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
36960733	2023	Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac α-Actin (ACTC1) Gene.	1
37252999	2023	Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.	4
37457373	2023	Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.	2
36960733	2023	Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac α-Actin (ACTC1) Gene.	1
37252999	2023	Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.	4
37457373	2023	Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.	2
36011517	2022	Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population.	1
36011517	2022	Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population.	1
32359161	2020	Use of a human embryonic stem cell model to discover GABRP, WFDC2, VTCN1 and ACTC1 as markers of early first trimester human trophoblast.	22
32424999	2020	Whole blood ACTB, B2M and GAPDH expression reflects activity of inflammatory bowel disease, advancement of colorectal cancer, and correlates with circulating inflammatory and angiogenic factors: Relevance for real-time quantitative PCR.	6
33049292	2020	The Dark Side of Actin: Cardiac actin variants highlight the role of allostery in disease development.	1
32359161	2020	Use of a human embryonic stem cell model to discover GABRP, WFDC2, VTCN1 and ACTC1 as markers of early first trimester human trophoblast.	22
32424999	2020	Whole blood ACTB, B2M and GAPDH expression reflects activity of inflammatory bowel disease, advancement of colorectal cancer, and correlates with circulating inflammatory and angiogenic factors: Relevance for real-time quantitative PCR.	6
33049292	2020	The Dark Side of Actin: Cardiac actin variants highlight the role of allostery in disease development.	1
31430208	2019	Cardiac α-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy.	18

Citation

Dessen P

ACTC1 (actin alpha cardiac muscle 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51388/css/css/lib/dataTables.bootstrap.min.css