ACTC1 actin, alpha, cardiac muscle 1 [Homo sapiens] - Gene

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Summary

Official Symbol: ACTC1provided by HGNC
Official Full Name: actin, alpha, cardiac muscle 1provided by HGNC
Primary source: HGNC:143
See related: Ensembl:ENSG00000159251; HPRD:00015; MIM:102540; Vega:OTTHUMG00000129675
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACTC; ASD5; CMD1R; CMH11; LVNC4
Summary: Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 15q14

Sequence :: Chromosome: 15; NC_000015.9 (35080297..35087927, complement)

See ACTC1 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data show that HMGN2 inhibited the attachment of bacteria, and then decreased bacteria-induced ERK1/2 activation and actin polymerization, which might contribute to bacterial internalization into T24 cells.
Title: High-mobility group protein N2 (HMGN2) inhibited the internalization of Klebsiella pneumoniae into cultured bladder epithelial cells.
propose that the ACTC E99K mutation causes higher myofibrillar Ca(2+) sensitivity that is responsible for the sudden cardiac death, apical hypertrophy, and subsequent development of heart failure in humans and mice.
Title: Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
Reduced ACTC1 expression might play a role in the onset of congenital heart defects through induction of cardiomyocyte apoptosis.
Title: Reduced ACTC1 expression might play a role in the onset of congenital heart disease by inducing cardiomyocyte apoptosis.
Variations in ACTC1 is associated with refractive errors and myopia.
Title: A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of genetic testing. (HuGE Navigator)
Title: A novel custom resequencing array for dilated cardiomyopathy.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
E99K inhibits the activation of the thin filament by myosin strong-binding whereas R312H demonstrates enhanced calcium activation.
Title: Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.
Screening of MYH7, cardiac ACTC and TNNI3 genes in dilated cardiomyopathy patients revealed two missense mutations, seven silent mutations, two polymorphisms in MYH7 gene, and two missense mutations and one silent mutation pertaining to TNNI3 gene.
Title: Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population.

Submit: New GeneRIF Correction See all (19)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.

HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	The interaction of the long cytoplasmic tail of HIV-1 gp41 with the carboxy-terminal regulatory domain of p115-RhoGEF inhibits p115-mediated actin stress fiber formation and activation of serum response factor (SRF)	PubMed
Tat	tat	In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex	PubMed
	tat	HIV-1 Tat induces actin cytoskeletal rearrangements through p21-activated kinase 1 (PAK1) and downstream activation of the endothelial NADPH oxidase, an effect that is lost by introduction of mutations into the Tat cysteine-rich or basic domains	PubMed
matrix	gag	The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules)	PubMed
retropepsin	gag-pol	Actin, one of the most abundant proteins of the cell, is hydrolyzed by the human immunodeficiency virus type 1 (HIV-1) protease during acute infection of cultured human T lymphocytes	PubMed
	gag-pol	HIV-1 protease cleaves actin in vitro at amino acid residues 66-67, 94-95, and 126-127	PubMed
reverse transcriptase	gag-pol	The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules)	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_005150.1	NP_005177.2	CAPN1	BIND	PubMed	CAPN1 interacts with ACTC.
P68032	O94929	ABLIM3	HPRD	PubMed
P68032	Q8N0Z2	ABRA	HPRD	PubMed
P68032	P60709	ACTB	HPRD	PubMed
P68032	O43707	ACTN4	HPRD	PubMed
P68032	P61160	ACTR2	HPRD	PubMed
P68032	Actin filament associated protein	AFAP1	HPRD	PubMed
P68032	P03950	ANG	HPRD	PubMed
P68032	Q9Y5U8	BRP44L	HPRD	PubMed
P68032	P07384	CAPN1	HPRD	PubMed
P68032	P23528	CFL1	HPRD	PubMed
P68032	P11532	DMD	HPRD	PubMed
P68032	P63167	DYNLL1	HPRD	PubMed
P68032	Q08495	EPB49	HPRD	PubMed
P68032	P15311	EZR	HPRD	PubMed
P68032	Q16658	FSCN1	HPRD	PubMed
P68032	P02774	GC	HPRD	PubMed
P68032	P04792	HSPB1	HPRD	PubMed
P68032	Q6TDP4	KLHL17	HPRD	PubMed
P68032	Q9Y664	KPTN	HPRD	PubMed
P68032	Q14847	LASP1	HPRD	PubMed
P68032	Q96AX9	MIB2	HPRD	PubMed
P68032	Q15746	MYLK	HPRD	PubMed
P68032	Q15149	PLEC	HPRD	PubMed
P68032	Q02156	PRKCE	HPRD	PubMed
P68032	Q9Y6U3	SCIN	HPRD	PubMed
P68032	P02730	SLC4A1	HPRD	PubMed
P68032	Q8NF91	SYNE1	HPRD	PubMed
P68032	Q8WXH0	SYNE2	HPRD	PubMed
P68032	Q59H18	TNNI3K	HPRD	PubMed
P68032	Q12792	TWF1	HPRD	PubMed
P68032	P42768	WAS	HPRD	PubMed
P68032	O43516	WIPF1	HPRD	PubMed
BioGRID:106585	BioGRID:116552	ABLIM3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106585	BioGRID:121895	AFAP1	BioGRID	PubMed	Reconstituted Complex
BioGRID:106585	BioGRID:108403	ESR1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106585	BioGRID:108868	GAPDH	BioGRID	PubMed	Two-hybrid
BioGRID:106585	BioGRID:116830	SYNE2	BioGRID	PubMed	Reconstituted Complex
BioGRID:106585	BioGRID:112734	TADA2A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106585	BioGRID:119276	TNNI3K	BioGRID	PubMed	Two-hybrid
BioGRID:106585	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106585	BioGRID:119509	UCHL5	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IDA Inferred from Direct Assay more info	PubMed
ATPase activity	IDA Inferred from Direct Assay more info	PubMed
myosin binding	IDA Inferred from Direct Assay more info	PubMed
myosin binding	IPI Inferred from Physical Interaction more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
ATP catabolic process	IDA Inferred from Direct Assay more info	PubMed
actin filament-based movement	IDA Inferred from Direct Assay more info	PubMed
actin-myosin filament sliding	IMP Inferred from Mutant Phenotype more info	PubMed
actomyosin structure organization	ISS Inferred from Sequence or Structural Similarity more info
apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
cardiac muscle contraction	IEA Inferred from Electronic Annotation more info
cardiac muscle tissue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
cardiac myofibril assembly	ISS Inferred from Sequence or Structural Similarity more info
heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
muscle filament sliding	TAS Traceable Author Statement more info
response to drug	IEA Inferred from Electronic Annotation more info
response to ethanol	IEA Inferred from Electronic Annotation more info
skeletal muscle thin filament assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
I band	ISS Inferred from Sequence or Structural Similarity more info
actin filament	IDA Inferred from Direct Assay more info	PubMed
actomyosin, actin part	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info
cytosol	TAS Traceable Author Statement more info
sarcomere	IDA Inferred from Direct Assay more info	PubMed
soluble fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: actin, alpha cardiac muscle 1

Names: actin, alpha cardiac muscle 1; alpha-cardiac actin

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007553.1 RefSeqGene

Range

5001..12631

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005159.4 → NP_005150.1 actin, alpha cardiac muscle 1 proprotein

Status: REVIEWED

Source sequence(s)

AI222203, AK056592, BC009978, CR737466, DB504220

Consensus CDS

CCDS10041.1

UniProtKB/TrEMBL

B3KPP5

UniProtKB/Swiss-Prot

P68032

Related

ENSP00000290378, OTTHUMP00000160081, ENST00000290378, OTTHUMT00000251876

Conserved Domains (2) summary

cd00012
Location:9 – 375
Blast Score: 1498

ACTIN; Actin; An ubiquitous protein involved in the formation of filaments that are a major component of the cytoskeleton. Interaction with myosin provides the basis of muscular contraction and many aspects of cell motility. Each actin protomer binds one ...

pfam00022
Location:5 – 377
Blast Score: 1725

Actin; Actin

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

35080297..35087927, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

11925790..11933402, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC087457.5 (93881..99311)	None
genomic	CH471125.1	EAW92316.1
		EAW92317.1
		EAW92318.1
genomic	J00070.1	AAB59619.1
genomic	J00071.1	AAB59619.1
genomic	J00072.1	AAB59619.1
genomic	J00073.1	AAB59619.1
mRNA	AI222203.1	None
mRNA	AK056592.1	BAG51757.1
mRNA	AK129892.1	None
mRNA	AK129902.1	None
mRNA	AK290616.1	BAF83305.1
mRNA	BC009978.2	AAH09978.1
mRNA	CR541795.1	CAG46594.1
mRNA	CR737466.1	None
mRNA	DB504220.1	None
other-genetic	DQ893096.2	ABM84022.1
other-genetic	DQ896369.2	ABM87368.1