Details for: ACTA1
Associated with
Cells (max top 100)
(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: lymphocyte (CL0000542)
Fold Change: 6.31
Marker Score: 3,188 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 4.74
Marker Score: 28,476 - Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 2.8
Marker Score: 62,525 - Cell Name: cardiac neuron (CL0010022)
Fold Change: 1.97
Marker Score: 2,458 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.62
Marker Score: 1,176 - Cell Name: mural cell (CL0008034)
Fold Change: 1.48
Marker Score: 169,765 - 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: 18,774 - 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: 7,686 - 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: 71,837 - Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48,062 - 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: 30,409 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2,413 - 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: 5,355 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.92
Marker Score: 2,743 - 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: 3,185 - 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: 5,291 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.8
Marker Score: 3,371 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1,269 - 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: 489 - 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: 473 - Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.59
Marker Score: 1,197 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.59
Marker Score: 376 - Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.58
Marker Score: 1,102 - 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: 6,700 - 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: 622 - 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: 77 - 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: 95 - 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
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 2576163141
Symbol: ACTS_HUMAN
Name: Actin, alpha skeletal muscle
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 6190133
Title: Isolation and characterization of cDNA clones for human skeletal muscle alpha actin.
PubMed ID: 6190133
PubMed ID: 2907503
Title: Nucleotide sequence and expression of the human skeletal alpha-actin gene: evolution of functional regulatory domains.
PubMed ID: 2907503
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
PubMed ID: 16501887
Title: The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins.
PubMed ID: 16501887
PubMed ID: 19015515
Title: Connecting actin monomers by iso-peptide bond is a toxicity mechanism of the Vibrio cholerae MARTX toxin.
PubMed ID: 19015515
PubMed ID: 21908771
Title: The first identification of lysine malonylation substrates and its regulatory enzyme.
PubMed ID: 21908771
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
PubMed ID: 30626964
Title: SETD3 is an actin histidine methyltransferase that prevents primary dystocia.
PubMed ID: 30626964
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
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
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
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
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
PubMed ID: 16945537
Title: Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
PubMed ID: 16945537
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
PubMed ID: 23650303
Title: Nemaline myopathy with dilated cardiomyopathy in childhood.
PubMed ID: 23650303
PubMed ID: 25938801
Title: Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
PubMed ID: 25938801
PubMed ID: 25635128
Title: Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
PubMed ID: 25635128
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.