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ACTA1 Gene

protein-coding GIFtS: 68

GC01M227633

actin, alpha 1, skeletal muscle
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ACTA)

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

Aliases
ACTA ^², ³
ASMA ^², ⁵
Alpha-actin-1 ^³
CFTD ^²
CFTD1 ^², ⁵
CFTDM ^²
MPFD ^²
NEM1 ^², ⁵
NEM2 ^²
NEM3 ^², ⁵
OTTHUMP00000036123 ^²

Descriptions
actin, alpha 1, skeletal muscle ^²
alpha skeletal muscle actin ^²

External Ids
HGNC: 129¹
Entrez Gene: 58²
UniProtKB: P68133³
Ensembl: ENSG00000143632⁷

Search outside databases for aliases for ACTA1 gene

Previous GC identifers: GC01M228014 GC01M225261 GC01M225966 GC01M226528 GC01M225873

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

EntrezGene summary for ACTA1:

The product encoded by this gene belongs to the actin family of proteins, which are highly

conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and

gamma actin isoforms have been identified, with alpha actins being a major constituent of the

contractile apparatus, while beta and gamma actins are involved in the regulation of cell

motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene

cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital

myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to

muscle fiber defects. [provided by RefSeq]

UniProtKB/Swiss-Prot: ACTS_HUMAN, P68133

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 ACTA1 (Actin%2C_alpha_1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ACTA1 gene

Entrez Gene cytogenetic band: 1q42.13 Ensembl cytogenetic band: 1q42.13 HGNC cytogenetic band: 1q42.13

ACTA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M227633: (about GC identifiers)

Start:	227,633,615 bp from pter
End:	227,636,468 bp from pter
Size:	2,854 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000001.9 NT_004559.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ACTS_HUMAN, P68133 (See protein sequence)

Recommended Name: Actin, alpha skeletal muscle

Size: 377 amino acids; 42051 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. Interacts with TTID

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: P02568 P99020

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_001091.1

ENSEMBL proteins:

ENSP00000355645 ENSP00000355643 ENSP00000355644 ENSP00000344142 ENSP00000312351

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich AQUA Peptides for ACTA1
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Pan Muscle Alpha Actin , Actin, muscle Actin, alpha sarcomeric Actin, skeletal muscle Actin)
	Human Recombinant Proteins from Abnova (ACTA1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	IDA	15198992
GO:0005737	cytoplasm	IEA	--
GO:0005856	cytoskeleton	IEA	--
GO:0005865	striated muscle thin filament	IDA	15198992
GO:0005884	actin filament	IDA	12849983

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Antibodies for ACTA1:

	Invitrogen Antibodies for ACTA1
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibody Arrays and Antibodies for ACTA1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Pan Muscle Alpha Actin , Actin, muscle Actin, alpha sarcomeric Actin, skeletal muscle Actin), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for ACTA1

Assays for ACTA1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry P68133

ProtoNet protein and cluster: P68133

UniProtKB/Swiss-Prot: ACTS_HUMAN, P68133

Similarity: Belongs to the actin family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ACTA1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001100

Applied Biosystems Silencer® siRNAs for ACTA1

Sigma-Aldrich siRNA for ACTA1

Sigma-Aldrich shRNA Panels and shRNA for ACTA1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_001100
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001100
untagged cDNA clone in CMV expression vector: NM_001100

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001100

UniProtKB/Swiss-Prot: ACTS_HUMAN, P68133

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

and are ubiquitously expressed in all eukaryotic cells

Genatlas biochemistry entry for ACTA1:

actin,alpha 1,skeletal and smooth muscle major constituent of thin filaments

6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Acta1):

adipose tissue	growth/size	homeostasis/metabolism	lethality-postnatal	muscle
skeleton

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005200	structural constituent of cytoskeleton	TAS	10508519
GO:0005515	protein binding	IPI	12849983
GO:0005524	ATP binding	TAS	10508519
GO:0017022	myosin binding	TAS	10508519

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/16 Sigma-Aldrich "Your Favorite Gene" Pathways for ACTA1 (Your Favorite Gene powered by Ingenuity) (see all 16 )

Mechanisms of Viral Exit from Host Cells
Actin Cytoskeleton Signaling
Clathrin-mediated Endocytosis
Integrin Signaling
Virus Entry via Endocytic Pathways

GeneDecks ACTA1 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for ACTA1

5/151 Interacting proteins for ACTA1 (ENSP00000355645³ P68133²) via UniProtKB, MINT, and/or STRING (see all 151 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SEPN1	ENSP00000355141³	STRING (score=.931) STRING (score=.931)
GC	P02774²	STRING (score=.999) MINT-24830 MINT-24961
GSN	P06396²	STRING (score=.999) MINT-24898
SRC	P12931²	STRING (score=.985) MINT-6794909
PTPN1	P18031²	MINT-6794878

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3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006936	muscle contraction	TAS	10508519
GO:0030240	muscle thin filament assembly	IMP	11333380
GO:0048741	skeletal muscle fiber development	ISS	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Compounds for ACTA1 available from Tocris Bioscience

Compound	Action	CAS number
187-1, N-WASP inhibitor	Inhibits actin assembly	[380488-27-7]
Cytochalasin D	Disrupts actin filament function	[22144-77-0]
Thymosin beta4	Potent actin polymerization regulator	[77591-33-4]

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8 Novoseek chemical compound relationships for ACTA1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
listeriolysin	66.65	1	8022283 (1)
phosphatidylinositol-3,4,5-trisphosphate	39.40	2	10559250 (2)
proline	36.45	4	8197202 (1), 12529859 (1), 9296389 (1), 11489888 (1)
peptidoglycan	22.20	1	16430699 (1)
phosphoinositide	21.82	5	14993121 (1), 10559250 (1), 10618167 (1), 15642729 (1)
calcium	4.51	1	12042317 (1)
lipid	0.00	2	14967034 (1), 12738883 (1)
iron	0.00	2	10933250 (2)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ACTA1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001100

Sigma-Aldrich siRNA for ACTA1

Sigma-Aldrich shRNA Panels and shRNA for ACTA1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001100

REFSEQ mRNAs for ACTA1 gene:

NM_001100.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001100

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001100
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001100
                                 untagged cDNA clone in CMV expression vector: NM_001100

Additional cDNA sequence:

AK096902.1 AK300697.1 AY280960.1 BC012597.1 BX648545.1 CR536516.1 CR541796.1 J00068.1

24/51 DOTS entries (see all 51 ):

DT.102841501 DT.454774 DT.95093239 DT.95313403 DT.91890162 DT.95181315 DT.121372759 DT.91850128

DT.95313393 DT.102841506 DT.121372761 DT.91758479 DT.95340176 DT.100795516 DT.100868813 DT.100870207

DT.102841497 DT.121372744 DT.121372751 DT.85102679 DT.92033969 DT.98084087 DT.100640118 DT.100750299

24/807 AceView cDNA sequences (see all 807 ):

F17669 AA180783 F17682 AJ711290 F17003 F37407 F15530 F16637

F16625 F16564 AA346188 AA194787 AA310566 W68315 BX500383 F18677

F27026 F25489 CR541796 AA211587 AA346182 F35268 AA194516 F16141

highest scoring ESTs for ACTA1:

AA100079 AA100513 AA176533 AA180828 AA180841 AA192432 AA192544 AA192835 AA193029 AA193159

Unigene Cluster for ACTA1:

Actin, alpha 1, skeletal muscle

Hs.1288 [show with all ESTs]

Unigene Representative Sequence: BC012597

GeneLoc Exon Structure

5 Ensembl transcripts including schematic representations:

ENST00000366684 ENST00000366682 ENST00000366683 ENST00000342787 ENST00000308794

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ACTA1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ACTA1

¹ / ² / ³

4 probe-sets matching ACTA1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
31737_at²^{, 3}	U95-A	1	1.00	1.00	0.98	0.92	M20543	0.20	1.00	0.72	1
73283_f_at²^{, 3}	U95-D	2	0.57	0.88	0.94	1.10	AI131206	0.40	1.00	0.76	1
203872_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001100	0.60	1.00	0.82	1
203872_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ACTA1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AAGATCAAGA

SOURCE GeneReport for Unigene cluster: Hs.1288
Expression variation in blood from EXPOLDB for ACTA1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ACTA1 gene from 5/14 species (see all 14 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ACTA1¹	--	actin, alpha 1, skeletal muscle	86.1(n) 93.32(a)	403580 XM_845524.1 XP_850617.1
cow (Bos taurus)	ACTA1¹	--	actin, alpha 1, skeletal muscle	93.81(n) 99.73(a)	281592 NM_174225.1 NP_776650.1
rat (Rattus norvegicus)	Acta1¹	--	actin, alpha 1, skeletal muscle	90.63(n) 100(a)	29437 NM_019212.2 NP_062085.1
mouse (Mus musculus)	Acta1^{1, 5}	8 (67.00 cM)⁵	actin, alpha 1, skeletal muscle^{1, 5}	90.89(n)¹ 100(a)¹	11459¹ NM_009606.2¹ NP_033736.1¹ AA959943⁵ AK027919⁵ (see all 12)
chicken (Gallus gallus)	ACTA1¹	--	actin, alpha 1, skeletal muscle	88.51(n) 100(a)	421534 NM_001031063.1 NP_001026234.1

About this table Species with no ortholog for ACTA1

ENSEMBL Gene Tree for ACTA1

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

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/38 NCBI SNPs in ACTA1 are shown (see all 38 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 26)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs506388^1,2	A,C,F,H	227637684(-)	`TGACTC/ACAAGG`	1	--	ng3¹		7		MN EU EA WA NA	784
--	rs605430^1,2	C,F	227636426(-)	`TCCCTT/CCCGCG`	1	--	ut5¹		1		MN	184
--	rs970103^1,2	C,F	227636758(-)	`ACCCTC/TGCCCC`	1	--	ng3¹		2		MN EA	1480
--	rs7524626^1,2	A,C	227633153(+)	`aaaaaA/Caaaaa`	1	--	ng5¹		0	--	--	--	--
--	rs12140368^1,2	A	227638193(+)	`ATGTTC/TTAGTG`	1	--	ng3¹		0	--	--	--	--
	rs7534252^1,2	A,C	227636215(+)	`TCTTGC/TCTCCT`	1	--	int¹ trp³		0	--	--	--	--
	rs2070861^1,2	C	227635291(-)	`CCACCA/CGGAGC`	1	--	int¹		0	--	--	--	--
	rs527621^1,2	C	227634854(-)	`CTGAGA/CGCCTA`	1	--	int¹		0	--	--	--	--
--	rs11803533^1,2	C	227635255(+)	`CCTGCA/GGAGCC`	1	--	int¹		0	--	--	--	--
--	rs6673359^1,2	A	227634286(+)	`CGCGGC/GGGGGA`	1	--	int¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for ACTA1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 102610

UniProtKB/Swiss-Prot: ACTS_HUMAN, P68133

Defects in ACTA1 are the cause of nemaline myopathy type 3 (NEM3) [MIM:161800]. Nemaline

myopathy (NEM) is a form of congenital myopathy characterized by abnormal thread- or rod-like

structures in muscle fibers on histologic examination. The clinical phenotype is highly variable,

with differing age at onset and severity

Defects in ACTA1 are a cause of congenital myopathy with excess of thin myofilaments (CM)

[MIM:102610]

Defects in ACTA1 are a cause of congenital myopathy with fiber-type disproportion (CFTD)

[MIM:255310]; also known as congenital fiber-type disproportion myopathy (CFTDM). CFTD is a

genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers

compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and

can be found in many different myopathic and neuropathic conditions

10/12 Novoseek disease relationships for ACTA1 gene (see all 12 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
myopathies nemaline	95.46	60	16945536 (3), 11166164 (3), 16288873 (2), 15336686 (2) (see all 28)
congenital fiber type disproportion	89.93	3	15468086 (1), 17387733 (1)
myopathy, congenital	89.63	15	18976909 (2), 15520409 (1), 12921789 (1), 17885449 (1) (see all 7)
scar1	75.54	2	11029465 (2)
myopathy	72.39	29	10508519 (2), 15221331 (2), 15072110 (2), 15226407 (2) (see all 13)
listeriosis	51.81	1	9284184 (1)
neuromuscular diseases	23.14	1	15236405 (1)
respiratory failure	21.01	1	15468086 (1)
hypertrophy	1.26	1	10764782 (1)
tumors	1.14	2	16837618 (1)

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GeneTests: ACTA1

Nemaline Myopathy

Human Gene Mutation Database: ACTA1
Genetic Association Database: ACTA1
Human Genome Epidemiology Navigator: ACTA1 (2 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/305 PubMed articles for ACTA1 gene (see all 305 ):

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. (PubMed id 11166164)^{1, 3, 4} Jungbluth H.... Muntoni F. (2001)
Nemaline myopathy caused by mutations in the muscle alpha-skeletal- actin gene. (PubMed id 11333380)^{1, 3, 4} Ilkovski B.... North K.N. (2001)
Actin mutations are one cause of congenital fibre type disproportion. (PubMed id 15468086)^{1, 3, 4} Laing N.G.... Nonaka I. (2004)
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. (PubMed id 10508519)^{1, 3, 4} Nowak K.J.... North K.N. (1999)
Assignment of the human skeletal muscle [FC12]a-actin gene (ACTA1) to chromosome 1q42.13-->q42.2 by radiation hybrid mapping. (PubMed id 10072583)^{1, 2, 3} Mogensen J....Borglum A.D. (1998)
Substrate and functional diversity of lysine acetylation revealed by a proteomics survey. (PubMed id 16916647)^{3, 4} Kim S.C.... Zhao Y. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
ACT and UCH-L1 polymorphisms in Parkinson's disease and age of onset. (PubMed id 12210873)^{3, 6} Wang J....Yu L. (2002)
Potential genetic markers of sporadic Alzheimer's dementia. (PubMed id 11702052)^{3, 6} Retz W....Rosler M. (2001)
Myotilin is mutated in limb girdle muscular dystrophy 1A. (PubMed id 10958653)^{3, 4} Hauser M.A.... Speer M.C. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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, and/or H-InvDB)
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Entrez Gene: 58	HGNC: 129	AceView: ACTA1	Ensembl:ENSG00000143632	euGenes: HUgn58
ECgene: ACTA1	H-InvDB: ACTA1

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

Name	Description
GeneReviews	http://www.genetests.org/query?gene=ACTA1

Licensable Technologies for ACTA1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ACTA1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ACTA1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ACTA1		Antibodies for ACTA1
	Explore super-pooled esiRNAs		Proteins for ACTA1
	Lentivirus-delivered shRNAs for ACTA1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ACTA1)
	Search for Antibodies
	Search for Chimera RNAi
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Antibodies for ACTA1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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ACTA1 Gene at Home site.
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ACTA1 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for ACTA1

Summaries
for ACTA1

Genomic Location
for ACTA1

Proteins
for ACTA1

Protein Domains/
Families
for ACTA1

Gene Function
for ACTA1

Pathways & Interactions
for ACTA1

Drugs & Compounds
for ACTA1

Transcripts
for ACTA1

Expression
for ACTA1

Orthologs
for ACTA1

Paralogs
for ACTA1

SNPs/Variants
for ACTA1

Disorders & Mutations
for ACTA1

Medical News
for ACTA1

Publications
for ACTA1

Search for ACTA1

Genome Databases showing ACTA1

Other Databases showing ACTA1

Specialized Databases showing ACTA1

Licensable Technologies
for ACTA1

Services
for ACTA1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ACTA1 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor ACTA1

Summariesfor ACTA1

Genomic Locationfor ACTA1

Proteinsfor ACTA1

Protein Domains/Familiesfor ACTA1

Gene Functionfor ACTA1

Pathways & Interactionsfor ACTA1

Drugs & Compoundsfor ACTA1

Transcriptsfor ACTA1

Expression for ACTA1

Orthologsfor ACTA1

Paralogsfor ACTA1

SNPs/Variantsfor ACTA1

Disorders & Mutationsfor ACTA1

Medical Newsfor ACTA1

Publicationsfor ACTA1

Search for ACTA1

Genome Databases showing ACTA1

Other Databases showing ACTA1

Specialized Databases showing ACTA1

Licensable Technologiesfor ACTA1

Servicesfor ACTA1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ACTA1

Summaries
for ACTA1

Genomic Location
for ACTA1

Proteins
for ACTA1

Protein Domains/
Families
for ACTA1

Gene Function
for ACTA1

Pathways & Interactions
for ACTA1

Drugs & Compounds
for ACTA1

Transcripts
for ACTA1

Expression
for ACTA1

Orthologs
for ACTA1

Paralogs
for ACTA1

SNPs/Variants
for ACTA1

Disorders & Mutations
for ACTA1

Medical News
for ACTA1

Publications
for ACTA1

Licensable Technologies
for ACTA1

Services
for ACTA1