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Aliases & Descriptions for ACTC1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ACTC 2, 3 | | CMD1R 1, 2, 5 | | CMH11 2, 5 |
| | | Descriptions |
|---|
| Alpha-cardiac actin 3 | | actin, alpha, cardiac muscle 1 | | actin, alpha, cardiac muscle 1 2 | | cardiac muscle alpha actin 1 2 |
|
| | Search outside databases for aliases for ACTC1 gene |
Summaries for ACTC1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cellsGene Wiki entry for ACTC1 |
Genomic Location for ACTC1
(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
Entrez Gene cytogenetic band: 15q11-q14 Ensembl cytogenetic band: 15q14 HGNC cytogenetic band: 15q11-q14ACTC1 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 15 GeneLoc Exon Structure GeneLoc location for GC15M032870:
(about GC identifiers)
Start:
|
32,867,589 bp from pter |
End:
|
32,875,219 bp from pter |
Size:
|
7,631 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000015.8 NT_010194.16
| Proteins for ACTC1
(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)
About This Section
| UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032 (See
protein sequence)Recommended Name: Actin, alpha cardiac muscle 1 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: P04270REFSEQ proteins: NP_005150.1
ENSEMBL proteins: ENSP00000290378
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: ACTC1 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for ACTC1: Assays for ACTC1: | Protein
Domains/ Families for ACTC1(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 P68032
ProtoNet protein and cluster: P68032 UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032Similarity: Belongs to the actin family | Gene Function for ACTC1
(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.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005159
Applied Biosystems Silencer® siRNAs for ACTC1
Sigma-Aldrich siRNA for ACTC1  Sigma-Aldrich shRNA for ACTC1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005159                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005159                                  untagged cDNA clone in CMV expression vector: NM_005159 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005159
UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Actc1):
5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for ACTC1
(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.)
About This Section
|
5/17 Sigma-Aldrich "Your Favorite Gene" Pathways for ACTC1 (Your Favorite Gene powered by Ingenuity) (see all 17
) 
5/42 Interacting proteins for ACTC1 (ENSP000002903783 P680322) via UniProtKB, MINT, and/or STRING (see all 42
)About this table
5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
): About this table
|
Drugs & Compounds for ACTC1(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
|  |
Enzo Life Sciences drugs & compounds for ACTC1 |
Browse Tocris compounds for ACTC1 10/20 Novoseek chemical compound relationships for ACTC1 gene (see all 20
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| mucicarmine |
61.08 |
2 |
11211614 (1), 11858401 (1) |
| s 100 |
60.85 |
2 |
10564387 (1), 16859566 (1) |
| progesterone |
58.35 |
47 |
10227006 (2), 9308729 (1), 9422311 (1), 12090595 (1) (see all 45) |
| hematoxylin |
55.24 |
6 |
15307213 (1), 15807305 (1), 16883460 (1), 17240306 (1) (see all 6) |
| reticulin |
54.05 |
4 |
11858401 (1), 14565567 (1), 15363323 (1), 18459138 (1) |
| nash |
32.98 |
5 |
18802068 (1), 19330863 (1) |
| orcein |
31.16 |
1 |
15363323 (1) |
| matrigel |
15.21 |
1 |
11710645 (1) |
| b 723 |
14.91 |
1 |
7678320 (1) |
| glycogen |
14.84 |
1 |
11048812 (1) |
About this table
|
Transcripts for ACTC1(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
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005159
Sigma-Aldrich siRNA for ACTC1  Sigma-Aldrich shRNA for ACTC1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_005159 REFSEQ mRNAs for ACTC1 gene: NM_005159.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005159               OriGene GFP tagged cDNA clone in CMV expression vector: NM_005159                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005159                                  untagged cDNA clone in CMV expression vector: NM_005159  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
):C04447 AA330934 AA330630 BM847198 AA968481 AA775604 BX502865 C04959 W78033 AA953615 AJ708424 BP375166 N70639 AJ712314 T19640 AK129902 AA347523 CA976073 BU622616 AA039993 AA346915 AK129892 AJ710388 BM848240
highest scoring ESTs for ACTC1:AK129892 AK129902 BC009978 BF307690 BG699191 BM764026 BM845863 BM847198 BM848240 BM849456 Unigene Cluster for ACTC1: Actin, alpha, cardiac muscle 1 Hs.118127 [show with all ESTs]Unigene Representative Sequence: NM_005159
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000290378
|
Expression for ACTC1
(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
| ACTC1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ACTC1
1 / 2 / 3 4 probe-sets matching ACTC1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.118127
|
Orthologs for ACTC1
(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 ACTC1 gene from 5/14 species (see all 14
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
ACTC11 |
-- |
actin, alpha, cardiac muscle 1 |
92.4(n) 100(a) |
478250 XM_535424.2 XP_535424.1 |
chimpanzee (Pan troglodytes) |
ACTC11 |
-- |
actin, alpha, cardiac muscle 1 |
99.65(n) 100(a) |
453307 XM_001135141.1 XP_001135141.1 |
cow (Bos taurus) |
ACTC11 |
-- |
actin, alpha, cardiac muscle 1 |
93.19(n) 100(a) |
533219 NM_001034585.1 NP_001029757.1 |
rat (Rattus norvegicus) |
Actc11 |
-- |
actin, alpha, cardiac muscle 1 |
90.8(n) 100(a) |
29275 NM_019183.1 NP_062056.1 |
mouse (Mus musculus) |
Actc11, 5 |
2 (64.00 cM)5
|
actin, alpha, cardiac muscle 11, 5 |
92.31(n)1 100(a)1 |
114641 NM_009608.21 NP_033738.11 AK0143035 AK0143075 (see all 24) |
About this table Species with no ortholog for ACTC1
ENSEMBL Gene Tree for ACTC1 | Paralogs for ACTC1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ACTC1 gene
- ACTA22 ACTG22
|
SNPs/Variants for ACTC1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ACTC1 (up to first 250kb)
|
Disorders & Mutations for ACTC1
(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: 102540 UniProtKB/Swiss-Prot: ACTC_HUMAN, P68032
Defects in ACTC1 are the cause of cardiomyopathy dilated type 1R (CMD1R) [MIM:102540]. 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 cardiomyopathy familial hypertrophic 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 death10/93 Novoseek disease relationships for ACTC1 gene (see all 93
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| myoepithelioma |
85.47 |
7 |
9431536 (2), 15619979 (1), 15717758 (1), 7542546 (1) (see all 6) |
| leiomyosarcoma |
84.46 |
19 |
14576480 (2), 9298873 (2), 8872438 (1), 8140724 (1) (see all 17) |
| smooth muscle tumor |
83.69 |
4 |
12090595 (1), 12296754 (1), 16400320 (1), 8190481 (1) |
| stromal tumors |
83.36 |
1 |
7688213 (1) |
| gastrointestinal stromal tumor |
82.73 |
6 |
18996821 (1), 18976023 (1), 15232741 (1), 12483251 (1) |
| leiomyoma |
79.02 |
19 |
15307213 (1), 18208801 (1), 14576480 (1), 16293183 (1) (see all 18) |
| angiomyolipoma |
77.64 |
6 |
11485907 (1), 11033464 (1), 11914628 (1), 18620999 (1) (see all 6) |
| tumors |
77.16 |
288 |
9237180 (2), 15692950 (2), 15295674 (2), 7773942 (2) (see all 99) |
| rhabdoid tumor |
74.63 |
1 |
11468564 (1) |
| histiocytoma fibrous |
71.97 |
2 |
9236835 (1), 16740036 (1) |
About this table
GeneTests: ACTC1 Familial Hypertrophic Cardiomyopathy Human Gene Mutation Database: ACTC1 Human Genome Epidemiology Navigator: ACTC1 (1 document)
|
Medical News for ACTC1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ACTC1 (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
| 10/817 PubMed articles for ACTC1 gene (see all 817
):- Alpha-cardiac actin mutations produce atrial septal defects. (PubMed id 17947298)1, 3, 4 Matsson H....Dahl N. (2008)
- Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. (PubMed id 10330430)1, 3, 4 Mogensen J.... Boerglum A.D. (1999)
- Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. (PubMed id 10966831)1, 3, 4 Olson T.M....Fananapazir L. (2000)
- Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)1, 3, 4 Morita H....Seidman C.E. (2008)
- Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. (PubMed id 9563954)1, 3, 4 Olson T.M.... Keating M.T. (1998)
- Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q. (PubMed id 1639426)1, 2, 3 Kramer P.L....Litt M. (1992)
- 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)
- Molecular structure and evolutionary origin of human cardiac muscle actin gene. (PubMed id 6310553)3, 4 Hamada H.... Kakunaga T. (1982)
- Overexpression of cardiac actin with baculovirus is promoter dependent. (PubMed id 17765196)1, 3 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, 3 Iwasa M....Oda T. (2008)
|
Search for ACTC1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ACTC1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ACTC1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ACTC1(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 |
| Familial hypertrophic cardiomyopathy mutation database | http://www.angis.org.au/Databases/Heart/heartbreak.html | | GeneReviews | http://www.genetests.org/query?gene=ACTC1 |
|
| | | About This Section
| --
| Services for ACTC1(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 ACTC1:

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Incremental update: 13 Oct 2009
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