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Recql Gene Detail
Summary
  • Symbol
    Recql
  • Name
    RecQ protein-like
  • Synonyms
    RecQ1
  • Feature Type
    protein coding gene
  • IDs
    MGI:103021
    NCBI Gene: 19691
  • Gene Overview
    MyGene.info: RECQL
Location & Maps
more
  • Sequence Map
    Chr6:142350342-142387087 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36746 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 73.91 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    RECQL, RecQ like helicase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    RECQL, RecQ like helicase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    RecQ1, RECQL1
  • Links
    NCBI Gene ID: 5965
    neXtProt AC: NX_P46063

  • Chr Location
    12p12; chr12:21468910-21501669 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in chromosomal instability, with embryonic fibroblasts exhibiting aneuploidy, spontaneous chromosomal breakage, frequent translocation events, increased sensitivity to ionizing radiation, and increased frequency of sister chromatid exchange.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022473 VEGA Gene Model | MGI Sequence Detail 36746 C57BL/6J ±  kb
transcript OTTMUST00000053764 VEGA | MGI Sequence Detail 3389 Not Applicable  
polypeptide OTTMUSP00000025579 VEGA | MGI Sequence Detail 648 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    424 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    10 Sequences
  • Protein Ontology
    PR:000013860 ATP-dependent DNA helicase Q1
  • EC
  • InterPro Domains
    IPR032284 ATP-dependent DNA helicase RecQ, zinc-binding domain
    IPR011545 DEAD/DEAH box helicase domain
    IPR004589 DNA helicase, ATP-dependent, RecQ type
    IPR001650 Helicase, C-terminal
    IPR014001 Helicase superfamily 1/2, ATP-binding domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR018982 RQC domain
    IPR011991 Winged helix-turn-helix DNA-binding domain
Molecular
Reagents
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  • All nucleic 9
    Genomic 1
    cDNA 8

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-23858, MGI:2141519
References
more
  • Summaries
    All 34
    Developmental Gene Expression 1
    Gene Ontology 4
    Phenotypes 8
  • Earliest
    J:24315 Puranam KL, et al., Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue. Genomics. 1995 Apr 10;26(3):595-8
  • Latest
    J:149737 Sansom SN, et al., The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis. PLoS Genet. 2009 Jun;5(6):e1000511

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory