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Recql4
Gene Detail
Symbol

Name
ID
Recql4
RecQ protein-like 4
MGI:1931028
Feature Type
protein coding gene
Genetic Map
Chromosome 15
36.28 cM, cytoband D3
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr15:76703553-76710559 bp, - strand
From NCBI annotation of GRCm38

  7007 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3144  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Gene Tree: Recql4

Human
homologs
Human Homolog RECQL4, RecQ protein-like 4
NCBI Gene ID 9401
neXtProt AC  NX_O94761
Human Synonyms  RECQ4
Human Chr (Location)  8q24.3; chr8:144511284-144517826 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human RECQL4
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(2) Radiation induced(1) Targeted(7)
Genomic Mutations involving Recql4 (1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous loss of exons 5-8 causes embryonic death. Deletion of exon 13 causes neo- and postnatal lethality, stunted growth, skin, hair and bone defects, tissue hypoplasia and tooth dysgenesis. Mice lacking exons 9-13 show palate and limb defects, aneuploidy, poikiloderma and cancer predisposition.
 
Human Diseases Modeled Using Mouse Recql4 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Recql4 interacts with 39 markers (Mir17, Mir19b-1, Mir19b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process ATP catabolic process, DNA duplex unwinding, ...
Component cytoplasm, membrane, ...
Function annealing helicase activity, ATP binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (137)    Tissues (107)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 129
Northern blot 8
cDNA source data(25)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(27) cDNA(26) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000033762 (Evidence)
Entrez Gene79456 (Evidence)
UniGene18373
DFCITC1597177, TC1607787, TC1734700
DoTSDT.101253624, DT.102532429, DT.40184915
NIA Mouse Gene IndexU036357
EC3.6.4.12
Consensus CDS ProjectCCDS27588.1
International Mouse Knockout Project StatusRecql4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 79456 NCBI Gene Model | MGI Sequence Detail 7007 C57BL/6J ±  kb
transcript NM_058214 RefSeq | MGI Sequence Detail 3922 C57BL/6 
polypeptide Q75NR7 UniProt | EBI | MGI Sequence Detail 1216 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(11) UniProt(2)
Polymorphisms
SNPs within 2kb(34 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004589 DNA helicase, ATP-dependent, RecQ type
InterPro IPR021110 DNA replication/checkpoint protein
InterPro IPR011545 DNA/RNA helicase, DEAD/DEAH box type, N-terminal
InterPro IPR001650 Helicase, C-terminal
InterPro IPR014001 Helicase, superfamily 1/2, ATP-binding domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR001878 Zinc finger, CCHC-type
Protein Ontology PR:000013861 ATP-dependent DNA helicase Q4
Graphical View of Protein Domain Structure
References
(Earliest) J:67348 Ohhata T, et al., Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4. Gene. 2000 Dec 31;261(2):251-8
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(40)
Disease annotation references (2)

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
10/08/2014
MGI 5.20
The Jackson Laboratory