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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACTC1 Gene

protein-coding GIFtS: 62
GCID: GC15M035080

actin, alpha, cardiac muscle 1

(Previous names: actin, alpha, cardiac muscle )
(Previous symbol: ACTC)

Explore 187 diseases affiliated with
ACTC1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Actin, Alpha, Cardiac Muscle 1¹ ²		LVNC4² ⁵
ACTC¹ ² ³		Actin, Alpha, Cardiac Muscle¹
CMD1R¹ ² ⁵		Actin, Alpha Cardiac Muscle 1²
ASD5² ⁵		Alpha-Cardiac Actin³
CMH11² ⁵

External Ids:	HGNC: 143¹	Entrez Gene: 70²	Ensembl: ENSG00000159251⁷	OMIM: 102540⁵	UniProtKB: P68032³

Export aliases for ACTC1 gene to outside databases

Previous GC identifers: GC15M032870 GC15M011925

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACTC1:

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)

UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032

Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously

expressed in all eukaryotic cells

Gene Wiki entry for ACTC1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACTC1 gene promoter:
Pax-3 STAT3 FOXO1a MyoD FOXO1 FOXL1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACTC1 promoter sequence

Search SABiosciences Chromatin IP Primers for ACTC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q14 Ensembl cytogenetic band: 15q14 HGNC cytogenetic band: 15q14

ACTC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTC1 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M035080: view genomic region (about GC identifiers)

Start:	35,080,297 bp from pter	End:	35,088,340 bp from pter
Size:	8,044 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032 (See protein sequence)

Recommended Name: Actin, alpha cardiac muscle 1 precursor

Size: 377 amino acids; 42019 Da

Subunit: 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 4 others

Subcellular location: Cytoplasm, cytoskeleton

Miscellaneous: In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha

actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins

coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility

Secondary accessions: P04270

Explore the universe of human proteins at neXtProt for ACTC1: NX_P68032

Post-translational modifications:

Oxidation of Met-46 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament

depolymerization. Methionine sulfoxide is produced stereospecifically, but it is not known whether the (S)-S-oxide or

the (R)-S-oxide is produced (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P68032

ACTC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005150.1

ENSEMBL proteins:

ENSP00000290378

Reactome Protein details: P68032
Human Recombinant Protein Products for ACTC1:

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	Novus Biologicals ACTC1 Proteins Novus Biologicals ACTC1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ACTC1

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--
GO:0005884	actin filament	IDA	19799913
GO:0015629	actin cytoskeleton	--	--

ACTC1 for ontologies About GeneDecksing

ACTC1 Antibody Products:

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Assay Products for ACTC1:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ACTC1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACTC1 for domains About GeneDecksing

3 InterPro domains/families:

IPR004001 Actin_CS

IPR004000 Actin-related

IPR020902 Actin/actin-like_CS

Graphical View of Domain Structure for InterPro Entry P68032

ProtoNet protein and cluster: P68032

UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032

Similarity: Belongs to the actin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ACTC_HUMAN, P68032

Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously

expressed in all eukaryotic cells

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0005524	ATP binding	IDA	16611632
GO:0016887	ATPase activity	IDA	16611632
GO:0017022	myosin binding	IPI	16611632

ACTC1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for ACTC1:

G0/1 arrest

Increased G1 DNA content

7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Actc1):

cardiovascular system	cellular	growth/size	homeostasis/metabolism	mortality/aging
muscle	normal

ACTC1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Actc1^tm1Jll for ACTC1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACTC1

miRNA Products:		OriGene 3'-UTR Clone: ACTC1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACTC1
		8/27 QIAGEN miScript miRNA Assays for microRNAs that regulate ACTC1 (see all 27):
		hsa-miR-142-5p hsa-miR-30c hsa-miR-361-5p hsa-miR-495 hsa-miR-3942-5p hsa-miR-25 hsa-miR-30d hsa-miR-340

		SwitchGear 3'UTR luciferase reporter plasmid: ACTC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for ACTC1
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACTC1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACTC1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTC1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cytoskeleton remodeling Slit-Robo signaling

	Cytoskeleton remodeling Slit-Robo signaling	1.00			Cell adhesion_Cadherin-mediated cell adhesion	0.28
	Development_Slit-Robo signaling	0.92			Cell adhesion Cadherin-mediated cell adhesion	0.28

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Muscle contraction	0.65
	Striated Muscle Contraction	0.87

Clathrin-dependent protein traffic

	Clathrin-dependent protein traffic	1.00			wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)	0.35
	Transport_Clathrin-coated vesicle cycle	0.66

Cell adhesion_Gap junctions

Cell adhesion_Gap junctions

1.00

Cell adhesion Gap junctions

0.89

Cell adhesion Tight junctions

Cell adhesion Tight junctions

1.00

Cell adhesion_Tight junctions

0.99

Pathway sources
See GeneCards unified pathways
Show all pathways

5/7 EMD Millipore Pathways for ACTC1 (see all 7)

	Clathrin-dependent protein traffic
	Cell adhesion Gap junctions
	Cell adhesion Tight junctions
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	Cytoskeleton remodeling RalA regulation pathway

1 Cell Signaling Technology (CST) Pathway for ACTC1

Cytoskeletal Signaling

5/8 GeneGo (Thomson Reuters) Pathways for ACTC1 (see all 8)

	Cytoskeleton remodeling RalA regulation pathway
	Development Slit-Robo signaling
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
	Transport Clathrin-coated vesicle cycle

2 BioSystems Pathways for ACTC1

	Myometrial Relaxation and Contraction Pathways
	Striated Muscle Contraction

2 Reactome Pathways for ACTC1

	Muscle contraction
	Striated Muscle Contraction

3 Kegg Pathways (Kegg details for ACTC1):

	Cardiac muscle contraction
	Hypertrophic cardiomyopathy (HCM)
	Dilated cardiomyopathy

ACTC1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ACTC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/109 Interacting proteins for ACTC1 (P68032^{2, 3} ENSP00000290378⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 109)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GAPDH	P04406²^,³, ENSP00000229239⁴	MINT-8256327 I2D: score=2 STRING: ENSP00000229239
TRIM63	Q969Q1²^,³, ENSP00000363390⁴	MINT-6503620 I2D: score=1 STRING: ENSP00000363390
TNNI3K	Q59H18³, ENSP00000359928⁴	I2D: score=3 STRING: ENSP00000359928
FPGT-TNNI3K	Q59H18³	I2D: score=3
ABLIM3	O94929³, ENSP00000310309⁴	I2D: score=2 STRING: ENSP00000310309

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006200	ATP catabolic process	IDA	17765196
GO:0006915	apoptotic process	ISS	--
GO:0006936	muscle contraction	--	--
GO:0030048	actin filament-based movement	IDA	16611632
GO:0030049	muscle filament sliding	TAS	--

ACTC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACTC1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACTC1
10/33 Novoseek chemical compound relationships for ACTC1 gene (see all 33) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mucicarmine	62.3	3	11211614 (1), 11858401 (1), 19596664 (1)
s 100	59.5	2	10564387 (1), 16859566 (1)
progesterone	58.6	53	19781188 (2), 10227006 (2), 9308729 (1), 9422311 (1) (see all 50)
reticulin	58.6	4	11858401 (1), 14565567 (1), 15363323 (1), 18459138 (1)
hematoxylin	58.4	7	15307213 (1), 15807305 (1), 16883460 (1), 17240306 (1) (see all 7)
estrogen	55.3	60	12090595 (2), 12004356 (2), 19781188 (2), 10227006 (2) (see all 55)
paraffin	47.4	16	17912630 (1), 19130736 (1), 19514352 (1), 16365828 (1) (see all 16)
imatinib	42.3	2	19041155 (1), 16998931 (1)
orcein	40.6	1	15363323 (1)
2-methoxyethanol	29.2	1	1706081 (1)

Search CenterWatch for drugs/clinical trials and news about ACTC1 / ACTC

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACTC1 gene:

NM_005159.4

Unigene Cluster for ACTC1:

Actin, alpha, cardiac muscle 1

Hs.118127 [show with all ESTs]

Unigene Representative Sequence: NM_005159

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000290378(uc001ziu.1) ENST00000557860 ENST00000560563

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		hsa-miR-142-5p hsa-miR-30c hsa-miR-361-5p hsa-miR-495 hsa-miR-3942-5p hsa-miR-25 hsa-miR-30d hsa-miR-340

		SwitchGear 3'UTR luciferase reporter plasmid: ACTC1 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTC1

Additional cDNA sequence:

AK129892.1 AK129902.1 AK290616.1 BC009978.2 CR541795.1

11 DOTS entries:

DT.75138650 DT.87009325 DT.75162336 DT.121040859 DT.97858741 DT.100785624 DT.121040827 DT.87017230

DT.92420061 DT.95214207 DT.102838330

24/241 AceView cDNA sequences (see all 241):

BM142700 BP375166 BU622616 BM848240 CA976073 AA953615 C04447 AJ708424

AA775604 CR541795 BM762384 AK129892 N89169 AJ711313 AA977452 AA039993

AJ712314 N70639 C04959 BP373166 AA346915 T19640 AA347523 AK129902

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACTC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

ACTC1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

9 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Myocardium

Skeletal Muscle

Cardiac Crescent Cells

Myocardium

Amacrine, Retina

Epicardium

Primitive Heart Tube Cells

Myocardium

Adipose

Thoracic Perivascular Adipose

Adipose

Heart

Reproductive System

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/18 LifeMap Cells (see all 18)

Name

Category

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

N2/LSB induced-cells (Generation of midbra...)

Definitive endoderm-like cells (Generation of mesend...)

Posterior foregut-like cells (A scalable, suspensi...)

Epiblast-like cells (Reconstitution of mo...)

Primordial germ cell-like cells (Reconstitution of mo...)

HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+BMP4-induced SM30 cells (HyStem+BMP4 inductio...)

Adipose, Bone, Cartilage

See ACTC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACTC1

SOURCE GeneReport for Unigene cluster: Hs.118127

SABiosciences Expression via Pathway-Focused PCR Arrays including ACTC1:

Wound Healing in human mouse rat

Embryonic Stem Cells in human mouse rat

Stem Cells in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTC1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTC1 gene from 8/28 species (see all 28) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACTC1¹	actin, alpha, cardiac muscle 1	86.38(n) 100(a)		423298 NM_001079481.1 NP_001072949.1
lizard (Anolis carolinensis)	Reptilia	-- ACTC1⁶	--	83(a) 100(a)	possible ortholog 1 ↔ 1	GL343721.1(263114-263356) 1(30300576-30309103)
African clawed frog (Xenopus laevis)	Amphibia	BC041197.1²	--	87.91(n)		BC041197.1
zebrafish (Danio rerio)	Actinopterygii	actc1b¹	actin, alpha, cardiac muscle 1b	87.18(n) 98.94(a)		58114 NM_131591.1 NP_571666.1
fruit fly (Drosophila melanogaster)	Insecta	Arp53D⁶	Actin-related protein 53D	63(a)	possible ortholog	2R(12661811-12663179)
worm (Caenorhabditis elegans)	Secernentea	act-5⁶	ACTin family member (act-5)	91(a)	1 → many	III(13604238-13605967)
thale cress (Arabidopsis thaliana)	eudicotyledons	ACT7¹	actin 7	75.86(n) 88.59(a)		830841 NM_121018.3 NP_196543.1
rice (Oryza sativa)	Liliopsida	Os11g0163100¹	hypothetical protein	78.07(n) 88.86(a)		4349863 NM_001072362.1 NP_001065830.1

ENSEMBL Gene Tree for ACTC1 (if available)
TreeFam Gene Tree for ACTC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ACTC1 gene

ACTG2² ACTA2² ACTRT2² ACTB² ACTR1A² ACTL9² ACTRT1² ACTG1²

ACTL7A² ACTBL2² ACTL7B² ACTR1B² ACTA1² ACTRT3²

18/33 SIMAP similar genes for ACTC1 using alignment to 1 protein entry: ACTC_HUMAN(see all similar genes):

ACTA2 PS1TP5BP1 ACTB ACTBL2 ACTG1 ACT

POTEF ACTG2 POTEE POTEI POTEJ POTEKP

ACTR1B ACTR1A ACTA1 ACTRT3 ACTRT1 ACTR2

ACTC1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs193922680^1,2	C	pathogenic	35085599(-)	`CTCCCA/GAGGAG`	2	K E	mis¹		0	--	--	--	--
rs148433308^1,2	C	unknown	35086857(+)	`GGGAC-/GGGGGG`	1	--	int¹		0	--	--	--	--
rs146060905^1,2		--	35079800(+)	`CTTTCC/TTCAGC`	1	--	ds500¹		0	--	--	--	--
rs116410626^1,2		--	35079818(+)	`TGGGTC/GGCCTT`	1	--	ds500¹		1		WA	118
rs74563378^1,2	F	--	35079834(+)	`TCTGCC/TCTCAC`	1	--	ds500¹		3		WA NA EA	358
rs503639^1,2	C,F,A,H	--	35079991(+)	`GGGAGT/ATAGGG`	1	--	ds500¹		10		NA WA CSA	137
rs184602686^1,2		--	35080052(+)	`GGAGAA/CCTGGA`	1	--	ds500¹		0	--	--	--	--
rs8027352^1,2	C,F	--	35080094(+)	`CATTGT/CANNNN`	1	--	ds500¹		5		WA NA CSA	244
rs74009718^1,2	C	--	35080151(+)	`CAGTAA/CTATTT`	1	--	ds500¹		5		WA NA CSA	243
rs74009719^1,2	C,F	--	35080179(+)	`CTCTCC/TTAAAT`	1	--	ds500¹		5		WA NA CSA	244

HapMap Linkage Disequilibrium report for ACTC1 (35080297 - 35088340 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACTC1: --
Human Gene Mutation Database (HGMD): ACTC1

Locus Specific Mutation Databases (LSDB): ACTC1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACTC1

DNA2.0 Custom Variant and Variant Library Synthesis for ACTC1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ACTC1 for disorders           About GeneDecksing

OMIM gene information: 102540
OMIM disorders: 613424  612098  612794
UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032

Defects in ACTC1 are the cause of cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]. Dilated cardiomyopathy

is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart

failure and arrhythmia. Patients are at risk of premature death

Defects in ACTC1 are the cause of familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]. Familial

hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually

asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse,

palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial

variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death

Defects in ACTC1 are the cause of atrial septal defect type 5 (ASD5) [MIM:612794]. A congenital heart

malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left

to the right atria

20/187 diseases for ACTC1 (see all 187): About MalaCards

familial hypertrophic cardiomyopathy hypertrophic cardiomyopathy dilated cardiomyopathy cardiomyopathy

left ventricular noncompaction non-langerhans-cell histiocytosis left ventricular noncompaction 4 cardiomyopathy, familial hypertrophic, 11

langerhans-cell histiocytosis atypical teratoid rhabdoid tumor multiple endocrine neoplasia type 2a atrial septal defect 5

desmoplastic small round cell tumor malignant peripheral nerve sheath tumor malignant giant cell tumor of soft parts dermatofibrosarcoma protuberans

malignant fibrous histiocytoma smooth muscle tumor fibrous histiocytoma syringocystadenoma papilliferum

3 diseases from the University of Copenhagen DISEASES database for ACTC1:

Hypertrophic cardiomyopathy Dilated cardiomyopathy Nemaline myopathy

10/92 Novoseek disease relationships for ACTC1 gene (see all 92) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myoepithelioma	85.4	7	9431536 (2), 15619979 (1), 15717758 (1), 7542546 (1) (see all 6)
leiomyosarcoma	84.8	19	14576480 (2), 9298873 (2), 8872438 (1), 8140724 (1) (see all 17)
stromal tumors	84.2	2	19495761 (1), 7688213 (1)
smooth muscle tumor	83.9	6	12090595 (1), 12296754 (1), 16400320 (1), 19722741 (1) (see all 6)
gastrointestinal stromal tumor	82.2	6	18996821 (1), 18976023 (1), 15232741 (1), 12483251 (1)
leiomyoma	79	20	15307213 (1), 18208801 (1), 14576480 (1), 16293183 (1) (see all 19)
tumors	77.6	312	9237180 (2), 15692950 (2), 15295674 (2), 7773942 (2) (see all 99)
angiomyolipoma	77.2	6	11485907 (1), 11033464 (1), 11914628 (1), 18620999 (1) (see all 6)
rhabdoid tumor	73.6	1	11468564 (1)
fibromatosis	72.8	5	16400320 (1), 19722741 (1), 14608534 (1), 15232741 (1) (see all 5)

GeneTests: ACTC1

Familial Hypertrophic Cardiomyopathy

Dilated Cardiomyopathy

Human Genome Epidemiology (HuGE) Navigator: ACTC1 (2 documents)

Export disorders for ACTC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ACTC1 gene, integrated from 9 sources (see all 953):
(articles sorted by number of sources associating them with ACTC1)

Utopia: connect your pdf to the dynamic
world of online information

Alpha-cardiac actin mutations produce atrial septal defects. (PubMed id 17947298)^{1, 2, 9} Matsson H....Dahl N. (2008)
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. (PubMed id 10330430)^{1, 2, 9} Mogensen J.... Boerglum A.D. (1999)
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. (PubMed id 10966831)^{1, 2, 9} Olson T.M....Fananapazir L. (2000)
Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)^{1, 2, 9} Morita H.... Seidman C.E. (2008)
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. (PubMed id 9563954)^{1, 2, 9} Olson T.M.... Keating M.T. (1998)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q. (PubMed id 1639426)^{1, 3} Kramer P.L....Litt M. (1992)
Molecular structure and evolutionary origin of human cardiac muscle actin gene. (PubMed id 6310553)^{1, 2} Hamada H.... Kakunaga T. (1982)
Overexpression of cardiac actin with baculovirus is promoter dependent. (PubMed id 17765196)^{1, 9} Yates S.P....Dawson J.F. (2007)
Dual roles of Gln137 of actin revealed by recombinant human cardiac muscle alpha-actin mutants. (PubMed id 18515362)^{1, 9} Iwasa M....Oda T. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 70	HGNC: 143	AceView: ACTC	Ensembl:ENSG00000159251	euGenes: HUgn70
ECgene: ACTC1	Kegg: 70	H-InvDB: ACTC1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ACTC1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACTC1

Intellectual Property for ACTC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ACTC1 gene:
Search GeneIP for patents involving ACTC1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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actin, alpha, cardiac muscle 1

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ACTC1 Gene

actin, alpha, cardiac muscle 1

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