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 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; chr8:145736667-145743210 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human RECQL4

Alleles and phenotypes

All alleles(6) : Targeted(5) Gene trapped(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (22 annotations)

Process	DNA duplex unwinding, DNA recombination, ...
Component	cytoplasm, nucleus
Function	ATP binding, ATP-dependent 3'-5' DNA helicase activity, ...

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)
Theiler Stages: 22, 23, 28

Assay Type	Results
RNA in situ	129
Northern blot	8

cDNA source data(25)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(27) cDNA(26) Other(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000033762 (Evidence)
Entrez Gene	79456 (Evidence)
UniGene	18373
DFCI	TC1597177, TC1607787, TC1734700
DoTS	DT.101253624, DT.102532429, DT.40184915
NIA Mouse Gene Index	U036357
EC	3.6.4.12
Consensus CDS Project	CCDS27588.1
International Mouse Knockout Project Status	Recql4

Sequences

Length	Strain/Species
genomic	79456	NCBI Gene Model | MGI Sequence Detail	7007	C57BL/6J
transcript	NM_058214	RefSeq | MGI Sequence Detail	3922	C57BL/6
polypeptide	Q75NR7	UniProt | EBI | MGI Sequence Detail	1216	Not Applicable

All sequences(24) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(23 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(37)