Human Gene ACTC1 (ENST00000290378.6) from GENCODE V44
  Description: Homo sapiens actin alpha cardiac muscle 1 (ACTC1), mRNA. (from RefSeq NM_005159)
RefSeq Summary (NM_005159): 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].
Gencode Transcript: ENST00000290378.6
Gencode Gene: ENSG00000159251.9
Transcript (Including UTRs)
   Position: hg38 chr15:34,790,230-34,795,549 Size: 5,320 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr15:34,790,412-34,794,808 Size: 4,397 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:34,790,230-34,795,549)mRNA (may differ from genome)Protein (377 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACTC_HUMAN
DESCRIPTION: RecName: Full=Actin, alpha cardiac muscle 1; AltName: Full=Alpha-cardiac actin; Flags: Precursor;
FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
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.
PTM: 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).
DISEASE: 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.
DISEASE: 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.
DISEASE: 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.
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.
SIMILARITY: Belongs to the actin family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACTC1";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ACTC1
Diseases sorted by gene-association score: cardiomyopathy, dilated, 1r* (1329), atrial septal defect 5* (1329), cardiomyopathy, hypertrophic, 11* (1200), actc1-related dilated cardiomyopathy* (500), patent foramen ovale* (158), actc1-related familial hypertrophic cardiomyopathy* (100), familial isolated dilated cardiomyopathy* (67), left ventricular noncompaction* (57), progressive nodular histiocytosis (18), ovarian fibrothecoma (18), anaplastic ganglioglioma (18), glomangiomyoma (18), lymphangiectasis (18), malignant giant cell tumor (18), scleromyxedema (18), fibroblastic rheumatism (17), breast leiomyoma (17), pyogenic granuloma (16), epithelioid leiomyosarcoma (15), chickenpox (15), cardiomyopathy (14), malignant giant cell tumor of soft parts (13), glycogen-rich clear cell breast carcinoma (13), polymorphous low-grade adenocarcinoma (13), intravascular papillary endothelial hyperplasia (13), fasciitis (13), bizarre leiomyoma (13), cutaneous leiomyosarcoma (13), myopericytoma (12), spindle cell carcinoma (12), glomus tumor (12), fibroma (12), dilated cardiomyopathy (11), myofibromatosis, infantile, 1 (11), leiomyosarcoma (11), ossifying fibromyxoid tumor (11), binswanger's disease (11), spindle cell lipoma (10), parachordoma (10), chondromyxoid fibroma (10), cardiomyopathy, familial hypertrophic (10), fibromatosis (10), myxoid leiomyosarcoma (10), ischemic fasciitis (10), angiomyolipoma (10), pseudosarcomatous fibromatosis (9), undifferentiated pleomorphic sarcoma (9), botryoid rhabdomyosarcoma (9), light chain deposition disease (9), benign metastasizing leiomyoma (9), pulmonary vein stenosis (9), angiocentric glioma (9), angiolipoma (9), congenital fibrosarcoma (9), dermatofibrosarcoma protuberans (9), gastrointestinal stromal tumor (8), epithelial-myoepithelial carcinoma (8), leiomyoma (8), granulosa cell tumor of the ovary (8), necrotizing sialometaplasia (8), adenofibroma (8), restrictive cardiomyopathy (8), perivascular epithelioid cell tumor (8), fibrous histiocytoma (8), cutaneous fibrous histiocytoma (8), pleomorphic adenoma (8), hemangiopericytoma, malignant (8), myoepithelial carcinoma (7), endometrial stromal sarcoma (7), glomangioma (7), spindle cell sarcoma (7), lymphangioma (7), syringocystadenoma papilliferum (7), cystic nephroma (7), smooth muscle tumor (7), dedifferentiated liposarcoma (7), pleomorphic liposarcoma (7), horseshoe kidney (7), dextrocardia (7), chondroma (7), giant cell tumor (6), non-langerhans-cell histiocytosis (6), hemangioma (6), infantile myofibromatosis (6), rhabdoid cancer (6), mucoepidermoid carcinoma (6), malignant peripheral nerve sheath tumor (6), teratoma (6), juvenile nasopharyngeal angiofibroma (6), spiradenoma (6), reticulum cell sarcoma (6), dendritic cell tumor (5), inflammatory myofibroblastic tumor (5), desmoplastic small round cell tumor (4), intrinsic cardiomyopathy (4), polycystic liver disease 1 (4), atrial heart septal defect (4), heart disease (3), refractive error (2), gliosarcoma (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001564 Benzo(a)pyrene
  • D002994 Clofibrate
  • D005492 Folic Acid
  • D015056 1-Methyl-3-isobutylxanthine
  • C518576 2-methylbutyric acid 4-((1,3)dioxan-5-ylmethoxyimino)-8-(2-(4-hydroxy-6-oxo-tetrahydropyran-2-yl)ethyl -7-methyl-6-oxo-1,2,3,4,6,7,8,8a-octahydronaphthyl)heptanoate
  • D000082 Acetaminophen
  • D019342 Acetic Acid
  • D000171 Acrolein
  • D016604 Aflatoxin B1
  • C487049 BXL628
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2064.08 RPKM in Heart - Atrial Appendage
Total median expression: 3859.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.0066-0.136 Picture PostScript Text
3' UTR -27.30182-0.150 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004000 - Actin-like
IPR020902 - Actin/actin-like_CS
IPR004001 - Actin_CS

Pfam Domains:
PF00022 - Actin

ModBase Predicted Comparative 3D Structure on P68032
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0017022 myosin binding

Biological Process:
GO:0010628 positive regulation of gene expression
GO:0030048 actin filament-based movement
GO:0030049 muscle filament sliding
GO:0030240 skeletal muscle thin filament assembly
GO:0031032 actomyosin structure organization
GO:0033275 actin-myosin filament sliding
GO:0042493 response to drug
GO:0043066 negative regulation of apoptotic process
GO:0045471 response to ethanol
GO:0055003 cardiac myofibril assembly
GO:0055008 cardiac muscle tissue morphogenesis
GO:0060047 heart contraction
GO:0060048 cardiac muscle contraction
GO:0070252 actin-mediated cell contraction
GO:0090131 mesenchyme migration

Cellular Component:
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005884 actin filament
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0030017 sarcomere
GO:0030027 lamellipodium
GO:0030175 filopodium
GO:0031674 I band
GO:0042643 actomyosin, actin portion
GO:0044297 cell body
GO:0070062 extracellular exosome
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  AK056592 - Homo sapiens cDNA FLJ32030 fis, clone NTONG2000040, highly similar to Actin, alpha cardiac.
BC009978 - Homo sapiens actin, alpha, cardiac muscle 1, mRNA (cDNA clone MGC:16637 IMAGE:4121697), complete cds.
AK129892 - Homo sapiens cDNA FLJ26382 fis, clone HRT06756, highly similar to Actin, alpha cardiac.
AK129902 - Homo sapiens cDNA FLJ26392 fis, clone HRT07595, highly similar to Actin, alpha cardiac.
JD235237 - Sequence 216261 from Patent EP1572962.
AK290616 - Homo sapiens cDNA FLJ78096 complete cds, highly similar to Homo sapiens actin, alpha, cardiac muscle (ACTC), mRNA.
JD100049 - Sequence 81073 from Patent EP1572962.
JD303767 - Sequence 284791 from Patent EP1572962.
JD080195 - Sequence 61219 from Patent EP1572962.
JD384966 - Sequence 365990 from Patent EP1572962.
JD525257 - Sequence 506281 from Patent EP1572962.
JD313805 - Sequence 294829 from Patent EP1572962.
KJ890621 - Synthetic construct Homo sapiens clone ccsbBroadEn_00015 ACTC1 gene, encodes complete protein.
KR710375 - Synthetic construct Homo sapiens clone CCSBHm_00012040 ACTC1 (ACTC1) mRNA, encodes complete protein.
KR710376 - Synthetic construct Homo sapiens clone CCSBHm_00012044 ACTC1 (ACTC1) mRNA, encodes complete protein.
KR710377 - Synthetic construct Homo sapiens clone CCSBHm_00012047 ACTC1 (ACTC1) mRNA, encodes complete protein.
KR710378 - Synthetic construct Homo sapiens clone CCSBHm_00012051 ACTC1 (ACTC1) mRNA, encodes complete protein.
DQ893096 - Synthetic construct clone IMAGE:100005726; FLH193710.01X; RZPDo839B0379D actin, alpha, cardiac muscle (ACTC) gene, encodes complete protein.
DQ896369 - Synthetic construct Homo sapiens clone IMAGE:100010829; FLH193706.01L; RZPDo839B0369D actin, alpha, cardiac muscle (ACTC) gene, encodes complete protein.
AB590199 - Synthetic construct DNA, clone: pFN21AE1390, Homo sapiens ACTC1 gene for actin, alpha, cardiac muscle 1, without stop codon, in Flexi system.
CR541795 - Homo sapiens full open reading frame cDNA clone RZPDo834A0631D for gene ACTC, actin, alpha, cardiac muscle; complete cds, without stopcodon.
CU679551 - Synthetic construct Homo sapiens gateway clone IMAGE:100017131 5' read ACTC1 mRNA.
LQ021071 - Sequence 14 from Patent WO2015144924.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04260 - Cardiac muscle contraction
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05414 - Dilated cardiomyopathy

-  Other Names for This Gene
  Alternate Gene Symbols: ACTC, ACTC_HUMAN, ENST00000290378.1, ENST00000290378.2, ENST00000290378.3, ENST00000290378.4, ENST00000290378.5, NM_005159, P04270, P68032, uc001ziu.1, uc001ziu.2, uc001ziu.3, uc001ziu.4
UCSC ID: ENST00000290378.6
RefSeq Accession: NM_005159
Protein: P68032 (aka ACTC_HUMAN)
CCDS: CCDS10041.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ACTC1:
dcm-ov (Dilated Cardiomyopathy Overview)
hyper-card (Hypertrophic Cardiomyopathy Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.