Description: Homo sapiens actin, beta (ACTB), mRNA. RefSeq Summary (NM_001101): This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]. Transcript (Including UTRs) Position: hg19 chr7:5,566,779-5,570,232 Size: 3,454 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr7:5,567,379-5,569,288 Size: 1,910 Coding Exon Count: 5
ID:ACTB_HUMAN DESCRIPTION: RecName: Full=Actin, cytoplasmic 1; AltName: Full=Beta-actin; Contains: RecName: Full=Actin, cytoplasmic 1, N-terminally processed; 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. Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Found in a complex with XPO6, Ran, ACTB and PFN1. Component of the MLL5-L complex, at least composed of MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with XPO6 and EMD. Interacts with ERBB2. Interacts with GCSAM. INTERACTION: Q9Y281:CFL2; NbExp=2; IntAct=EBI-353944, EBI-351218; P04626:ERBB2; NbExp=10; IntAct=EBI-353944, EBI-641062; Q8TCJ0-2:FBXO25; NbExp=3; IntAct=EBI-353944, EBI-6264551; P11142:HSPA8; NbExp=2; IntAct=EBI-353944, EBI-351896; P84022:SMAD3; NbExp=3; IntAct=EBI-353944, EBI-347161; P37802:TAGLN2; NbExp=3; IntAct=EBI-353944, EBI-1056740; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. PTM: ISGylated. PTM: Oxidation of Met-44 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 ACTB are a cause of dystonia juvenile-onset (DYTJ) [MIM:607371]. DYTJ is a form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTJ patients manifest progressive, generalized, dopa- unresponsive dystonia, developmental malformations and sensory hearing loss. DISEASE: Defects in ACTB are the cause of Baraitser-Winter syndrome type 1 (BRWS1) [MIM:243310]. A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. 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=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ACTBID42959ch7p22.html"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/actb/"; WEB RESOURCE: Name=Mendelian genes actin, beta (ACTB); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/ACTB";
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 P60709
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000166 nucleotide binding GO:0005200 structural constituent of cytoskeleton GO:0005515 protein binding GO:0005524 ATP binding GO:0019894 kinesin binding GO:0019901 protein kinase binding GO:0030957 Tat protein binding GO:0042802 identical protein binding GO:0050998 nitric-oxide synthase binding GO:0098973 structural constituent of postsynaptic actin cytoskeleton GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0031492 nucleosomal DNA binding
Biological Process: GO:0001895 retina homeostasis GO:0016579 protein deubiquitination GO:0021762 substantia nigra development GO:0032091 negative regulation of protein binding GO:0034329 cell junction assembly GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0043044 ATP-dependent chromatin remodeling GO:0045815 positive regulation of gene expression, epigenetic GO:0048013 ephrin receptor signaling pathway GO:0048870 cell motility GO:0061024 membrane organization GO:0070527 platelet aggregation GO:0072749 cellular response to cytochalasin B GO:0098974 postsynaptic actin cytoskeleton organization
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