Details for: RECQL

Gene ID: 5965

Symbol: RECQL

Ensembl ID: ENSG00000004700

Description: RecQ like helicase

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 156.9961
    Cell Significance Index: -24.4200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 103.1961
    Cell Significance Index: -26.1800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 73.4074
    Cell Significance Index: -30.2400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 62.1035
    Cell Significance Index: -25.2300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 61.9754
    Cell Significance Index: -29.2600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 55.9308
    Cell Significance Index: -28.7700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 26.5438
    Cell Significance Index: -25.3400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 23.0381
    Cell Significance Index: -28.4100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.7537
    Cell Significance Index: -23.4500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.5620
    Cell Significance Index: -16.5500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.3390
    Cell Significance Index: -28.9600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.5148
    Cell Significance Index: -20.0100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 4.1786
    Cell Significance Index: 67.0400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.6596
    Cell Significance Index: 35.3500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.5780
    Cell Significance Index: 13.2600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.4788
    Cell Significance Index: 146.2900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.3456
    Cell Significance Index: 218.8500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.2281
    Cell Significance Index: 143.1200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8592
    Cell Significance Index: 51.5800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8363
    Cell Significance Index: 90.9600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.6960
    Cell Significance Index: 44.9100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.5606
    Cell Significance Index: 66.1200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4584
    Cell Significance Index: 56.3700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4273
    Cell Significance Index: 58.6900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3927
    Cell Significance Index: 78.7700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3828
    Cell Significance Index: 169.2600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3774
    Cell Significance Index: 74.8900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3723
    Cell Significance Index: 5.0800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3721
    Cell Significance Index: 67.0700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.3572
    Cell Significance Index: 10.4900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2869
    Cell Significance Index: 20.2900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.2716
    Cell Significance Index: 5.3000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2565
    Cell Significance Index: 48.8200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1966
    Cell Significance Index: 107.3700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1783
    Cell Significance Index: 5.1100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1487
    Cell Significance Index: 11.4100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1477
    Cell Significance Index: 52.9700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.1206
    Cell Significance Index: 1.3700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1107
    Cell Significance Index: 7.6600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0930
    Cell Significance Index: 11.9200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0884
    Cell Significance Index: 1.4800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0878
    Cell Significance Index: 60.7500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0686
    Cell Significance Index: 3.8500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0621
    Cell Significance Index: 2.9200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0500
    Cell Significance Index: 1.2500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0389
    Cell Significance Index: 1.1200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0340
    Cell Significance Index: 0.9100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0264
    Cell Significance Index: 1.3700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.0182
    Cell Significance Index: 0.1100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0069
    Cell Significance Index: 0.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0063
    Cell Significance Index: 0.3900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0028
    Cell Significance Index: 5.1800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0061
    Cell Significance Index: -9.4000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0072
    Cell Significance Index: -13.3000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0072
    Cell Significance Index: -9.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0080
    Cell Significance Index: -0.2800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0114
    Cell Significance Index: -7.2100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0159
    Cell Significance Index: -0.8300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0220
    Cell Significance Index: -16.1600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0286
    Cell Significance Index: -21.6500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0323
    Cell Significance Index: -3.3000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0344
    Cell Significance Index: -15.6100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0349
    Cell Significance Index: -25.8500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0427
    Cell Significance Index: -6.2100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0491
    Cell Significance Index: -27.6800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0523
    Cell Significance Index: -32.6700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0632
    Cell Significance Index: -1.7200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0688
    Cell Significance Index: -3.1200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0711
    Cell Significance Index: -20.4600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0867
    Cell Significance Index: -14.8100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0951
    Cell Significance Index: -2.5400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1365
    Cell Significance Index: -17.6300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1544
    Cell Significance Index: -32.5300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1596
    Cell Significance Index: -18.2800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1685
    Cell Significance Index: -12.5600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1780
    Cell Significance Index: -11.2200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1923
    Cell Significance Index: -3.9900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1989
    Cell Significance Index: -4.3100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2288
    Cell Significance Index: -6.0200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2448
    Cell Significance Index: -16.4600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2671
    Cell Significance Index: -27.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2738
    Cell Significance Index: -12.1100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2853
    Cell Significance Index: -9.9200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3034
    Cell Significance Index: -7.7500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3156
    Cell Significance Index: -8.8200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3235
    Cell Significance Index: -25.6200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3547
    Cell Significance Index: -13.4300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3554
    Cell Significance Index: -21.7900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3607
    Cell Significance Index: -18.2300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3637
    Cell Significance Index: -11.6500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3748
    Cell Significance Index: -19.6800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3771
    Cell Significance Index: -5.4200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3803
    Cell Significance Index: -10.1900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.4165
    Cell Significance Index: -9.1200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4338
    Cell Significance Index: -9.0800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4982
    Cell Significance Index: -11.5100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5293
    Cell Significance Index: -9.0700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.5362
    Cell Significance Index: -9.9100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5450
    Cell Significance Index: -14.0100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5738
    Cell Significance Index: -16.9000

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. **DNA Helicase Activity:** RECQL exhibits 3'-5' DNA helicase activity, which enables it to unwind double-stranded DNA, creating a replication fork or a repair site. 2. **ATP Binding and Hydrolysis:** The RECQL protein binds to ATP, which is then hydrolyzed to ADP, providing energy for DNA unwinding and repair processes. 3. **Cell Type-Specific Expression:** RECQL is significantly expressed in various cell types, including germ cells, skeletal muscle satellite stem cells, and blood cells, suggesting its importance in maintaining genome stability in different cell types. 4. **Genome Stability:** RECQL is involved in maintaining genome stability by regulating DNA replication, repair, and recombination, which are critical processes for preventing genetic mutations and cancer. **Pathways and Functions:** 1. **DNA Replication:** RECQL participates in the regulation of DNA replication by unwinding double-stranded DNA and creating a replication fork. 2. **DNA Repair:** RECQL is involved in the repair of double-strand breaks via homologous recombination, a process that ensures genome stability. 3. **Double-Strand Break Repair:** RECQL plays a crucial role in the repair of double-strand breaks, which can occur due to DNA damage or errors during replication. 4. **Replication Fork Processing:** RECQL is involved in the processing of replication forks, ensuring that DNA replication occurs efficiently and accurately. **Clinical Significance:** Dysregulation of RECQL has been implicated in various diseases, including: 1. **Cancer:** RECQL dysfunction can lead to genetic instability, increasing the risk of cancer. 2. **Neurological Disorders:** RECQL mutations have been associated with neurological disorders, such as ataxia and cerebellar degeneration. 3. **Genetic Disorders:** RECQL mutations can also lead to genetic disorders, such as immunodeficiency and developmental abnormalities. In conclusion, the RECQL gene plays a vital role in maintaining genome stability by regulating DNA replication, repair, and recombination. Its dysregulation has been implicated in various diseases, highlighting the importance of RECQL in human health and disease. Further research is needed to fully elucidate the mechanisms of RECQL and its implications for human disease.

Genular Protein ID: 926536905

Symbol: RECQ1_HUMAN

Name: DNA helicase, RecQ-like type 1

UniProtKB Accession Codes:

P46063 A8K6G2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CPTC 1 CTD 1 ChEBI 24 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 7 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 18 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 6 Rhea 4 SMART 2 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: 7961977

Title: Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ.

PubMed ID: 7961977

DOI: 10.1016/s0021-9258(18)43957-9

PubMed ID: 7527136

Title: Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12.

PubMed ID: 7527136

DOI: 10.1093/nar/22.22.4566

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

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: 8056767

Title: Purification of two DNA-dependent adenosinetriphosphatases having DNA helicase activity from HeLa cells and comparison of the properties of the two enzymes.

PubMed ID: 8056767

DOI: 10.1093/oxfordjournals.jbchem.a124369

PubMed ID: 15886194

Title: RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination.

PubMed ID: 15886194

DOI: 10.1074/jbc.m500265200

PubMed ID: 18426915

Title: FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stability.

PubMed ID: 18426915

DOI: 10.1128/mcb.02210-07

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

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: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 35025765

Title: RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.

PubMed ID: 35025765

DOI: 10.1172/jci147301

PubMed ID: 19151156

Title: Structure of the human RECQ1 helicase reveals a putative strand-separation pin.

PubMed ID: 19151156

DOI: 10.1073/pnas.0806908106

PubMed ID: 25831490

Title: Human RECQ1 helicase-driven DNA unwinding, annealing, and branch migration: insights from DNA complex structures.

PubMed ID: 25831490

DOI: 10.1073/pnas.1417594112

Sequence Information:

  • Length: 649
  • Mass: 73457
  • Checksum: F616DC3191F79391
  • Sequence:
    • MASVSALTEE LDSITSELHA VEIQIQELTE RQQELIQKKK VLTKKIKQCL EDSDAGASNE 
YDSSPAAWNK EDFPWSGKVK DILQNVFKLE KFRPLQLETI NVTMAGKEVF LVMPTGGGKS 
LCYQLPALCS DGFTLVICPL ISLMEDQLMV LKQLGISATM LNASSSKEHV KWVHAEMVNK 
NSELKLIYVT PEKIAKSKMF MSRLEKAYEA RRFTRIAVDE VHCCSQWGHD FRPDYKALGI 
LKRQFPNASL IGLTATATNH VLTDAQKILC IEKCFTFTAS FNRPNLYYEV RQKPSNTEDF 
IEDIVKLING RYKGQSGIIY CFSQKDSEQV TVSLQNLGIH AGAYHANLEP EDKTTVHRKW 
SANEIQVVVA TVAFGMGIDK PDVRFVIHHS MSKSMENYYQ ESGRAGRDDM KADCILYYGF 
GDIFRISSMV VMENVGQQKL YEMVSYCQNI SKCRRVLMAQ HFDEVWNSEA CNKMCDNCCK 
DSAFERKNIT EYCRDLIKIL KQAEELNEKL TPLKLIDSWM GKGAAKLRVA GVVAPTLPRE 
DLEKIIAHFL IQQYLKEDYS FTAYATISYL KIGPKANLLN NEAHAITMQV TKSTQNSFRA 
ESSQTCHSEQ GDKKMEEKNS GNFQKKAANM LQQSGSKNTG AKKRKIDDA

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.