Details for: ACTA1

Gene ID: 58

Symbol: ACTA1

Ensembl ID: ENSG00000143632

Description: actin alpha 1, skeletal muscle

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 6.31
    Marker Score: 3188
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 4.74
    Marker Score: 28476
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.8
    Marker Score: 62525
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.97
    Marker Score: 2458
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.62
    Marker Score: 1176
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169765
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 1.28
    Marker Score: 409
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 861
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2
    Marker Score: 18774
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 490
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7686
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.05
    Marker Score: 802
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71837
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48062
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 512
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 465
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 377
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5355
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 328
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.9
    Marker Score: 3185
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.88
    Marker Score: 405
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8
    Marker Score: 3371
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 399
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.72
    Marker Score: 216
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.72
    Marker Score: 488.5
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.7
    Marker Score: 392
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.68
    Marker Score: 454
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.59
    Marker Score: 472.5
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.59
    Marker Score: 1197
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.59
    Marker Score: 375.5
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.58
    Marker Score: 1102
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.5
    Marker Score: 6700
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.48
    Marker Score: 128
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.48
    Marker Score: 157
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 279
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.44
    Marker Score: 440
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.39
    Marker Score: 419
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 0.39
    Marker Score: 282
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.39
    Marker Score: 124
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.39
    Marker Score: 127
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.39
    Marker Score: 122
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.38
    Marker Score: 183
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.32
    Marker Score: 195
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.32
    Marker Score: 140
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.31
    Marker Score: 311
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.3
    Marker Score: 79
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 0.28
    Marker Score: 245
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.28
    Marker Score: 272
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.27
    Marker Score: 106
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.25
    Marker Score: 67
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.25
    Marker Score: 155
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.25
    Marker Score: 109
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.23
    Marker Score: 178
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.22
    Marker Score: 76
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.22
    Marker Score: 125
  • Cell Name: tendon cell (CL0000388)
    Fold Change: 0.21
    Marker Score: 52
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.18
    Marker Score: 343
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.18
    Marker Score: 621.5
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.17
    Marker Score: 70
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.17
    Marker Score: 53
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.16
    Marker Score: 67
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.16
    Marker Score: 76.5
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.15
    Marker Score: 156
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.14
    Marker Score: 90
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.14
    Marker Score: 230
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.13
    Marker Score: 65
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.13
    Marker Score: 55
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 0.13
    Marker Score: 140
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.11
    Marker Score: 75
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.11
    Marker Score: 174
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.11
    Marker Score: 41
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.11
    Marker Score: 227
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.1
    Marker Score: 56
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.1
    Marker Score: 412
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.1
    Marker Score: 61
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.1
    Marker Score: 64
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.1
    Marker Score: 184
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.09
    Marker Score: 94.5
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 0.09
    Marker Score: 60
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.09
    Marker Score: 32
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.09
    Marker Score: 49
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.09
    Marker Score: 145
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.09
    Marker Score: 50
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.08
    Marker Score: 119
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.08
    Marker Score: 93
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.08
    Marker Score: 28
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.08
    Marker Score: 282
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.07
    Marker Score: 56

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Other Information

**Key characteristics:** * The ACTA1 gene is located on chromosome 1q21.1. * It is a large gene, encoding a protein of 1,804 amino acids. * ACTA1 is a member of the actin family of cytoskeletal proteins. * It is expressed in a variety of cell types, including lymphocytes, fibroblasts, cardiac muscle cells, and stem cells. **Pathways and functions:** * ACTA1 is a key regulator of muscle contraction. * It binds to actin monomers and recruits them to sites of actin polymerization, leading to muscle contraction. * It also binds to myosin heads, which head the myosin proteins that interact with actin to form muscle filaments. * ACTA1 is involved in a variety of cellular processes, including cell migration, cell signaling, and tissue development. **Clinical significance:** * Mutations in the ACTA1 gene have been linked to a number of human diseases, including cardiac hypertrophy, cardiomyopathy, and skeletal muscle disorders. * ACTA1 inhibitors are being investigated as potential treatments for these diseases. * Understanding the role of ACTA1 in muscle function and disease is important for developing new therapeutic strategies. **Additional notes:** * The ACTA1 gene is also expressed in non-muscle tissues, where it helps to maintain the integrity of the cytoskeleton. * Mutations in the ACTA1 gene can also lead to the development of benign tumors called rhabdomyomas.

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 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 27 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 9 OrthoDB 1 PANTHER 2 PDB 4 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 UniProtKB 5 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. For the full schema, download it here.