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Aliases for RECQL4 Gene

Aliases for RECQL4 Gene

  • RecQ Protein-Like 4 2 3 4
  • RECQ4 3 4 6
  • DNA Helicase, RecQ-Like Type 4 3 4
  • RTS 4 6
  • DNA Helicase, RecQ-Like, Type 4 3
  • ATP-Dependent DNA Helicase Q4 3
  • EC 3.6.4.12 4

External Ids for RECQL4 Gene

Summaries for RECQL4 Gene

Entrez Gene Summary for RECQL4 Gene

  • The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]

GeneCards Summary for RECQL4 Gene

RECQL4 (RecQ Protein-Like 4) is a Protein Coding gene. Diseases associated with RECQL4 include rapadilino syndrome and baller-gerold syndrome. Among its related pathways are Cell Cycle / Checkpoint Control and Cell Cycle / Checkpoint Control. GO annotations related to this gene include bubble DNA binding and ATP-dependent 3-5 DNA helicase activity. An important paralog of this gene is BLM.

UniProtKB/Swiss-Prot for RECQL4 Gene

  • DNA-dependent ATPase. May modulate chromosome segregation.

Gene Wiki entry for RECQL4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RECQL4 Gene

Genomics for RECQL4 Gene

Genomic Location for RECQL4 Gene

Start:
144,511,284 bp from pter
End:
144,517,845 bp from pter
Size:
6,562 bases
Orientation:
Minus strand

Genomic View for RECQL4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RECQL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RECQL4 Gene

Regulatory Elements for RECQL4 Gene

Transcription factor binding sites by QIAGEN in the RECQL4 gene promoter:

Proteins for RECQL4 Gene

  • Protein details for RECQL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94761-RECQ4_HUMAN
    Recommended name:
    ATP-dependent DNA helicase Q4
    Protein Accession:
    O94761
    Secondary Accessions:
    • Q3Y424
    • Q96DW2
    • Q96F55

    Protein attributes for RECQL4 Gene

    Size:
    1208 amino acids
    Molecular mass:
    133077 Da
    Quaternary structure:
    • Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity.
    SequenceCaution:
    • Sequence=AAH13277.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RECQL4 Gene

neXtProt entry for RECQL4 Gene

Proteomics data for RECQL4 Gene at MOPED

Post-translational modifications for RECQL4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RECQL4 Gene

Domains for RECQL4 Gene

UniProtKB/Swiss-Prot:

RECQ4_HUMAN
Domain:
  • Contains 1 helicase ATP-binding domain.:
    • O94761
  • Contains 1 helicase C-terminal domain.:
    • O94761
Family:
  • Belongs to the helicase family. RecQ subfamily.:
    • O94761
genes like me logo Genes that share domains with RECQL4: view

No data available for Gene Families for RECQL4 Gene

Function for RECQL4 Gene

Molecular function for RECQL4 Gene

GENATLAS Biochemistry: DNA helicase ATP dependent,with E coli RecQ,expressed in thymus and testis as the BLM gene and up-regulated at the G1/S and G2/M stage of the cell cycle,involved in the maintenance of genomic integrity
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot Function: DNA-dependent ATPase. May modulate chromosome segregation.
UniProtKB/Swiss-Prot Induction: Up-regulated in actively dividing cells.

Enzyme Numbers (IUBMB) for RECQL4 Gene

Gene Ontology (GO) - Molecular Function for RECQL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000405 bubble DNA binding IDA 19177149
GO:0003676 nucleic acid binding --
GO:0005524 ATP binding IDA 19177149
GO:0008026 ATP-dependent helicase activity --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with RECQL4: view
genes like me logo Genes that share phenotypes with RECQL4: view

Animal Models for RECQL4 Gene

MGI Knock Outs for RECQL4:

miRNA for RECQL4 Gene

miRTarBase miRNAs that target RECQL4

No data available for Transcription Factor Targeting and HOMER Transcription for RECQL4 Gene

Localization for RECQL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RECQL4 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RECQL4 Gene COMPARTMENTS Subcellular localization image for RECQL4 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for RECQL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with RECQL4: view

Pathways for RECQL4 Gene

genes like me logo Genes that share pathways with RECQL4: view

Pathways by source for RECQL4 Gene

2 Cell Signaling Technology pathways for RECQL4 Gene

Interacting Proteins for RECQL4 Gene

Selected Interacting proteins: O94761-RECQ4_HUMAN for RECQL4 Gene via MINT I2D

Gene Ontology (GO) - Biological Process for RECQL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000733 DNA strand renaturation IDA 19177149
GO:0001501 skeletal system development --
GO:0006260 DNA replication IDA 19177149
GO:0006281 DNA repair TAS 9878247
GO:0006310 DNA recombination IEA --
genes like me logo Genes that share ontologies with RECQL4: view

Compounds for RECQL4 Gene

(2) Novoseek inferred chemical compound relationships for RECQL4 Gene

Compound -log(P) Hits PubMed IDs
hydroxyurea 45 3
h2o2 3.36 2
genes like me logo Genes that share compounds with RECQL4: view

Transcripts for RECQL4 Gene

Unigene Clusters for RECQL4 Gene

RecQ protein-like 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RECQL4 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a ·
SP1: - - -
SP2: -
SP3:
SP4: - - -
SP5: - -
SP6:
SP7:
SP8:

ExUns: 15b · 15c ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c
SP1: -
SP2:
SP3: - -
SP4:
SP5:
SP6: - -
SP7:
SP8:

Relevant External Links for RECQL4 Gene

GeneLoc Exon Structure for
RECQL4
ECgene alternative splicing isoforms for
RECQL4

Expression for RECQL4 Gene

mRNA expression in normal human tissues for RECQL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RECQL4 Gene

This gene is overexpressed in Testis (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for RECQL4 Gene

SOURCE GeneReport for Unigene cluster for RECQL4 Gene Hs.31442

mRNA Expression by UniProt/SwissProt for RECQL4 Gene

O94761-RECQ4_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in thymus and testis.
genes like me logo Genes that share expressions with RECQL4: view

Orthologs for RECQL4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RECQL4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RECQL4 36
  • 98.79 (n)
  • 98.26 (a)
cow
(Bos Taurus)
Mammalia RECQL4 36
  • 76.37 (n)
  • 69.7 (a)
RECQL4 37
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RECQL4 36
  • 74.32 (n)
  • 67.4 (a)
RECQL4 37
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Recql4 36
  • 73.3 (n)
  • 67.69 (a)
Recql4 16
Recql4 37
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RECQL4 37
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RECQL4 37
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Recql4 36
  • 74.59 (n)
  • 69.18 (a)
chicken
(Gallus gallus)
Aves RECQL4 37
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RECQL4 37
  • 46 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33379 36
tropical clawed frog
(Silurana tropicalis)
Amphibia recql4 36
  • 57.01 (n)
  • 53.87 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12516 36
zebrafish
(Danio rerio)
Actinopterygii LOC567383 36
  • 56.14 (n)
  • 50.69 (a)
RECQL4 37
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RecQ4 37
  • 27 (a)
OneToOne
RecQ4 38
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGS1 37
  • 13 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14107 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1405 37
  • 6 (a)
OneToOne
Species with no ortholog for RECQL4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RECQL4 Gene

ENSEMBL:
Gene Tree for RECQL4 (if available)
TreeFam:
Gene Tree for RECQL4 (if available)

Paralogs for RECQL4 Gene

Paralogs for RECQL4 Gene

genes like me logo Genes that share paralogs with RECQL4: view

Variants for RECQL4 Gene

Sequence variations from dbSNP and Humsavar for RECQL4 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs756627 Benign 144,511,903(-) GAGTG(C/T)AGTAA intron-variant
rs2620653 -- 144,513,830(-) TTCTC(A/T)CTCCC intron-variant
rs2721191 untested, - 144,514,295(-) CCTCC(C/T)TCCAG reference, missense
rs4244610 Benign 144,512,131(-) GGAGG(C/T)GGGCG intron-variant
rs4244611 Benign 144,514,540(-) TGTCG(C/T)TCCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RECQL4 Gene

Variant ID Type Subtype PubMed ID
nsv470249 CNV Loss 18288195
nsv515809 CNV Gain+Loss 19592680
nsv891807 CNV Loss 21882294
nsv428208 CNV Gain 18775914
nsv891817 CNV Loss 21882294
nsv891846 CNV Loss 21882294
nsv831489 CNV Loss 17160897
dgv7966n71 CNV Loss 21882294
dgv7968n71 CNV Loss 21882294
dgv7969n71 CNV Loss 21882294
dgv7972n71 CNV Loss 21882294
dgv907n27 CNV Loss 19166990
dgv7975n71 CNV Loss 21882294
dgv7976n71 CNV Loss 21882294
dgv7977n71 CNV Loss 21882294
dgv7978n71 CNV Loss 21882294
nsv891897 CNV Loss 21882294
esv29999 CNV Loss 17803354
nsv891911 CNV Loss 21882294
nsv891912 CNV Loss 21882294
dgv7981n71 CNV Loss 21882294
dgv7982n71 CNV Loss 21882294
dgv7983n71 CNV Loss 21882294
dgv1207n67 CNV Gain 20364138
dgv7984n71 CNV Loss 21882294
esv1092376 CNV Insertion 17803354
esv1544139 CNV Insertion 17803354

Relevant External Links for RECQL4 Gene

HapMap Linkage Disequilibrium report
RECQL4
Human Gene Mutation Database (HGMD)
RECQL4

Disorders for RECQL4 Gene

(3) OMIM Diseases for RECQL4 Gene (603780)

UniProtKB/Swiss-Prot

RECQ4_HUMAN
  • Rothmund-Thomson syndrome (RTS) [MIM:268400]: Characterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism. {ECO:0000269 PubMed:10552928}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • RAPADILINO syndrome (RAPADILINOS) [MIM:266280]: Disease characterized by radial and patellar aplasia or hypoplasia. {ECO:0000269 PubMed:12952869}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Baller-Gerold syndrome (BGS) [MIM:218600]: An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. {ECO:0000269 PubMed:15964893}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(17) Novoseek inferred disease relationships for RECQL4 Gene

Disease -log(P) Hits PubMed IDs
rothmund-thomson syndrome 98.7 39
rapadilino syndrome 97.7 6
baller-gerold syndrome 93.3 6
bloom syndrome 90.6 10
werner syndrome 89.8 11

Relevant External Links for RECQL4

GeneTests
RECQL4
GeneReviews
RECQL4
Genetic Association Database (GAD)
RECQL4
Human Genome Epidemiology (HuGE) Navigator
RECQL4
genes like me logo Genes that share disorders with RECQL4: view

Publications for RECQL4 Gene

  1. Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. (PMID: 9878247) Kitao S. … Shimamoto A. (Genomics 1998) 2 3 4 23
  2. Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite. (PMID: 12601557) Roversi G. … Larizza L. (J. Hum. Genet. 2003) 3 4 23
  3. Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. (PMID: 10552928) Kitao S. … Shimamoto A. (Genomics 1999) 3 4 23
  4. Differential regulation of human RecQ family helicases in cell transformation and cell cycle. (PMID: 11032027) Kawabe T. … Sugimoto M. (Oncogene 2000) 3 4 23
  5. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (PMID: 12952869) Siitonen H.A. … Kestilae M. (Hum. Mol. Genet. 2003) 3 4 23

Products for RECQL4 Gene

Sources for RECQL4 Gene

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