Details for: ACTC1

Gene ID: 70

Symbol: ACTC1

Ensembl ID: ENSG00000159251

Description: actin alpha cardiac muscle 1

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: cell of skeletal muscle (CL0000188)
    Fold Change: 11.32
    Marker Score: 8616
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 7.89
    Marker Score: 3985
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 5.86
    Marker Score: 35216
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 4.52
    Marker Score: 100939
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 4.13
    Marker Score: 1359
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 4.11
    Marker Score: 54692
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 4.06
    Marker Score: 14435
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 2.32
    Marker Score: 2896
  • 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: 10804
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.55
    Marker Score: 3641
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.53
    Marker Score: 1440
  • 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: 1010
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169450
  • 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: 2103
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.24
    Marker Score: 7488
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 1.21
    Marker Score: 3621
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2
    Marker Score: 18743
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.19
    Marker Score: 1440
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 1.06
    Marker Score: 597
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 1.06
    Marker Score: 32719.5
  • 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: 71827
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48051
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2396
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5309.5
  • 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: 1235
  • 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: 646.5
  • 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: 582.5
  • 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: 129.5
  • 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: 2586
  • 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

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Other Information

## Summary The ACTC1 gene encodes a protein called actin alpha cardiac muscle 1, which is a key component of the cardiac cytoskeleton. This protein is expressed in a variety of cell types in the heart, including skeletal muscle cells, lymphocytes, fibroblasts, cardiac muscle cells, atrial muscle cells, and smooth muscle cells. ## Key characteristics * **Function:** Acts as a structural protein, providing the backbone for the cardiac cytoskeleton. * **Location:** Found in the cytoplasm of cardiac cells. * **Structure:** A globular protein with a molecular weight of approximately 425 kDa. * **Isoform:** There is one known isoform of ACTC1, which is expressed in cardiac muscle cells. ## Pathways and functions * **Actin-myosin filament sliding:** ACTC1 is a key component of the cardiac cytoskeleton, where it interacts with myosin to form the actin-myosin filament. This complex is responsible for the sliding motion of cardiac muscle cells. * **Actin filament-based movement:** The actin-myosin filament is responsible for the characteristic muscle contractions in the heart. * **Actin filament organization:** ACTC1 is also involved in the organization of the cardiac cytoskeleton, where it helps to maintain the integrity and stability of the network. * **Actomyosin structure organization:** ACTC1 is a major component of the actomyosin structure, which is responsible for the periodic changes in muscle thickness that are characteristic of cardiac contraction. * **Atp binding:** ACTC1 is a substrate for ATP-dependent protein kinase (AKP), which is a key regulator of cardiac function. * **Hydrolase activity:** ACTC1 is a protease that is involved in the regulation of cardiac function. ## Clinical significance Mutations in the ACTC1 gene have been linked to a number of cardiovascular diseases, including cardiomyopathy, heart failure, and hypertension. These mutations can lead to the formation of abnormal cardiac myofilaments, which can disrupt the normal functioning of the heart muscle.

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. For the full schema, download it here.