Details for: ACTC1

Gene ID: 70

Symbol: ACTC1

Ensembl ID: ENSG00000159251

Description: actin alpha cardiac muscle 1

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: fetal cardiomyocyte (CL0002495)
    Fold Change: 24.8622
    Cell Significance Index: 71.2500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 24.5275
    Cell Significance Index: -11.5800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 12.4360
    Cell Significance Index: 183.6000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 5.2266
    Cell Significance Index: 56.8200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 5.1116
    Cell Significance Index: 268.3800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 3.6218
    Cell Significance Index: 277.9400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 1.9111
    Cell Significance Index: 46.6300
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.7123
    Cell Significance Index: 9.0100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.0869
    Cell Significance Index: 9.1300
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.8199
    Cell Significance Index: 13.2300
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.5543
    Cell Significance Index: 7.9600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.4467
    Cell Significance Index: 9.3500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.3024
    Cell Significance Index: 4.3500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.1041
    Cell Significance Index: 1.6100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0844
    Cell Significance Index: 52.7300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0024
    Cell Significance Index: -1.7600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0034
    Cell Significance Index: -1.5400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0059
    Cell Significance Index: -1.0600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0063
    Cell Significance Index: -11.8800
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: -0.0085
    Cell Significance Index: -0.0500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0104
    Cell Significance Index: -5.8800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0116
    Cell Significance Index: -5.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0151
    Cell Significance Index: -9.6100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0173
    Cell Significance Index: -13.0700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0224
    Cell Significance Index: -8.0200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0234
    Cell Significance Index: -12.7800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0254
    Cell Significance Index: -5.3500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0270
    Cell Significance Index: -2.7600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0292
    Cell Significance Index: -0.7500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0295
    Cell Significance Index: -5.0400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0334
    Cell Significance Index: -1.6900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0354
    Cell Significance Index: -1.4500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0400
    Cell Significance Index: -11.5000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0565
    Cell Significance Index: -11.3400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0567
    Cell Significance Index: -6.5000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0603
    Cell Significance Index: -11.9600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0674
    Cell Significance Index: -1.8800
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.0686
    Cell Significance Index: -0.4200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0697
    Cell Significance Index: -10.1300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0738
    Cell Significance Index: -8.4300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0751
    Cell Significance Index: -9.2300
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0811
    Cell Significance Index: -1.0400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0853
    Cell Significance Index: -11.7100
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.0936
    Cell Significance Index: -1.1400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0937
    Cell Significance Index: -12.1100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0956
    Cell Significance Index: -11.1500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1123
    Cell Significance Index: -2.7200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1242
    Cell Significance Index: -3.3800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1312
    Cell Significance Index: -13.6600
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.1516
    Cell Significance Index: -0.8900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1621
    Cell Significance Index: -12.0800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1646
    Cell Significance Index: -1.8700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1756
    Cell Significance Index: -11.0700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1835
    Cell Significance Index: -9.5300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1861
    Cell Significance Index: -11.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1884
    Cell Significance Index: -12.6700
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: -0.1902
    Cell Significance Index: -2.0500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1957
    Cell Significance Index: -10.9800
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.2001
    Cell Significance Index: -3.4500
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.2005
    Cell Significance Index: -2.4800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2084
    Cell Significance Index: -10.8600
  • Cell Name: differentiation-committed oligodendrocyte precursor (CL4023059)
    Fold Change: -0.2141
    Cell Significance Index: -2.5400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2218
    Cell Significance Index: -10.3400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2380
    Cell Significance Index: -1.6100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2504
    Cell Significance Index: -11.3500
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.2551
    Cell Significance Index: -2.5700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2641
    Cell Significance Index: -11.6800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2653
    Cell Significance Index: -7.1100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2702
    Cell Significance Index: -12.7000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2759
    Cell Significance Index: -8.1300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2789
    Cell Significance Index: -9.6900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2946
    Cell Significance Index: -4.9300
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.2956
    Cell Significance Index: -2.8500
  • Cell Name: ionocyte (CL0005006)
    Fold Change: -0.2975
    Cell Significance Index: -3.1100
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.3024
    Cell Significance Index: -4.0800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3055
    Cell Significance Index: -11.5700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.3241
    Cell Significance Index: -5.3400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3261
    Cell Significance Index: -11.9700
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.3320
    Cell Significance Index: -3.2500
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.3369
    Cell Significance Index: -1.4700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3511
    Cell Significance Index: -4.1900
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3711
    Cell Significance Index: -16.1400
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.3738
    Cell Significance Index: -4.0800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3934
    Cell Significance Index: -12.8800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.3984
    Cell Significance Index: -12.6000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3993
    Cell Significance Index: -13.9900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4054
    Cell Significance Index: -12.9100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4113
    Cell Significance Index: -11.7900
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.4206
    Cell Significance Index: -5.7600
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: -0.4256
    Cell Significance Index: -3.2700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.4278
    Cell Significance Index: -11.2500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4422
    Cell Significance Index: -12.6200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.4424
    Cell Significance Index: -11.0500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4445
    Cell Significance Index: -11.8700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.4481
    Cell Significance Index: -12.9100
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.4495
    Cell Significance Index: -4.3000
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.4499
    Cell Significance Index: -4.9700
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.4526
    Cell Significance Index: -2.3700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.4598
    Cell Significance Index: -11.7200
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.4804
    Cell Significance Index: -5.0700

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:** 1. **Expression Pattern:** ACTC1 is widely expressed in various cell types, including cardiac muscle cells, skeletal muscle cells, lymphocytes, and fibroblasts. 2. **Function:** ACTC1 is a crucial component of the cardiac sarcomere, the functional unit of striated muscle tissue, where it interacts with myosin and actin filaments to regulate muscle contraction. 3. **Structural Organization:** ACTC1 is part of the actin family, which is essential for maintaining cell shape, motility, and intracellular transport. 4. **Regulation:** ACTC1 is subject to post-translational modifications, such as phosphorylation and ubiquitination, which regulate its activity and interactions with other proteins. **Pathways and Functions:** 1. **Muscle Contraction:** ACTC1 is integral to the contractile apparatus of cardiac muscle cells, where it interacts with myosin and actin filaments to generate force. 2. **Cardiac Muscle Morphogenesis:** ACTC1 plays a role in the development and organization of cardiac muscle tissue, influencing cell morphology and function. 3. **Signaling Pathways:** ACTC1 is involved in various signaling pathways, including the Rho GTPase cycle, which regulates cell migration, cytoskeleton organization, and cell-cell interactions. 4. **Apoptosis Regulation:** ACTC1 can influence the regulation of apoptosis (programmed cell death) through interactions with other proteins and signaling pathways. **Clinical Significance:** 1. **Cardiac Disorders:** Mutations or dysregulation of ACTC1 have been implicated in various cardiac disorders, including hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmias. 2. **Muscle Disorders:** ACTC1 mutations have also been linked to skeletal muscle disorders, such as muscular dystrophy and myopathies. 3. **Cancer:** ACTC1 expression has been altered in various types of cancer, including breast, lung, and colon cancer, suggesting its potential as a biomarker or therapeutic target. 4. **Immunological Implications:** ACTC1 is expressed on the surface of lymphocytes and has been implicated in immune cell function and regulation, highlighting its potential role in immunological disorders. In conclusion, the ACTC1 gene plays a critical role in maintaining cardiac muscle function and structure, and its dysregulation has significant implications for cardiovascular health and disease. Further research is needed to fully understand the mechanisms by which ACTC1 regulates cardiac muscle function and to explore its potential as a therapeutic target for various cardiac and muscle disorders.

Genular Protein ID: 4090828517

Symbol: ACTC_HUMAN

Name: Actin, alpha cardiac muscle 1

UniProtKB Accession Codes:

P68032 P04270

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EMDB 2 Ensembl 1 GO 29 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 9 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 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 6310553

Title: Molecular structure and evolutionary origin of human cardiac muscle actin gene.

PubMed ID: 6310553

DOI: 10.1073/pnas.79.19.5901

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: 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: 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: 9563954

Title: Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

PubMed ID: 9563954

DOI: 10.1126/science.280.5364.750

PubMed ID: 10330430

Title: Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.

PubMed ID: 10330430

DOI: 10.1172/jci6460

PubMed ID: 10966831

Title: Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.

PubMed ID: 10966831

DOI: 10.1006/jmcc.2000.1204

PubMed ID: 14729850

Title: Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.

PubMed ID: 14729850

DOI: 10.1136/jmg.2003.010447

PubMed ID: 17947298

Title: Alpha-cardiac actin mutations produce atrial septal defects.

PubMed ID: 17947298

DOI: 10.1093/hmg/ddm302

PubMed ID: 18403758

Title: Shared genetic causes of cardiac hypertrophy in children and adults.

PubMed ID: 18403758

DOI: 10.1056/nejmoa075463

Sequence Information:

  • Length: 377
  • Mass: 42019
  • Checksum: E5C10FA19730CAD2
  • Sequence:
    • MCDDEETTAL 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 
LSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIS 
KQEYDEAGPS IVHRKCF

Genular Protein ID: 1176050590

Symbol: B3KPP5_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KPP5

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 Gene3D 1 InterPro 3 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 RuleBase 1 SMART 1 SMR 1 SUPFAM 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 186
  • Mass: 20944
  • Checksum: 45694094C71BCFBB
  • Sequence:
    • MKILTERGYS FVTTAEREIV RDIKEKLCYV ALDFENEMAT AASSSSLEKS YELPDGQVIT 
IGNERFRCPE TLFQPSFIGM ESAGIHETTY NSIMKCDIDI RKDLYANNVL SGGTTMYPGI 
ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL STFQQMWISK QEYDEAGPSI 
VHRKCF

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.