Details for: ACTA1

Gene ID: 58

Symbol: ACTA1

Ensembl ID: ENSG00000143632

Description: actin alpha 1, skeletal muscle

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: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 28.3272
    Cell Significance Index: -7.1900
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 15.2059
    Cell Significance Index: 245.3500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 14.3008
    Cell Significance Index: 348.9300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 12.9310
    Cell Significance Index: -6.1100
  • Cell Name: secondary lymphoid organ macrophage (CL0000867)
    Fold Change: 5.4708
    Cell Significance Index: 40.1600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.6973
    Cell Significance Index: 206.9900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 2.4934
    Cell Significance Index: 79.8600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.7071
    Cell Significance Index: 28.1300
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.7174
    Cell Significance Index: 7.4900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.5169
    Cell Significance Index: 8.2000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.4775
    Cell Significance Index: 7.0500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4138
    Cell Significance Index: 67.3000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4056
    Cell Significance Index: 24.3500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3486
    Cell Significance Index: 66.3400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.2741
    Cell Significance Index: 4.1000
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.2303
    Cell Significance Index: 0.6600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2148
    Cell Significance Index: 4.5800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.1776
    Cell Significance Index: 2.5500
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.1748
    Cell Significance Index: 2.2900
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.1015
    Cell Significance Index: 1.4600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0779
    Cell Significance Index: 7.7100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.0717
    Cell Significance Index: 0.7800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0535
    Cell Significance Index: 1.1200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0405
    Cell Significance Index: 1.0400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0390
    Cell Significance Index: 4.2400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0093
    Cell Significance Index: 6.4600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0048
    Cell Significance Index: 0.9600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0012
    Cell Significance Index: 0.7500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0010
    Cell Significance Index: -0.5700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0014
    Cell Significance Index: -1.0300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0018
    Cell Significance Index: -0.6500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0019
    Cell Significance Index: -3.4800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0031
    Cell Significance Index: -4.7000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0036
    Cell Significance Index: -1.6100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0037
    Cell Significance Index: -5.0600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0039
    Cell Significance Index: -7.3400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0080
    Cell Significance Index: -1.6900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0086
    Cell Significance Index: -5.4700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0091
    Cell Significance Index: -1.5600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0094
    Cell Significance Index: -7.1100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0096
    Cell Significance Index: -0.6700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0121
    Cell Significance Index: -6.6300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0122
    Cell Significance Index: -5.5400
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0139
    Cell Significance Index: -0.1800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0143
    Cell Significance Index: -4.1200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0224
    Cell Significance Index: -4.0300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0244
    Cell Significance Index: -2.7800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0282
    Cell Significance Index: -5.6000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0292
    Cell Significance Index: -0.8400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0342
    Cell Significance Index: -3.9800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0360
    Cell Significance Index: -5.2400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0369
    Cell Significance Index: -4.2300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0388
    Cell Significance Index: -0.8400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0410
    Cell Significance Index: -5.0400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0439
    Cell Significance Index: -0.9100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0441
    Cell Significance Index: -5.7000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0494
    Cell Significance Index: -1.3800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0510
    Cell Significance Index: -7.0100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0515
    Cell Significance Index: -2.6000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0539
    Cell Significance Index: -5.5100
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0591
    Cell Significance Index: -0.5700
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.0604
    Cell Significance Index: -0.3700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0606
    Cell Significance Index: -1.5200
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0620
    Cell Significance Index: -0.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0656
    Cell Significance Index: -3.0600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0672
    Cell Significance Index: -4.5200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0688
    Cell Significance Index: -3.1200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0719
    Cell Significance Index: -4.5300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0731
    Cell Significance Index: -7.6200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0792
    Cell Significance Index: -4.8700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0792
    Cell Significance Index: -5.9000
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.0895
    Cell Significance Index: -1.0900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0917
    Cell Significance Index: -5.9200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0946
    Cell Significance Index: -4.9300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1070
    Cell Significance Index: -5.6200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1090
    Cell Significance Index: -2.6400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1093
    Cell Significance Index: -6.7000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1100
    Cell Significance Index: -5.1700
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.1116
    Cell Significance Index: -1.3800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1139
    Cell Significance Index: -6.3900
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.1158
    Cell Significance Index: -0.6800
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.1165
    Cell Significance Index: -1.1400
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.1189
    Cell Significance Index: -1.8400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1224
    Cell Significance Index: -6.3600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1252
    Cell Significance Index: -3.9600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1423
    Cell Significance Index: -5.8300
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.1441
    Cell Significance Index: -1.9600
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.1453
    Cell Significance Index: -1.3900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1540
    Cell Significance Index: -6.8100
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: -0.1606
    Cell Significance Index: -1.4900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1622
    Cell Significance Index: -2.7800
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1622
    Cell Significance Index: -1.7700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1632
    Cell Significance Index: -5.6700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1713
    Cell Significance Index: -4.5900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1755
    Cell Significance Index: -5.1700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1758
    Cell Significance Index: -6.1600
  • Cell Name: fibroblast of the aortic adventitia (CL0002547)
    Fold Change: -0.1774
    Cell Significance Index: -1.7900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1792
    Cell Significance Index: -6.5800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1793
    Cell Significance Index: -5.7100
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.1797
    Cell Significance Index: -1.9700

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:** ACTA1 is a gene that encodes for the alpha-1 isoform of the actin protein, which is a crucial component of the actin cytoskeleton. The actin cytoskeleton is a dynamic structure composed of actin filaments that provide mechanical support, shape, and mobility to cells. ACTA1 is specifically expressed in skeletal muscle tissue, where it plays a vital role in muscle contraction, cell signaling, and adaptation to various stimuli. **Pathways and Functions:** ACTA1 is involved in various cellular pathways that regulate muscle contraction, cell signaling, and adaptation to environmental changes. These pathways include: 1. **Muscle contraction:** ACTA1 is essential for the formation of thin filaments in skeletal muscle, which interact with myosin filaments to generate contractile force. 2. **Cytoskeleton dynamics:** ACTA1 regulates the dynamics of the actin cytoskeleton, which is critical for cell shape, mobility, and intracellular signaling. 3. **Cell signaling:** ACTA1 interacts with various signaling molecules, including myosin-binding proteins, to regulate muscle contraction and cell adaptation. 4. **Adaptation to stimuli:** ACTA1 is involved in the regulation of muscle fiber adaptation to various stimuli, including exercise, hypoxia, and oxidative stress. **Clinical Significance:** Dysregulation of ACTA1 has been implicated in various skeletal muscle-related disorders, including: 1. **Muscular dystrophy:** Mutations in ACTA1 have been identified in patients with muscular dystrophy, a group of genetic disorders characterized by progressive muscle weakness and degeneration. 2. **Muscle wasting:** ACTA1 dysregulation has been linked to muscle wasting disorders, including cachexia and sarcopenia. 3. **Muscle injury:** ACTA1 plays a critical role in the regulation of muscle fiber adaptation to injury, and dysregulation of ACTA1 has been implicated in the development of muscle damage and fibrosis. **Significantly Expressed Cells:** ACTA1 is expressed in a variety of cell types, including: 1. **Lymphocytes:** ACTA1 is expressed in lymphocytes, which are critical for immune responses. 2. **Fibroblasts:** ACTA1 is expressed in fibroblasts, which are involved in wound healing and tissue repair. 3. **Cardiac muscle cells:** ACTA1 is expressed in cardiac muscle cells, which are critical for heart function. 4. **Embryonic stem cells:** ACTA1 is expressed in embryonic stem cells, which are involved in development and tissue regeneration. In conclusion, ACTA1 is a critical gene that plays a pivotal role in skeletal muscle function and disease. Its dysregulation has been implicated in various skeletal muscle-related disorders, and further research is needed to fully understand the mechanisms underlying ACTA1-mediated muscle function and disease.

Genular Protein ID: 2576163141

Symbol: ACTS_HUMAN

Name: Actin, alpha skeletal muscle

UniProtKB Accession Codes:

P68133 P02568 P99020 Q5T8M9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 2 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 13 EMBL 8 Ensembl 1 ExpressionAtlas 1 GO 26 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 9 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRIDE 1 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 6190133

Title: Isolation and characterization of cDNA clones for human skeletal muscle alpha actin.

PubMed ID: 6190133

DOI: 10.1093/nar/11.11.3503

PubMed ID: 2907503

Title: Nucleotide sequence and expression of the human skeletal alpha-actin gene: evolution of functional regulatory domains.

PubMed ID: 2907503

DOI: 10.1016/0888-7543(88)90123-1

PubMed ID: 10508519

Title: Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

PubMed ID: 10508519

DOI: 10.1038/13837

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 10958653

Title: Myotilin is mutated in limb girdle muscular dystrophy 1A.

PubMed ID: 10958653

DOI: 10.1093/hmg/9.14.2141

PubMed ID: 16501887

Title: The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins.

PubMed ID: 16501887

DOI: 10.1007/s00018-005-5533-1

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: 21908771

Title: The first identification of lysine malonylation substrates and its regulatory enzyme.

PubMed ID: 21908771

DOI: 10.1074/mcp.m111.012658

PubMed ID: 23673617

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

PubMed ID: 23673617

DOI: 10.1038/ncomms2863

PubMed ID: 26228148

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

PubMed ID: 26228148

DOI: 10.1126/science.aab4090

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: 11333380

Title: Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

PubMed ID: 11333380

DOI: 10.1086/320605

PubMed ID: 12921789

Title: Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

PubMed ID: 12921789

DOI: 10.1016/s0960-8966(03)00101-9

PubMed ID: 11166164

Title: Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

PubMed ID: 11166164

DOI: 10.1016/s0960-8966(00)00167-x

PubMed ID: 15236405

Title: Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

PubMed ID: 15236405

DOI: 10.1002/ana.20157

PubMed ID: 15468086

Title: Actin mutations are one cause of congenital fibre type disproportion.

PubMed ID: 15468086

DOI: 10.1002/ana.20260

PubMed ID: 15198992

Title: Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

PubMed ID: 15198992

DOI: 10.1093/hmg/ddh185

PubMed ID: 15520409

Title: Missense mutations of ACTA1 cause dominant congenital myopathy with cores.

PubMed ID: 15520409

DOI: 10.1136/jmg.2004.020271

PubMed ID: 15336687

Title: Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

PubMed ID: 15336687

DOI: 10.1016/j.nmd.2004.05.016

PubMed ID: 16427282

Title: Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.

PubMed ID: 16427282

DOI: 10.1016/j.nmd.2005.11.004

PubMed ID: 16945537

Title: Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

PubMed ID: 16945537

DOI: 10.1016/j.nmd.2006.07.005

PubMed ID: 17387733

Title: The pathogenesis of ACTA1-related congenital fiber type disproportion.

PubMed ID: 17387733

DOI: 10.1002/ana.21112

PubMed ID: 17705262

Title: Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.

PubMed ID: 17705262

DOI: 10.1002/ana.21200

PubMed ID: 22442437

Title: Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.

PubMed ID: 22442437

DOI: 10.1212/wnl.0b013e31824e8ebe

PubMed ID: 23650303

Title: Nemaline myopathy with dilated cardiomyopathy in childhood.

PubMed ID: 23650303

DOI: 10.1542/peds.2012-1139

PubMed ID: 25938801

Title: Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

PubMed ID: 25938801

DOI: 10.1001/jamaneurol.2015.37

PubMed ID: 25635128

Title: Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

PubMed ID: 25635128

DOI: 10.1136/jmedgenet-2014-102819

PubMed ID: 29274205

Title: Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.

PubMed ID: 29274205

DOI: 10.1002/ajmg.a.38577

Sequence Information:

  • Length: 377
  • Mass: 42051
  • Checksum: DF2A3A046346A179
  • Sequence:
    • MCDEDETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA 
QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP EEHPTLLTEA PLNPKANREK 
MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL 
DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK 
SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV 
MSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIT 
KQEYDEAGPS IVHRKCF

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.