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Recql4 RecQ protein-like 4 [ Mus musculus (house mouse) ]

Gene ID: 79456, updated on 8-Feb-2024

Summary

Official Symbol
Recql4provided by MGI
Official Full Name
RecQ protein-like 4provided by MGI
Primary source
MGI:MGI:1931028
See related
Ensembl:ENSMUSG00000033762 AllianceGenome:MGI:1931028
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
RecQ4
Summary
Predicted to enable DNA binding activity and DNA helicase activity. Acts upstream of or within several processes, including negative regulation of sister chromatid cohesion; positive regulation of cell population proliferation; and skeletal system morphogenesis. Predicted to be located in chromosome, telomeric region. Predicted to be active in chromosome; cytoplasm; and nucleus. Is expressed in several structures, including Harderian gland; alimentary system; immune system; male reproductive gland or organ; and nervous system. Used to study Rothmund-Thomson syndrome. Human ortholog(s) of this gene implicated in Baller-Gerold syndrome; Rothmund-Thomson syndrome; and rapadilino syndrome. Orthologous to human RECQL4 (RecQ like helicase 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver E14.5 (RPKM 9.5), liver E14 (RPKM 8.4) and 28 other tissues See more
Orthologs
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Genomic context

See Recql4 in Genome Data Viewer
Location:
15 36.28 cM; 15 D3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (76587753..76594820, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (76703553..76710616, complement)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E5491 Neighboring gene STARR-seq mESC enhancer starr_39060 Neighboring gene protein phosphatase 1, regulatory subunit 16A Neighboring gene STARR-positive B cell enhancer ABC_E7385 Neighboring gene glutamic pyruvic transaminase, soluble Neighboring gene major facilitator superfamily domain containing 3 Neighboring gene RIKEN cDNA C030006K11 gene Neighboring gene leucine rich repeat containing 14 Neighboring gene leucine rich repeat containing 24 Neighboring gene Rho GTPase activating protein 39 Neighboring gene STARR-positive B cell enhancer mm9_chr15:76600695-76600996 Neighboring gene predicted gene, 17271

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 3'-5' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA/DNA annealing activity ISO
Inferred from Sequence Orthology
more info
 
enables bubble DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables four-way junction helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables helicase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables oxidized purine DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables telomeric D-loop binding ISO
Inferred from Sequence Orthology
more info
 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in chromosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ATP-dependent DNA helicase Q4
Names
DNA helicase, RecQ-like type 4
RecQ helicase protein-like 4
NP_001398903.1
NP_478121.2
XP_006521609.1
XP_006521610.1
XP_017172293.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001411974.1NP_001398903.1  ATP-dependent DNA helicase Q4 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC156550
    UniProtKB/TrEMBL
    A3KMF3
  2. NM_058214.4NP_478121.2  ATP-dependent DNA helicase Q4 isoform 1

    See identical proteins and their annotated locations for NP_478121.2

    Status: VALIDATED

    Source sequence(s)
    AC156550
    Consensus CDS
    CCDS27588.1
    UniProtKB/TrEMBL
    A0A0R4J0J3, A3KMF3
    Related
    ENSMUSP00000044363.8, ENSMUST00000036852.9
    Conserved Domains (4) summary
    smart00343
    Location:394408
    ZnF_C2HC; zinc finger
    smart00487
    Location:490678
    DEXDc; DEAD-like helicases superfamily
    cd00079
    Location:707839
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:499672
    DEAD; DEAD/DEAH box helicase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    76587753..76594820 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006521546.5XP_006521609.1  ATP-dependent DNA helicase Q4 isoform X1

    UniProtKB/TrEMBL
    A3KMF3
    Conserved Domains (3) summary
    smart00343
    Location:394408
    ZnF_C2HC; zinc finger
    COG0514
    Location:483844
    RecQ; Superfamily II DNA helicase RecQ [Replication, recombination and repair]
    pfam11719
    Location:449
    Drc1-Sld2; DNA replication and checkpoint protein
  2. XM_006521547.5XP_006521610.1  ATP-dependent DNA helicase Q4 isoform X2

    UniProtKB/TrEMBL
    A3KMF3
    Conserved Domains (3) summary
    smart00343
    Location:394408
    ZnF_C2HC; zinc finger
    COG0514
    Location:482843
    RecQ; Superfamily II DNA helicase RecQ [Replication, recombination and repair]
    pfam11719
    Location:449
    Drc1-Sld2; DNA replication and checkpoint protein
  3. XM_017316804.3XP_017172293.1  ATP-dependent DNA helicase Q4 isoform X4

    UniProtKB/TrEMBL
    A0A2R8W710
    Related
    ENSMUSP00000155694.2, ENSMUST00000230544.2
    Conserved Domains (2) summary
    smart00343
    Location:301315
    ZnF_C2HC; zinc finger
    COG0514
    Location:390751
    RecQ; Superfamily II DNA helicase RecQ [Replication, recombination and repair]

RNA

  1. XR_001781580.3 RNA Sequence

    Related
    ENSMUST00000230724.2
  2. XR_384056.5 RNA Sequence

  3. XR_004938880.1 RNA Sequence

  4. XR_004938881.1 RNA Sequence

  5. XR_004938882.1 RNA Sequence