Human Gene ACTA1 (ENST00000366684.7) from GENCODE V44
Description: Homo sapiens actin alpha 1, skeletal muscle (ACTA1), mRNA. (from RefSeq NM_001100) RefSeq Summary (NM_001100): 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 a variety of myopathies, including nemaline myopathy, 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 with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]. Gencode Transcript: ENST00000366684.7 Gencode Gene: ENSG00000143632.15 Transcript (Including UTRs) Position: hg38 chr1:229,431,245-229,434,094 Size: 2,850 Total Exon Count: 7 Strand: - Coding Region Position: hg38 chr1:229,431,499-229,433,115 Size: 1,617 Coding Exon Count: 6
ID:ACTS_HUMAN DESCRIPTION: RecName: Full=Actin, alpha skeletal muscle; AltName: Full=Alpha-actin-1; 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. Interacts with TTID. Interacts (via its C-terminus) with USP25; the interaction occurs for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells. 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 ACTA1 are the cause of nemaline myopathy type 3 (NEM3) [MIM:161800]. A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic examination. The phenotype at histological level is variable. Some patients present areas devoid of oxidative activity containg (cores) within myofibers. Core lesions are unstructured and poorly circumscribed. DISEASE: Defects in ACTA1 are a cause of myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]. A congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent. DISEASE: 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. 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/ACTA1";
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.
ModBase Predicted Comparative 3D Structure on P68133
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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.
LP886325 - Sequence 217 from Patent WO2017201352. LP978082 - Sequence 217 from Patent WO2017120612. BX648545 - Homo sapiens mRNA; cDNA DKFZp779F0855 (from clone DKFZp779F0855). AK300697 - Homo sapiens cDNA FLJ53662 complete cds, highly similar to Actin, alpha skeletal muscle. BC012597 - Homo sapiens actin, alpha 1, skeletal muscle, mRNA (cDNA clone MGC:13546 IMAGE:4291656), complete cds. AK096902 - Homo sapiens cDNA FLJ39583 fis, clone SKMUS2004897, highly similar to ACTIN, ALPHA SKELETAL MUSCLE. J00068 - Human adult skeletal muscle alpha-actin mRNA. JD371075 - Sequence 352099 from Patent EP1572962. JD211314 - Sequence 192338 from Patent EP1572962. CR536516 - Homo sapiens full open reading frame cDNA clone RZPDo834D1020D for gene ACTA1, actin, alpha 1, skeletal muscle; complete cds, incl. stopcodon. DQ892949 - Synthetic construct clone IMAGE:100005579; FLH191092.01X; RZPDo839H0476D actin, alpha 1, skeletal muscle (ACTA1) gene, encodes complete protein. KJ904413 - Synthetic construct Homo sapiens clone ccsbBroadEn_13807 ACTA1-like gene, encodes complete protein. AY280960 - Homo sapiens actin alpha 1 skeletal muscle protein (ACTA1) mRNA, complete cds; alternatively spliced. DQ896197 - Synthetic construct Homo sapiens clone IMAGE:100010657; FLH191088.01L; RZPDo839H0466D actin, alpha 1, skeletal muscle (ACTA1) gene, encodes complete protein. AB463394 - Synthetic construct DNA, clone: pF1KB6579, Homo sapiens ACTA1 gene for actin, alpha 1, skeletal muscle, without stop codon, in Flexi system. CR541796 - Homo sapiens full open reading frame cDNA clone RZPDo834B0631D for gene ACTA1, actin, alpha 1, skeletal muscle; complete cds, without stopcodon. DQ585304 - Homo sapiens piRNA piR-52416, complete sequence. DQ585303 - Homo sapiens piRNA piR-52415, complete sequence. DQ585302 - Homo sapiens piRNA piR-52414, complete sequence. DQ580140 - Homo sapiens piRNA piR-48252, complete sequence. MB419104 - JP 2019519516-A/66: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER. MB419969 - JP 2019519516-A/931: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_PDZsPathway - Synaptic Proteins at the Synaptic Junction h_actinYPathway - Y branching of actin filaments h_integrinPathway - Integrin Signaling Pathway h_hsp27Pathway - Stress Induction of HSP Regulation h_malPathway - Role of MAL in Rho-Mediated Activation of SRF h_ephA4Pathway - Eph Kinases and ephrins support platelet aggregation h_rabPathway - Rab GTPases Mark Targets In The Endocytotic Machinery h_mCalpainPathway - mCalpain and friends in Cell motility h_no1Pathway - Actions of Nitric Oxide in the Heart h_salmonellaPathway - How does salmonella hijack a cell h_agrPathway - Agrin in Postsynaptic Differentiation h_mPRPathway - How Progesterone Initiates the Oocyte Maturation h_metPathway - Signaling of Hepatocyte Growth Factor Receptor h_nfatPathway - NFAT and Hypertrophy of the heart (Transcription in the broken heart) h_ucalpainPathway - uCalpain and friends in Cell spread
US Server
