HUMAN:ACTC

From GONUTS

Jump to: navigation, search

Species (Taxon ID)	Homo sapiens (Human). (taxon:9606)
Gene Name(s)	ACTC1 ( synonyms: ACTC )
Protein Name(s)	Actin, alpha cardiac muscle 1 Alpha-cardiac actin
External Links
UniProt Identifier	ACTC_HUMAN
UniProt Accessions	P68032, P04270,
EMBL	J00073, J00070, J00071, J00072, CR541795, BC009978,
PIR	A02998,
RefSeq	NP_005150.1,
IntAct	P68032,
Ensembl	ENST00000290378,
Pfam	PF00022,

Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes	Status
	GO:0042643	actomyosin, actin part		IDA: Inferred from Direct Assay		C	Source: UniProtKB
	GO:0031674	I band		ISS: Inferred from Sequence or Structural Similarity		C	Source: UniProtKB
	GO:0005524	ATP binding		IDA: Inferred from Direct Assay		F	Source: UniProtKB
	GO:0016887	ATPase activity		IDA: Inferred from Direct Assay		F	Source: UniProtKB
	GO:0017022	myosin binding		IPI: Inferred from Physical Interaction		F	Source: UniProtKB
	GO:0030048	actin filament-based movement		IDA: Inferred from Direct Assay		P	Source: UniProtKB
	GO:0006915	apoptosis		ISS: Inferred from Sequence or Structural Similarity		P	Source: UniProtKB
	GO:0055008	cardiac muscle tissue morphogenesis		ISS: Inferred from Sequence or Structural Similarity		P	Source: UniProtKB
	GO:0055003	cardiac myofibril assembly		ISS: Inferred from Sequence or Structural Similarity		P	Source: UniProtKB
	GO:0030240	skeletal muscle thin filament assembly		ISS: Inferred from Sequence or Structural Similarity		P	Source: UniProtKB
	GO:0005737	cytoplasm	PMID:20962418^[1]	IDA: Inferred from Direct Assay		C	Fig. 1E Expression of the ACTC1 gene in the cardiac tissues determined by immunohistochemistry, showed staining was mainly restricted in the cytoplasm.	complete
	GO:0010659	cardiac muscle cell apoptosis	PMID:20962418^[1]	IDA: Inferred from Direct Assay		P	Fig. 2B TUNEL-positive (apoptotic) cardiomyocytes were detected in the patients sample with down-regulated ACTC1.	complete
	GO:0010665	regulation of cardiac muscle cell apoptosis	PMID:20962418^[1]	IDA: Inferred from Direct Assay		P	Fig. 2D High relative proportions of TUNEL-positive (apoptotic) cardiomyocytes were detected in the patients sample with down-regulated ACTC1, when compared with normal ACTC1 expression group and the control group.	complete
	GO:0010468	regulation of gene expression	PMID:20962418^[1]	IDA: Inferred from Direct Assay		P	Fig 2F showing relative Caspase-3 mRNA expression increased significantly in the patients sample with down-regulated ACTC1; and Fig 2G showing relative Bcl-2 mRNA expression decreased significantly in the patients sample with down-regulated ACTC1.	complete
	GO:0010667	negative regulation of cardiac muscle cell apoptosis	PMID:20962418^[1]	IMP: Inferred from Mutant Phenotype		P	Fig 4A and 4B showing the significant increase in percentage of apoptotic cells induced by ACTC1-siRNA in comparison to negative control.	complete
	GO:0000166	nucleotide binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0547	F
	GO:0005524	ATP binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR004001	F
	GO:0005524	ATP binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0067	F
	GO:0005524	ATP binding	PMID:16611632^[2]	IDA: Inferred from Direct Assay		F
	GO:0005625	soluble fraction	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011773	C
	GO:0005737	cytoplasm	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0963	C
	GO:0005737	cytoplasm	PMID:20962418^[1]	IDA: Inferred from Direct Assay		C
	GO:0005829	cytosol	Reactome:REACT_16902	TAS: Traceable Author Statement		C
	GO:0005829	cytosol	Reactome:REACT_16935	TAS: Traceable Author Statement		C
	GO:0005829	cytosol	Reactome:REACT_16995	TAS: Traceable Author Statement		C
	GO:0005829	cytosol	Reactome:REACT_17057	TAS: Traceable Author Statement		C
	GO:0005856	cytoskeleton	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0206	C
	GO:0005856	cytoskeleton	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0090	C
	GO:0005884	actin filament	PMID:16611632^[2]	IDA: Inferred from Direct Assay		C
	GO:0005884	actin filament	PMID:19799913^[3]	IDA: Inferred from Direct Assay		C
	GO:0006200	ATP catabolic process	PMID:16611632^[2]	IDA: Inferred from Direct Assay		P
	GO:0006200	ATP catabolic process	PMID:17765196^[4]	IDA: Inferred from Direct Assay		P
	GO:0006915	apoptosis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000087736	P
	GO:0006915	apoptosis	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P68033	P
	GO:0006936	muscle contraction	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011773	P
	GO:0015629	actin cytoskeleton	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011773	C
	GO:0016887	ATPase activity	PMID:16611632^[2]	IDA: Inferred from Direct Assay		F
	GO:0016887	ATPase activity	PMID:17765196^[4]	IDA: Inferred from Direct Assay		F
	GO:0017022	myosin binding	PMID:16611632^[2]	IPI: Inferred from Physical Interaction	UniProtKB:O62854	F
	GO:0017022	myosin binding	PMID:19799913^[3]	IDA: Inferred from Direct Assay		F
	GO:0030017	sarcomere	PMID:16288873^[5]	IDA: Inferred from Direct Assay		C
	GO:0030048	actin filament-based movement	PMID:16611632^[2]	IDA: Inferred from Direct Assay		P
	GO:0030049	muscle filament sliding	Reactome:REACT_16969	TAS: Traceable Author Statement		P
	GO:0030240	skeletal muscle thin filament assembly	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000087736	P
	GO:0030240	skeletal muscle thin filament assembly	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P68033	P
	GO:0031032	actomyosin structure organization	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000087736	P
	GO:0031032	actomyosin structure organization	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P68033	P
	GO:0031674	I band	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000087736	C
	GO:0031674	I band	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P68033	C
	GO:0033275	actin-myosin filament sliding	PMID:19799913^[3]	IMP: Inferred from Mutant Phenotype		P
	GO:0042493	response to drug	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011773	P
	GO:0042643	actomyosin, actin part	PMID:16611632^[2]	IDA: Inferred from Direct Assay		C
	GO:0045471	response to ethanol	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011773	P
	GO:0055003	cardiac myofibril assembly	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000087736	P
	GO:0055003	cardiac myofibril assembly	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P68033	P
	GO:0055008	cardiac muscle tissue morphogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000087736	P
	GO:0055008	cardiac muscle tissue morphogenesis	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P68033	P
	GO:0060047	heart contraction	PMID:17611253^[6]	IMP: Inferred from Mutant Phenotype		P
	GO:0060047	heart contraction	PMID:17947298^[7]	IMP: Inferred from Mutant Phenotype		P
	GO:0060047	heart contraction	PMID:9563954^[8]	IMP: Inferred from Mutant Phenotype		P
	GO:0060048	cardiac muscle contraction	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011773	P
edit table

Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 Jiang HK et al. (2010) Reduced ACTC1 expression might play a role in the onset of congenital heart disease by inducing cardiomyocyte apoptosis. Circ J 74: 2410-8 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 Bookwalter CS & Trybus KM (2006) Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. J Biol Chem 281: 16777-84 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Debold EP et al. (2010) Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. J Mol Cell Cardiol 48: 286-92 PubMed GONUTS page
↑ ^4.0 ^4.1 Yates SP et al. (2007) Overexpression of cardiac actin with baculovirus is promoter dependent. Arch Biochem Biophys 466: 58-65 PubMed GONUTS page
↑ Ilkovski B et al. (2005) Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscul Disord 15: 829-35 PubMed GONUTS page
↑ Monserrat L et al. (2007) Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J 28: 1953-61 PubMed GONUTS page
↑ Matsson H et al. (2008) Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet 17: 256-65 PubMed GONUTS page
↑ Olson TM et al. (1998) Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280: 750-2 PubMed GONUTS page

[PMID:20962418-0] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 Jiang HK et al. (2010) Reduced ACTC1 expression might play a role in the onset of congenital heart disease by inducing cardiomyocyte apoptosis. Circ J 74: 2410-8 PubMed GONUTS page

[PMID:16611632-1] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 Bookwalter CS & Trybus KM (2006) Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. J Biol Chem 281: 16777-84 PubMed GONUTS page

[PMID:19799913-2] 3.0 ^3.1 ^3.2 Debold EP et al. (2010) Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. J Mol Cell Cardiol 48: 286-92 PubMed GONUTS page

[PMID:17765196-3] 4.0 ^4.1 Yates SP et al. (2007) Overexpression of cardiac actin with baculovirus is promoter dependent. Arch Biochem Biophys 466: 58-65 PubMed GONUTS page

[PMID:16288873-4] Ilkovski B et al. (2005) Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscul Disord 15: 829-35 PubMed GONUTS page

[PMID:17611253-5] Monserrat L et al. (2007) Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J 28: 1953-61 PubMed GONUTS page

[PMID:17947298-6] Matsson H et al. (2008) Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet 17: 256-65 PubMed GONUTS page

[PMID:9563954-7] Olson TM et al. (1998) Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280: 750-2 PubMed GONUTS page

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

HUMAN:ACTC

Contents

Annotations

Notes

References

a

c

c cont.

e

h

i

m

m cont.

n

p

r

s

v

Personal tools

Namespaces

Variants

Views

Actions

Search

Navigation

Cacao

Journal Clubs

page contributors

Toolbox