Details for: ACTL6A

Gene ID: 86

Symbol: ACTL6A

Ensembl ID: ENSG00000136518

Description: actin like 6A

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: oogonial cell (CL0000024)
    Fold Change: 1.96
    Marker Score: 2,822
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.72
    Marker Score: 3,586
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.57
    Marker Score: 2,671
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.52
    Marker Score: 1,030
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.49
    Marker Score: 1,399
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.49
    Marker Score: 1,550
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.38
    Marker Score: 1,478
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.38
    Marker Score: 3,750
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.36
    Marker Score: 1,439
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.31
    Marker Score: 1,391
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.29
    Marker Score: 1,304
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.26
    Marker Score: 1,582
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.23
    Marker Score: 5,042
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.22
    Marker Score: 16,142
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.22
    Marker Score: 816
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.22
    Marker Score: 3,320
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.21
    Marker Score: 2,864
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.2
    Marker Score: 756
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.19
    Marker Score: 342
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.16
    Marker Score: 4,545
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.15
    Marker Score: 860
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.14
    Marker Score: 628
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.14
    Marker Score: 2,674
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.02
    Marker Score: 240
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.02
    Marker Score: 4,402
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.02
    Marker Score: 1,498
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,684
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,908
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.99
    Marker Score: 1,070
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.99
    Marker Score: 8,506
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,388
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.98
    Marker Score: 6,351
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.97
    Marker Score: 2,876
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.96
    Marker Score: 15,061
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.95
    Marker Score: 236
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,392
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.92
    Marker Score: 262
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 475
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 434
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5,203
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.9
    Marker Score: 1,203
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,691
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.89
    Marker Score: 1,371
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.88
    Marker Score: 8,903
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.88
    Marker Score: 912
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,287
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.87
    Marker Score: 821
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.86
    Marker Score: 970
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.86
    Marker Score: 29,857
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.86
    Marker Score: 1,526
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.85
    Marker Score: 167
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.85
    Marker Score: 782
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 306
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.84
    Marker Score: 319
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.84
    Marker Score: 440
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.83
    Marker Score: 241
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.83
    Marker Score: 605
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.83
    Marker Score: 2,021
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.82
    Marker Score: 1,160
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.82
    Marker Score: 466
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.81
    Marker Score: 298
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.79
    Marker Score: 396
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.79
    Marker Score: 8,938
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.79
    Marker Score: 5,903
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 317
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,263
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.78
    Marker Score: 1,772
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.78
    Marker Score: 233
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 589
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.77
    Marker Score: 411
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.76
    Marker Score: 1,736
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.76
    Marker Score: 1,210
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.76
    Marker Score: 2,926
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.76
    Marker Score: 1,239
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.74
    Marker Score: 961
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.74
    Marker Score: 307
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.74
    Marker Score: 2,740
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.74
    Marker Score: 195
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.73
    Marker Score: 389
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.73
    Marker Score: 766
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.73
    Marker Score: 356
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.73
    Marker Score: 185
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.73
    Marker Score: 647
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.72
    Marker Score: 253
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 373
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.72
    Marker Score: 449
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.72
    Marker Score: 729
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.72
    Marker Score: 1,810
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.72
    Marker Score: 4,576
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.71
    Marker Score: 247
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.71
    Marker Score: 4,227
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.71
    Marker Score: 338
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.71
    Marker Score: 455
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.71
    Marker Score: 425
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.7
    Marker Score: 1,126
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.7
    Marker Score: 330
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.7
    Marker Score: 340
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.7
    Marker Score: 358
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.69
    Marker Score: 2,889
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.69
    Marker Score: 543

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** The ACTL6A gene exhibits several key characteristics that distinguish it from other genes. These include: 1. **Actin-like properties**: The ACTL6A protein has actin-like properties, including the ability to bind to DNA and regulate chromatin organization. 2. **Chromatin remodeling**: ACTL6A is involved in chromatin remodeling, a process that reorganizes the structure of chromatin to regulate gene expression. 3. **DNA repair**: The gene plays a role in DNA repair, particularly in the repair of double-strand breaks. 4. **Transcriptional regulation**: ACTL6A regulates transcriptional activity by interacting with RNA polymerase II and other transcription factors. 5. **Cellular localization**: The gene is highly expressed in cells of the nervous system, particularly during embryonic development. **Pathways and Functions** The ACTL6A gene is involved in several cellular pathways, including: 1. **Blastocyst formation**: ACTL6A plays a role in the formation of the blastocyst, a critical stage in embryonic development. 2. **Brahma complex**: The gene is involved in the regulation of the Brahma complex, a protein complex that regulates chromatin organization. 3. **Chromatin organization**: ACTL6A regulates chromatin organization by interacting with histone-modifying enzymes and other chromatin-associated proteins. 4. **DNA repair**: The gene plays a role in DNA repair, particularly in the repair of double-strand breaks. 5. **Transcriptional regulation**: ACTL6A regulates transcriptional activity by interacting with RNA polymerase II and other transcription factors. **Clinical Significance** The ACTL6A gene has several clinical implications, including: 1. **Neurodevelopmental disorders**: Mutations in the ACTL6A gene have been associated with neurodevelopmental disorders, such as autism and schizophrenia. 2. **Cancer**: The gene may play a role in cancer development, particularly in the regulation of cell proliferation and differentiation. 3. **Neurodegenerative diseases**: ACTL6A may be involved in the pathogenesis of neurodegenerative diseases, such as Alzheimer's and Parkinson's disease. 4. **Gene therapy**: The gene's role in transcriptional regulation and chromatin organization makes it a potential target for gene therapy. In conclusion, the ACTL6A gene plays a critical role in various cellular processes, including chromatin organization, DNA repair, and transcriptional regulation. Its clinical significance is evident in its association with neurodevelopmental disorders, cancer, and neurodegenerative diseases. Further research is needed to fully understand the gene's function and its potential therapeutic applications.

Genular Protein ID: 1168946331

Symbol: ACL6A_HUMAN

Name: Actin-like protein 6A

UniProtKB Accession Codes:

O96019 B3KMN1 D3DNR9 Q8TAE5 Q9BVS8 Q9H0W6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 21 DIP 1 DNASU 1 DisGeNET 1 EMBL 12 EMDB 3 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 51 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 3 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 5 RefSeq 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9845365

Title: Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling.

PubMed ID: 9845365

DOI: 10.1016/s0092-8674(00)81633-5

PubMed ID: 10380635

Title: Two isoforms of a human actin-related protein show nuclear localization and mutually selective expression between brain and other tissues.

PubMed ID: 10380635

DOI: 10.1271/bbb.63.917

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 12963728

Title: Identification of new subunits of the multiprotein mammalian TRRAP/TIP60-containing histone acetyltransferase complex.

PubMed ID: 12963728

DOI: 10.1074/jbc.c300389200

PubMed ID: 10966108

Title: Involvement of the TIP60 histone acetylase complex in DNA repair and apoptosis.

PubMed ID: 10966108

DOI: 10.1016/s0092-8674(00)00051-9

PubMed ID: 11509179

Title: The p400 complex is an essential E1A transformation target.

PubMed ID: 11509179

DOI: 10.1016/s0092-8674(01)00450-0

PubMed ID: 11839798

Title: BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation.

PubMed ID: 11839798

DOI: 10.1128/mcb.22.5.1307-1316.2002

PubMed ID: 15196461

Title: The highly conserved and multifunctional NuA4 HAT complex.

PubMed ID: 15196461

DOI: 10.1016/j.gde.2004.02.009

PubMed ID: 14966270

Title: Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans.

PubMed ID: 14966270

DOI: 10.1128/mcb.24.5.1884-1896.2004

PubMed ID: 16230350

Title: A mammalian chromatin remodeling complex with similarities to the yeast INO80 complex.

PubMed ID: 16230350

DOI: 10.1074/jbc.m509128200

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18026119

Title: A YY1-INO80 complex regulates genomic stability through homologous recombination-based repair.

PubMed ID: 18026119

DOI: 10.1038/nsmb1332

PubMed ID: 18765789

Title: Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex.

PubMed ID: 18765789

DOI: 10.1101/gad.471408

PubMed ID: 18922472

Title: Distinct modes of regulation of the Uch37 deubiquitinating enzyme in the proteasome and in the Ino80 chromatin-remodeling complex.

PubMed ID: 18922472

DOI: 10.1016/j.molcel.2008.08.027

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21303910

Title: Subunit organization of the human INO80 chromatin remodeling complex: An evolutionarily conserved core complex catalyzes ATP-dependent nucleosome remodeling.

PubMed ID: 21303910

DOI: 10.1074/jbc.m111.222505

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 28649782

Title: Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

PubMed ID: 28649782

DOI: 10.1002/humu.23282

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 22952240

Title: SWI/SNF chromatin-remodeling factors: multiscale analyses and diverse functions.

PubMed ID: 22952240

DOI: 10.1074/jbc.r111.309302

PubMed ID: 26601204

Title: Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics.

PubMed ID: 26601204

DOI: 10.1126/sciadv.1500447

PubMed ID: 28533407

Title: Histone-binding of DPF2 mediates its repressive role in myeloid differentiation.

PubMed ID: 28533407

DOI: 10.1073/pnas.1700328114

PubMed ID: 29374058

Title: Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its paralog GLTSCR1-like form SWI/SNF chromatin remodeling subcomplexes.

PubMed ID: 29374058

DOI: 10.1074/jbc.ra117.001065

Sequence Information:

  • Length: 429
  • Mass: 47461
  • Checksum: ECD92D29BD1854E0
  • Sequence:
    • MSGGVYGGDE VGALVFDIGS YTVRAGYAGE DCPKVDFPTA IGMVVERDDG STLMEIDGDK 
GKQGGPTYYI DTNALRVPRE NMEAISPLKN GMVEDWDSFQ AILDHTYKMH VKSEASLHPV 
LMSEAPWNTR AKREKLTELM FEHYNIPAFF LCKTAVLTAF ANGRSTGLIL DSGATHTTAI 
PVHDGYVLQQ GIVKSPLAGD FITMQCRELF QEMNIELVPP YMIASKEAVR EGSPANWKRK 
EKLPQVTRSW HNYMCNCVIQ DFQASVLQVS DSTYDEQVAA QMPTVHYEFP NGYNCDFGAE 
RLKIPEGLFD PSNVKGLSGN TMLGVSHVVT TSVGMCDIDI RPGLYGSVIV AGGNTLIQSF 
TDRLNRELSQ KTPPSMRLKL IANNTTVERR FSSWIGGSIL ASLGTFQQMW ISKQEYEEGG 
KQCVERKCP

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.