MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP000036

UniProt Annotations

Entry Information
Gene Nameactin, beta
Protein EntryACTB_HUMAN
UniProt IDP60709
SpeciesHuman
Comments
Comment typeDescription
DiseaseBaraitser-Winter syndrome 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. {ECO:0000269|PubMed:22366783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseDystonia, juvenile-onset (DYTJ) [MIM:607371]: A form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Patients with juvenile-onset dystonia manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss. {ECO:0000269|PubMed:16685646}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionActins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
InteractionP63261:ACTG1; NbExp=3; IntAct=EBI-353944, EBI-351292; Q9Y281:CFL2; NbExp=3; 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; Q8K4J6:Mkl1 (xeno); NbExp=3; IntAct=EBI-353944, EBI-8291665; O14950:MYL12B; NbExp=3; IntAct=EBI-353944, EBI-1642165; P14598:NCF1; NbExp=3; IntAct=EBI-353944, EBI-395044; Q92636:NSMAF; NbExp=2; IntAct=EBI-353944, EBI-2947053; P37802:TAGLN2; NbExp=3; IntAct=EBI-353944, EBI-1056740; P63104:YWHAZ; NbExp=3; IntAct=EBI-353944, EBI-347088;
MiscellaneousIn 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.
PtmISGylated. {ECO:0000269|PubMed:16139798}.
PtmMonomethylation at Lys-84 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.
PtmOxidation of Met-44 and Met-47 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization (By similarity). {ECO:0000250}.
SimilarityBelongs to the actin family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton {ECO:0000269|PubMed:17289661}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.
SubunitPolymerization 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 IGF2BP1-dependent mRNP granule complex containing 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 KMT2E/MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with XPO6 and EMD. Interacts with ERBB2. Interacts with GCSAM. {ECO:0000269|PubMed:14592989, ECO:0000269|PubMed:15328537, ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:17823310, ECO:0000269|PubMed:18765789, ECO:0000269|PubMed:19377461, ECO:0000269|PubMed:21555369}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ACTBID42959ch7p22.html";
Web ResourceName=Mendelian genes actin, beta (ACTB); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/ACTB";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/actb/";
  logo