Details for: ACTC1

Gene ID: 70

Symbol: ACTC1

Ensembl ID: ENSG00000159251

Description: actin alpha cardiac muscle 1

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: cell of skeletal muscle (CL0000188)
    Fold Change: 11.32
    Marker Score: 8,616
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 7.89
    Marker Score: 3,985
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 5.86
    Marker Score: 35,216
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 4.52
    Marker Score: 100,939
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 4.13
    Marker Score: 1,359
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 4.11
    Marker Score: 54,692
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 4.06
    Marker Score: 14,435
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 2.32
    Marker Score: 2,896
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.84
    Marker Score: 695
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.64
    Marker Score: 520
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.63
    Marker Score: 10,804
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.55
    Marker Score: 3,641
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.53
    Marker Score: 1,440
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.52
    Marker Score: 487
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.51
    Marker Score: 1,010
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169,450
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 870
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 1.31
    Marker Score: 2,103
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.24
    Marker Score: 7,488
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 1.21
    Marker Score: 3,621
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2
    Marker Score: 18,743
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.19
    Marker Score: 1,440
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 1.06
    Marker Score: 597
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 1.06
    Marker Score: 32,720
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 796
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,827
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,051
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,396
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5,310
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.92
    Marker Score: 513
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.89
    Marker Score: 428
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.8
    Marker Score: 731
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.76
    Marker Score: 1,235
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 0.74
    Marker Score: 535
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.6
    Marker Score: 399
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 434
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.52
    Marker Score: 647
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.5
    Marker Score: 238
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.47
    Marker Score: 955
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.47
    Marker Score: 195
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 278
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 0.46
    Marker Score: 401
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.44
    Marker Score: 438
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.4
    Marker Score: 386
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 0.4
    Marker Score: 349
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.38
    Marker Score: 108
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.35
    Marker Score: 172
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.35
    Marker Score: 126
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.35
    Marker Score: 216
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.33
    Marker Score: 197
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.32
    Marker Score: 710
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 0.32
    Marker Score: 132
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.32
    Marker Score: 91
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.31
    Marker Score: 114
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.3
    Marker Score: 80
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.3
    Marker Score: 306
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.3
    Marker Score: 583
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.3
    Marker Score: 77
  • Cell Name: smooth muscle cell of small intestine (CL1000275)
    Fold Change: 0.26
    Marker Score: 68
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 0.23
    Marker Score: 75
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.23
    Marker Score: 74
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.23
    Marker Score: 153
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.23
    Marker Score: 223
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.23
    Marker Score: 67
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.23
    Marker Score: 78
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.22
    Marker Score: 128
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.22
    Marker Score: 117
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.22
    Marker Score: 711
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.22
    Marker Score: 65
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.21
    Marker Score: 93
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.21
    Marker Score: 130
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.21
    Marker Score: 174
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.21
    Marker Score: 93
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.21
    Marker Score: 392
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.2
    Marker Score: 837
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.19
    Marker Score: 304
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.18
    Marker Score: 106
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 0.18
    Marker Score: 44
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.16
    Marker Score: 335
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.16
    Marker Score: 117
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.16
    Marker Score: 109
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.16
    Marker Score: 63
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.15
    Marker Score: 320
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.15
    Marker Score: 51
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.15
    Marker Score: 53
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.15
    Marker Score: 44
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.15
    Marker Score: 75
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.15
    Marker Score: 165
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.15
    Marker Score: 2,586
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.15
    Marker Score: 37
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.14
    Marker Score: 137
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.14
    Marker Score: 100
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.14
    Marker Score: 62
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.13
    Marker Score: 212
  • Cell Name: dermis microvascular lymphatic vessel endothelial cell (CL2000041)
    Fold Change: 0.13
    Marker Score: 43
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.13
    Marker Score: 101
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.13
    Marker Score: 51

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 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.

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 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.

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 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

**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 EPD 1 Ensembl 1 GO 29 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 7 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 UniProtKB 5 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:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 Gene3D 1 Genevisible 1 GenomeRNAi 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.