.2 | myosin-binding protein H |
NM_004997.2 | NP_004988.2 | myosin-binding protein H |
Homo sapiens (human) | MYBPH | NP_004988.2 |
Canis lupus familiaris (dog) | MYBPH | XP_005622215.1 |
Mus musculus (house mouse) | Mybph | NP_058029.2 |
Rattus norvegicus (Norway rat) | Mybph | NP_114001.1 |
MYBPH | XP_001103823.1 | |
Pan troglodytes (chimpanzee) | MYBPH | XP_514110.2 |
Gallus gallus (chicken) | MYBPH | NP_001026199.1 |
Xenopus tropicalis (tropical clawed frog) | mybph | NP_001039258.1 |
Bos taurus (cattle) | MYBPH | NP_001068903.1 |
Danio rerio (zebrafish) | mybpha | NP_956852.1 |
Danio rerio (zebrafish) | mybphb | NP_001093607.1 |
MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.
Mouton JM, van der Merwe L, Goosen A, Revera M, Brink PA, Moolman-Smook JC, Kinnear C
Human genetics135(5)477-83(2016 May)
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L, Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K, Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, Dettling M, Gazit E, Goff DC, Holden AL, Kelly DL, Malhotra AK, Nielsen J, Pirmohamed M, Rujescu D, Werge T, Levy DL, Josiassen RC, Kennedy JL, Lieberman JA, Daly MJ, Sullivan PF
Nature communications54757(2014 Sep)
Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients.
Conti A, Riva N, Pesca M, Iannaccone S, Cannistraci CV, Corbo M, Previtali SC, Quattrini A, Alessio M
Biochimica et biophysica acta1842(1)99-106(2014 Jan)
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
Blandin G, Marchand S, Charton K, Dani?le N, Gicquel E, Boucheteil JB, Bentaib A, Barrault L, Stockholm D, Bartoli M, Richard I
Skeletal muscle3(1)3(2013 Feb)
MYBPH inhibits NM IIA assembly via direct interaction with NMHC IIA and reduces cell motility.
Hosono Y, Usukura J, Yamaguchi T, Yanagisawa K, Suzuki M, Takahashi T
Biochemical and biophysical research communications428(1)173-8(2012 Nov)
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.
The following MYBPH gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the MYBPH cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
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CloneID | OHu14091 | |
Clone ID Related Accession (Same CDS sequence) | XM_005245196.3 , NM_004997.3 , NM_004997.2 | |
Accession Version | NM_004997.3 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1434bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | User Manual |
Clone information | Clone Map | MSDS |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-12-30 | |
Organism | Homo sapiens(human) | |
Product | myosin-binding protein H | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC105940.2, BC044226.1 and L05606.1. On Nov 22, 2018 this sequence version replaced NM_004997.2. ##Evidence-Data-START## Transcript exon combination :: BC044226.1, ERR279855.2663.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000255416.9/ ENSP00000255416.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length. |
1 | ATGATGGAAA AAAACACCTC CGAGGGCCCT GCCTGCAGTC CAGAGGAGAC CGCATCTGAA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_004988.2 |
CDS | 72..1505 |
Translation |
Target ORF information:
Target ORF information:
|
NM_004997.3 |
1 | ATGATGGAAA AAAACACCTC CGAGGGCCCT GCCTGCAGTC CAGAGGAGAC CGCATCTGAA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu14091 | |
Clone ID Related Accession (Same CDS sequence) | XM_005245196.3 , NM_004997.3 , NM_004997.2 | |
Accession Version | NM_004997.2 | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1434bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | User Manual |
Clone information | Clone Map | MSDS |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2017-09-30 | |
Organism | Homo sapiens(human) | |
Product | myosin-binding protein H | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC044226.1 and L05606.1. On Nov 22, 2004 this sequence version replaced NM_004997.1. ##Evidence-Data-START## Transcript exon combination :: BC044226.1, ERR279855.2663.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGATGGAAA AAAACACCTC CGAGGGCCCT GCCTGCAGTC CAGAGGAGAC CGCATCTGAA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_004988.2 |
CDS | 60..1493 |
Translation |
Target ORF information:
Target ORF information:
|
NM_004997.2 |
1 | ATGATGGAAA AAAACACCTC CGAGGGCCCT GCCTGCAGTC CAGAGGAGAC CGCATCTGAA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu14091 | |
Clone ID Related Accession (Same CDS sequence) | XM_005245196.3 , NM_004997.3 , NM_004997.2 | |
Accession Version | XM_005245196.3 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1434bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | User Manual |
Clone information | Clone Map | MSDS |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2015-03-11 | |
Organism | Homo sapiens(Human) | |
Product | myosin-binding protein H isoform X1 | |
Comment |
1 | ATGATGGAAA AAAACACCTC CGAGGGCCCT GCCTGCAGTC CAGAGGAGAC CGCATCTGAA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | XP_005245253.1 |
Translation |
Target ORF information:
Target ORF information:
|
XM_005245196.3 |
1 | ATGATGGAAA AAAACACCTC CGAGGGCCCT GCCTGCAGTC CAGAGGAGAC CGCATCTGAA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients. |
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. |
Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients. |
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. |
MYBPH inhibits NM IIA assembly via direct interaction with NMHC IIA and reduces cell motility. |