Details for: ACTB

Gene ID: 60

Symbol: ACTB

Ensembl ID: ENSG00000075624

Description: actin beta

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 1812.3989
    Cell Significance Index: -281.9100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 1155.5200
    Cell Significance Index: -293.0900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 870.2320
    Cell Significance Index: -358.4900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 814.0411
    Cell Significance Index: -330.7100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 732.0555
    Cell Significance Index: -345.6200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 696.7735
    Cell Significance Index: -358.4100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 518.3286
    Cell Significance Index: -347.8100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 352.0634
    Cell Significance Index: -336.1300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 267.4711
    Cell Significance Index: -329.7800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 97.3415
    Cell Significance Index: -298.9800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 90.4145
    Cell Significance Index: -356.7800
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 68.4053
    Cell Significance Index: 284.7000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 60.9069
    Cell Significance Index: -133.3000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 23.9505
    Cell Significance Index: -64.1600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 19.0752
    Cell Significance Index: 352.5600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 12.5732
    Cell Significance Index: 369.2600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 12.5203
    Cell Significance Index: 329.2200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 10.8318
    Cell Significance Index: 509.0900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 10.7378
    Cell Significance Index: 1266.3200
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 10.5268
    Cell Significance Index: 28.2000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 7.9674
    Cell Significance Index: 1021.3800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 7.6898
    Cell Significance Index: 160.9600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 7.6338
    Cell Significance Index: 1048.3300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 6.9633
    Cell Significance Index: 899.6100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 6.4035
    Cell Significance Index: 477.2500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 6.0928
    Cell Significance Index: 3327.4500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 5.9967
    Cell Significance Index: 105.9700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 5.9607
    Cell Significance Index: 2635.3700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 5.7702
    Cell Significance Index: 157.0600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 5.4894
    Cell Significance Index: 354.1500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 5.2078
    Cell Significance Index: 640.3500
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 4.8170
    Cell Significance Index: 51.1800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 4.6836
    Cell Significance Index: 243.9600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 4.6760
    Cell Significance Index: 842.9300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 4.5242
    Cell Significance Index: 57.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 4.0494
    Cell Significance Index: 212.6100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 4.0272
    Cell Significance Index: 284.8200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 2.7123
    Cell Significance Index: 94.2500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 2.3028
    Cell Significance Index: 1743.0500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.0374
    Cell Significance Index: 586.2200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.0358
    Cell Significance Index: 201.3900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.5774
    Cell Significance Index: 17.9200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.4434
    Cell Significance Index: 67.3000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.3821
    Cell Significance Index: 277.2400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.3583
    Cell Significance Index: 269.5500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.0232
    Cell Significance Index: 27.3200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.8665
    Cell Significance Index: 9.4200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.7069
    Cell Significance Index: 120.7100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.6957
    Cell Significance Index: 1309.8300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4362
    Cell Significance Index: 83.0100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3829
    Cell Significance Index: 137.3500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.3693
    Cell Significance Index: 42.1500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.2638
    Cell Significance Index: 193.4000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1577
    Cell Significance Index: 2.6400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0341
    Cell Significance Index: 15.4800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0400
    Cell Significance Index: -4.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.1876
    Cell Significance Index: -138.9800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.1943
    Cell Significance Index: -358.4000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.2068
    Cell Significance Index: -318.4100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.2634
    Cell Significance Index: -358.1400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.3297
    Cell Significance Index: -205.8900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.3913
    Cell Significance Index: -248.5200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4618
    Cell Significance Index: -35.4400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.4929
    Cell Significance Index: -278.0000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.8623
    Cell Significance Index: -181.6300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.2210
    Cell Significance Index: -35.0000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -1.4669
    Cell Significance Index: -90.1600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -1.8454
    Cell Significance Index: -95.8700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -1.8456
    Cell Significance Index: -300.1700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -1.9471
    Cell Significance Index: -283.0400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -2.0003
    Cell Significance Index: -51.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -2.0671
    Cell Significance Index: -236.8200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -2.0727
    Cell Significance Index: -241.5500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -2.1669
    Cell Significance Index: -235.6900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -2.2321
    Cell Significance Index: -232.4200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -2.5910
    Cell Significance Index: -72.4100
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -2.8232
    Cell Significance Index: -24.2600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -2.9835
    Cell Significance Index: -200.6100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -3.0134
    Cell Significance Index: -238.6600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -3.0852
    Cell Significance Index: -173.1300
  • Cell Name: peg cell (CL4033014)
    Fold Change: -3.1913
    Cell Significance Index: -73.7300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -3.3939
    Cell Significance Index: -153.8400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -3.8913
    Cell Significance Index: -104.0900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -3.9761
    Cell Significance Index: -127.3500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -4.0504
    Cell Significance Index: -87.7500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -4.4077
    Cell Significance Index: -154.8800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -4.4191
    Cell Significance Index: -75.7300
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -4.7503
    Cell Significance Index: -81.8900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -5.2268
    Cell Significance Index: -329.4300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -5.5184
    Cell Significance Index: -44.0600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -5.5403
    Cell Significance Index: -75.5900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -5.6650
    Cell Significance Index: -347.3200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -5.9096
    Cell Significance Index: -88.5500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -6.5284
    Cell Significance Index: -186.3000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -6.8038
    Cell Significance Index: -105.2700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -6.8721
    Cell Significance Index: -303.9700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -6.9296
    Cell Significance Index: -204.1100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -6.9621
    Cell Significance Index: -58.4800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -6.9918
    Cell Significance Index: -174.7800
  • Cell Name: theca cell (CL0000503)
    Fold Change: -7.0000
    Cell Significance Index: -41.1300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** Actin Beta is a beta-actin isoform that is characterized by its high expression levels in cells, particularly in the cytoplasm. It is a monomeric actin protein that is involved in various cellular processes, including: 1. **Cytoskeletal dynamics**: Actin Beta is a key component of the cytoskeleton, which provides structural support, shape, and mechanical stability to cells. 2. **Cell signaling**: Actin Beta is involved in signaling pathways that regulate cell growth, differentiation, and migration. 3. **Cell-cell interactions**: Actin Beta plays a crucial role in cell-cell interactions, including adhesion, migration, and wound healing. 4. **Protein binding**: Actin Beta interacts with various proteins, including myosin, tropomyosin, and actin-associated proteins, to regulate cytoskeletal dynamics. **Pathways and Functions** Actin Beta is involved in various signaling pathways and cellular processes, including: 1. **Adherens junction interactions**: Actin Beta is involved in the formation and maintenance of adherens junctions, which are critical for cell-cell adhesion and tissue integrity. 2. **Axon guidance**: Actin Beta is involved in axon guidance and neuronal development, particularly in the formation of axons and synapses. 3. **Cell-extracellular matrix interactions**: Actin Beta interacts with extracellular matrix proteins to regulate cell migration, adhesion, and proliferation. 4. **Chaperonin-mediated protein folding**: Actin Beta is involved in the folding and assembly of actin filaments, which is essential for cytoskeletal dynamics. 5. **Rho GTPase cycle**: Actin Beta is involved in the Rho GTPase cycle, which regulates cytoskeletal dynamics, cell migration, and cell proliferation. **Clinical Significance** Dysregulation of Actin Beta has been implicated in various diseases, including: 1. **Cancer**: Alterations in Actin Beta expression and function have been observed in various types of cancer, including breast, lung, and colon cancer. 2. **Neurological disorders**: Actin Beta mutations have been associated with neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. 3. **Cardiovascular disease**: Actin Beta dysregulation has been implicated in cardiovascular disease, including hypertension and atherosclerosis. 4. **Infectious diseases**: Actin Beta is involved in the pathogenesis of infectious diseases, including Leishmania infection and parasitic infections. In conclusion, Actin Beta is a multifunctional protein that plays a critical role in various cellular processes, including cytoskeletal dynamics, cell signaling, and cell-cell interactions. Its dysregulation has been implicated in various diseases, making it an important target for therapeutic interventions.

Genular Protein ID: 2192474367

Symbol: ACTB_HUMAN

Name: Actin, cytoplasmic 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 6322116

Title: Evolutionary conservation in the untranslated regions of actin mRNAs: DNA sequence of a human beta-actin cDNA.

PubMed ID: 6322116

DOI: 10.1093/nar/12.3.1687

PubMed ID: 2994062

Title: Molecular structure of the human cytoplasmic beta-actin gene: interspecies homology of sequences in the introns.

PubMed ID: 2994062

DOI: 10.1073/pnas.82.18.6133

PubMed ID: 1734024

Title: Direct proof that the primary site of action of cytochalasin on cell motility processes is actin.

PubMed ID: 1734024

DOI: 10.1083/jcb.116.4.933

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 6842590

Title: Complementary DNA sequence of a human cytoplasmic actin. Interspecies divergence of 3' non-coding regions.

PubMed ID: 6842590

DOI: 10.1016/0022-2836(83)90117-1

PubMed ID: 11687588

Title: Nuclear DNA helicase II/RNA helicase A binds to filamentous actin.

PubMed ID: 11687588

DOI: 10.1074/jbc.m109393200

PubMed ID: 14592989

Title: Exportin 6: a novel nuclear export receptor that is specific for profilin.actin complexes.

PubMed ID: 14592989

DOI: 10.1093/emboj/cdg565

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 15328537

Title: Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane.

PubMed ID: 15328537

DOI: 10.1371/journal.pbio.0020231

PubMed ID: 16139798

Title: Proteomic identification of proteins conjugated to ISG15 in mouse and human cells.

PubMed ID: 16139798

DOI: 10.1016/j.bbrc.2005.08.132

PubMed ID: 17823310

Title: HGAL, a lymphoma prognostic biomarker, interacts with the cytoskeleton and mediates the effects of IL-6 on cell migration.

PubMed ID: 17823310

DOI: 10.1182/blood-2007-04-087775

PubMed ID: 17289661

Title: Molecular composition of IMP1 ribonucleoprotein granules.

PubMed ID: 17289661

DOI: 10.1074/mcp.m600346-mcp200

PubMed ID: 18765789

Title: Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex.

PubMed ID: 18765789

DOI: 10.1101/gad.471408

PubMed ID: 19015515

Title: Connecting actin monomers by iso-peptide bond is a toxicity mechanism of the Vibrio cholerae MARTX toxin.

PubMed ID: 19015515

DOI: 10.1073/pnas.0808082105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19377461

Title: GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis.

PubMed ID: 19377461

DOI: 10.1038/nature07954

PubMed ID: 24336203

Title: Retraction: GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis.

PubMed ID: 24336203

DOI: 10.1038/nature12896

PubMed ID: 21969592

Title: Tumor suppressor down-regulated in renal cell carcinoma 1 (DRR1) is a stress-induced actin bundling factor that modulates synaptic efficacy and cognition.

PubMed ID: 21969592

DOI: 10.1073/pnas.1103318108

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 21555369

Title: Nuclear ErbB2 enhances translation and cell growth by activating transcription of ribosomal RNA genes.

PubMed ID: 21555369

DOI: 10.1158/0008-5472.can-10-3504

PubMed ID: 23673617

Title: ALKBH4-dependent demethylation of actin regulates actomyosin dynamics.

PubMed ID: 23673617

DOI: 10.1038/ncomms2863

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26228148

Title: ACD toxin-produced actin oligomers poison formin-controlled actin polymerization.

PubMed ID: 26228148

DOI: 10.1126/science.aab4090

PubMed ID: 28604741

Title: A novel nuclear complex of DRR1, F-actin and COMMD1 involved in NF-kappaB degradation and cell growth suppression in neuroblastoma.

PubMed ID: 28604741

DOI: 10.1038/onc.2017.181

PubMed ID: 30028079

Title: NAT6 acetylates the N-terminus of different forms of actin.

PubMed ID: 30028079

DOI: 10.1111/febs.14605

PubMed ID: 29925947

Title: Nuclear ARP2/3 drives DNA break clustering for homology-directed repair.

PubMed ID: 29925947

DOI: 10.1038/s41586-018-0237-5

PubMed ID: 29581253

Title: NAA80 is actin's N-terminal acetyltransferase and regulates cytoskeleton assembly and cell motility.

PubMed ID: 29581253

DOI: 10.1073/pnas.1718336115

PubMed ID: 30526847

Title: SETD3 protein is the actin-specific histidine N-methyltransferase.

PubMed ID: 30526847

DOI: 10.7554/elife.37921

PubMed ID: 29343822

Title: The MICALs are a Family of F-actin Dismantling Oxidoreductases Conserved from Drosophila to Humans.

PubMed ID: 29343822

DOI: 10.1038/s41598-017-17943-5

PubMed ID: 36173861

Title: Actin maturation requires the ACTMAP/C19orf54 protease.

PubMed ID: 36173861

DOI: 10.1126/science.abq5082

PubMed ID: 30785395

Title: Structural insights into SETD3-mediated histidine methylation on beta-actin.

PubMed ID: 30785395

DOI: 10.7554/elife.43676

PubMed ID: 30626964

Title: SETD3 is an actin histidine methyltransferase that prevents primary dystocia.

PubMed ID: 30626964

DOI: 10.1038/s41586-018-0821-8

PubMed ID: 31388018

Title: Structural basis for the target specificity of actin histidine methyltransferase SETD3.

PubMed ID: 31388018

DOI: 10.1038/s41467-019-11554-6

PubMed ID: 32503840

Title: Characterization of SETD3 methyltransferase-mediated protein methionine methylation.

PubMed ID: 32503840

DOI: 10.1074/jbc.ra120.014072

PubMed ID: 31911441

Title: An engineered variant of SETD3 methyltransferase alters target specificity from histidine to lysine methylation.

PubMed ID: 31911441

DOI: 10.1074/jbc.ra119.012319

PubMed ID: 10411937

Title: A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.

PubMed ID: 10411937

DOI: 10.1073/pnas.96.15.8693

PubMed ID: 16685646

Title: A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

PubMed ID: 16685646

DOI: 10.1086/504271

PubMed ID: 22366783

Title: De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PubMed ID: 22366783

DOI: 10.1038/ng.1091

PubMed ID: 25255767

Title: Molecular mechanisms of disease-related human beta-actin mutations p.R183W and p.E364K.

PubMed ID: 25255767

DOI: 10.1111/febs.13068

PubMed ID: 28487785

Title: Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.

PubMed ID: 28487785

DOI: 10.1155/2017/9184265

PubMed ID: 28347698

Title: Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome.

PubMed ID: 28347698

DOI: 10.1016/j.jid.2017.03.017

PubMed ID: 29788902

Title: Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.

PubMed ID: 29788902

DOI: 10.1186/s11689-018-9235-z

PubMed ID: 30315159

Title: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

PubMed ID: 30315159

DOI: 10.1038/s41467-018-06713-0

PubMed ID: 30451859

Title:

PubMed ID: 30451859

DOI: 10.1038/s41467-018-07404-6

PubMed ID: 30733661

Title: Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

PubMed ID: 30733661

DOI: 10.1159/000492267

PubMed ID: 32170967

Title: Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.

PubMed ID: 32170967

DOI: 10.1111/cup.13683

PubMed ID: 35005077

Title: Dystonia-Deafness Syndrome: ACTB Pathogenic Variant in an Argentinean Family.

PubMed ID: 35005077

DOI: 10.1002/mdc3.13358

Sequence Information:

  • Length: 375
  • Mass: 41737
  • Checksum: 6AFD05CA94E360E2
  • Sequence:
  • MDDDIAALVV DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS 
    KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT 
    QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL 
    AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY 
    ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS 
    GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ 
    EYDESGPSIV HRKCF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.