MYBPC1 (myosin binding protein C1)

2014-08-01 Affiliation

Identity

HGNC

MYBPC1

LOCATION

12q23.2

LOCUSID

4604

ALIAS

LCCS4,MYBPCC,MYBPCS,MYOTREM,ssMyBP-C

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4604
MIM: 160794
HGNC: 7549
Ensembl: ENSG00000196091

Variants:

dbSNP: 4604
ClinVar: 4604
TCGA: ENSG00000196091
COSMIC: MYBPC1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000196091	ENST00000361466	Q00872
ENSG00000196091	ENST00000361685	Q00872
ENSG00000196091	ENST00000392934	Q00872
ENSG00000196091	ENST00000452455	Q00872
ENSG00000196091	ENST00000536007	Q00872
ENSG00000196091	ENST00000541119	Q00872
ENSG00000196091	ENST00000545503	Q00872
ENSG00000196091	ENST00000547405	Q00872
ENSG00000196091	ENST00000547509	F8VZE0
ENSG00000196091	ENST00000549145	F8VZY0
ENSG00000196091	ENST00000550270	Q00872
ENSG00000196091	ENST00000550514	F8W1Z9
ENSG00000196091	ENST00000551300	G3V1V7
ENSG00000196091	ENST00000553190	Q00872

Expression (GTEx)

500

1000

1500

2000

2500

3000

3500

4000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Muscle contraction	REACTOME	R-HSA-397014
Striated Muscle Contraction	REACTOME	R-HSA-390522

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
20045868	2010	Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.	44
16918501	2007	Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod.	28
22610851	2012	Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.	24
26831109	2016	C0 and C1 N-terminal Ig domains of myosin binding protein C exert different effects on thin filament activation.	19
21426302	2011	Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin.	16
12628722	2003	A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.	11
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
25679999	2015	Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.	9

Citation

Dessen P

MYBPC1 (myosin binding protein C1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54481/mybpc1