ACTC1 (actin alpha cardiac muscle 1)

2010-03-01 Affiliation

Identity

HGNC

ACTC1

LOCATION

15q14

LOCUSID

ALIAS

ACTC,ASD5,CMD1R,CMH11,LVNC4

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: 70
MIM: 102540
HGNC: 143
Ensembl: ENSG00000159251

Variants:

dbSNP: 70
ClinVar: 70
TCGA: ENSG00000159251
COSMIC: ACTC1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000159251	ENST00000290378	P68032

Expression (GTEx)

500

1000

1500

2000

2500

3000

3500

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
Cardiac muscle contraction	KEGG	hsa04260
Cardiac muscle contraction	KEGG	ko04260
Hypertrophic cardiomyopathy (HCM)	KEGG	ko05410
Hypertrophic cardiomyopathy (HCM)	KEGG	hsa05410
Dilated cardiomyopathy	KEGG	ko05414
Dilated cardiomyopathy	KEGG	hsa05414
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association
PA231	LMNA	Gene	DataAnnotation	associated
PA28707	GLA	Gene	DataAnnotation	associated
PA31351	MYBPC3	Gene	DataAnnotation	associated
PA31374	MYH7	Gene	DataAnnotation	associated
PA31380	MYL2	Gene	DataAnnotation	associated
PA31381	MYL3	Gene	DataAnnotation	associated
PA33752	PRKAG2	Gene	DataAnnotation	associated
PA36636	TNNI3	Gene	DataAnnotation	associated
PA36638	TNNT2	Gene	DataAnnotation	associated
PA36690	TPM1	Gene	DataAnnotation	associated
PA443632	Cardiomyopathy, Dilated	Disease	DataAnnotation	associated
PA443633	Cardiomyopathy, Hypertrophic	Disease	DataAnnotation	associated

References

Pubmed ID	Year	Title	Citations
18403758	2008	Shared genetic causes of cardiac hypertrophy in children and adults.	100
20835239	2010	A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.	89
20835239	2010	A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.	89
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
18506004	2008	Mutations in sarcomere protein genes in left ventricular noncompaction.	75
18506004	2008	Mutations in sarcomere protein genes in left ventricular noncompaction.	75
16199542	2005	Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.	73
20359594	2010	Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.	65
20031618	2009	Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.	52
17611253	2007	Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.	49

Citation

Dessen P

ACTC1 (actin alpha cardiac muscle 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51388/actc1