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Helq helicase, POLQ-like [ Mus musculus (house mouse) ]

Gene ID: 191578, updated on 2-Nov-2024

Summary

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Official Symbol
Helqprovided by MGI
Official Full Name
helicase, POLQ-likeprovided by MGI
Primary source
MGI:MGI:2176740
See related
Ensembl:ENSMUSG00000035266 AllianceGenome:MGI:2176740
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
Hel308; D430018E21Rik
Summary
Predicted to enable single-stranded 3'-5' DNA helicase activity. Involved in positive regulation of double-strand break repair via homologous recombination. Predicted to be part of single-stranded DNA-dependent ATP-dependent DNA helicase complex. Predicted to be active in nucleus and site of DNA damage. Orthologous to human HELQ (helicase, POLQ like). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 4.7), CNS E14 (RPKM 3.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Helq in Genome Data Viewer
Location:
5 E4; 5 48.52 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (100910010..100946529, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (100762144..100798661, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_13729 Neighboring gene heparanase Neighboring gene predicted gene, 36619 Neighboring gene STARR-positive B cell enhancer ABC_E6351 Neighboring gene mitochondrial ribosomal protein S18C Neighboring gene BRCA1 A complex subunit

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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

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Related articles in PubMed

  1. Helq acts in parallel to Fancc to suppress replication-associated genome instability. Luebben SW, et al. Nucleic Acids Res, 2013 Dec. PMID 24005041, Free PMC Article
  2. A human DNA helicase homologous to the DNA cross-link sensitivity protein Mus308. Marini F, et al. J Biol Chem, 2002 Mar 8. PMID 11751861
  3. HELQ deficiency impairs the induction of primordial germ cell-like cells. Wan C, et al. FEBS Open Bio, 2024 Jul. PMID 38720471, Free PMC Article
  4. Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome. Murtaza G, et al. Genet Test Mol Biomarkers, 2021 Oct. PMID 34672775
  5. A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model. Bakhshalizadeh S, et al. Genes (Basel), 2024 Mar 4. PMID 38540391, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HELQ deficiency impairs the induction of primordial germ cell-like cells.
    Title: HELQ deficiency impairs the induction of primordial germ cell-like cells.
  2. A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
    Title: A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
  3. Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome.
    Title: Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome.
  4. The findings suggest that HELQ contributes to genome stability in unchallenged conditions through a mechanism distinct from the function of FANCC.
    Title: Helq acts in parallel to Fancc to suppress replication-associated genome instability.
  5. results reveal a critical role for HELQ in replication-coupled DNA repair, germ cell maintenance and tumour suppression in mammals
    Title: HELQ promotes RAD51 paralogue-dependent repair to avert germ cell loss and tumorigenesis.
  6. identification of homolog to POLN
    Title: POLN, a nuclear PolA family DNA polymerase homologous to the DNA cross-link sensitivity protein Mus308.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4)  1 citation
  • Gene trapped (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC105224

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables single-stranded 3'-5' DNA helicase activity ISO
Inferred from Sequence Orthology
more info
  
enables single-stranded 3'-5' DNA helicase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables single-stranded DNA helicase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA double-strand break processing involved in repair via single-strand annealing ISO
Inferred from Sequence Orthology
more info
  
involved_in DNA double-strand break processing involved in repair via single-strand annealing ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within DNA metabolic process ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in double-strand break repair via alternative nonhomologous end joining ISO
Inferred from Sequence Orthology
more info
  
involved_in double-strand break repair via alternative nonhomologous end joining ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in double-strand break repair via homologous recombination ISO
Inferred from Sequence Orthology
more info
  
involved_in double-strand break repair via synthesis-dependent strand annealing ISO
Inferred from Sequence Orthology
more info
  
involved_in double-strand break repair via synthesis-dependent strand annealing ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in nucleus ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of single-stranded DNA-dependent ATP-dependent DNA helicase complex ISO
Inferred from Sequence Orthology
more info
 PubMed 
is_active_in site of DNA damage ISO
Inferred from Sequence Orthology
more info
  
is_active_in site of DNA damage ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
helicase POLQ-like
Names
DNA helicase Hel308
POLQ-like helicase
helicase, mus308-like
mus308-like helicase
NP_001074576.1
NP_001404915.1
NP_001404916.1
NP_001404917.1
NP_001404919.1
NP_001404920.1
NP_001404921.1
XP_006534885.1
XP_006534886.1
XP_006534889.1
XP_006534890.1
XP_006534892.1
XP_017176216.1
XP_017176217.1
XP_030110068.1
XP_036020800.1
XP_036020801.1

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_001081107.1 → NP_001074576.1  helicase POLQ-like isoform 1

    See identical proteins and their annotated locations for NP_001074576.1

    Status: VALIDATED

    Source sequence(s)
    AC161510
    Consensus CDS
    CCDS39184.1
    UniProtKB/Swiss-Prot
    Q2VPA6, Q2VPA7, Q640L4, Q8BWI5, Q8R4K9
    UniProtKB/TrEMBL
    F7DCU7
    Related
    ENSMUSP00000041599.8, ENSMUST00000044684.14
    Conserved Domains (4) summary
    smart00490
    Location:597 → 671
    HELICc; helicase superfamily c-terminal domain
    PRK02362
    Location:277 → 1024
    PRK02362; ski2-like helicase; Provisional
    pfam00270
    Location:304 → 465
    DEAD; DEAD/DEAH box helicase
    pfam14520
    Location:971 → 1024
    HHH_5; Helix-hairpin-helix domain

  2. NM_001417986.1 → NP_001404915.1  helicase POLQ-like isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC161510

  3. NM_001417987.1 → NP_001404916.1  helicase POLQ-like isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC161510

  4. NM_001417988.1 → NP_001404917.1  helicase POLQ-like isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC161510

  5. NM_001417990.1 → NP_001404919.1  helicase POLQ-like isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC161510
    Related
    ENSMUSP00000116470.2, ENSMUST00000133845.8

  6. NM_001417991.1 → NP_001404920.1  helicase POLQ-like isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC161510

  7. NM_001417992.1 → NP_001404921.1  helicase POLQ-like isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC161510

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_000071.7 Reference GRCm39 C57BL/6J

    Range
    100910010..100946529 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006534829.3 → XP_006534892.1  helicase POLQ-like isoform X9

    Conserved Domains (1) summary
    PRK02362
    Location:20 → 521
    PRK02362; ATP-dependent DNA helicase

  2. XM_036164908.1 → XP_036020801.1  helicase POLQ-like isoform X10

    Conserved Domains (1) summary
    PRK02362
    Location:3 → 504
    PRK02362; ATP-dependent DNA helicase

  3. XM_006534823.4 → XP_006534886.1  helicase POLQ-like isoform X2

    Conserved Domains (3) summary
    PHA03307
    Location:35 → 327
    PHA03307; transcriptional regulator ICP4; Provisional
    PRK02362
    Location:349 → 1063
    PRK02362; ATP-dependent DNA helicase
    cd18026
    Location:350 → 552
    DEXHc_POLQ-like; DEXH-box helicase domain of DNA polymerase theta

  4. XM_017320728.2 → XP_017176217.1  helicase POLQ-like isoform X4

    UniProtKB/TrEMBL
    F7DCU7
    Conserved Domains (3) summary
    PHA03307
    Location:35 → 327
    PHA03307; transcriptional regulator ICP4; Provisional
    PRK02362
    Location:349 → 1005
    PRK02362; ATP-dependent DNA helicase
    cd18026
    Location:350 → 552
    DEXHc_POLQ-like; DEXH-box helicase domain of DNA polymerase theta

  5. XM_017320727.2 → XP_017176216.1  helicase POLQ-like isoform X3

    UniProtKB/TrEMBL
    F7DCU7
    Conserved Domains (3) summary
    PHA03307
    Location:35 → 327
    PHA03307; transcriptional regulator ICP4; Provisional
    PRK02362
    Location:349 → 847
    PRK02362; ATP-dependent DNA helicase
    cd18026
    Location:350 → 552
    DEXHc_POLQ-like; DEXH-box helicase domain of DNA polymerase theta

  6. XM_006534822.4 → XP_006534885.1  helicase POLQ-like isoform X1

    UniProtKB/TrEMBL
    F7DCU7
    Conserved Domains (3) summary
    PHA03307
    Location:35 → 327
    PHA03307; transcriptional regulator ICP4; Provisional
    PRK02362
    Location:349 → 1096
    PRK02362; ATP-dependent DNA helicase
    cd18026
    Location:350 → 552
    DEXHc_POLQ-like; DEXH-box helicase domain of DNA polymerase theta

  7. XM_030254208.1 → XP_030110068.1  helicase POLQ-like isoform X7

    Conserved Domains (1) summary
    PRK02362
    Location:39 → 669
    PRK02362; ATP-dependent DNA helicase

  8. XM_036164907.1 → XP_036020800.1  helicase POLQ-like isoform X8

    Conserved Domains (1) summary
    PRK02362
    Location:1 → 599
    PRK02362; ATP-dependent DNA helicase

  9. XM_006534827.5 → XP_006534890.1  helicase POLQ-like isoform X6

    Conserved Domains (1) summary
    PRK02362
    Location:13 → 693
    PRK02362; ATP-dependent DNA helicase

  10. XM_006534826.4 → XP_006534889.1  helicase POLQ-like isoform X5

    Conserved Domains (3) summary
    PHA03307
    Location:35 → 327
    PHA03307; transcriptional regulator ICP4; Provisional
    COG1204
    Location:340 → 804
    BRR2; Replicative superfamily II helicase [Replication, recombination and repair]
    cd18026
    Location:350 → 552
    DEXHc_POLQ-like; DEXH-box helicase domain of DNA polymerase theta

RNA

  1. XR_004942457.1 RNA Sequence

  2. XR_001784644.3 RNA Sequence

  3. XR_004942458.1 RNA Sequence

  4. XR_004942459.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_180984.2: Suppressed sequence

    Description
    NM_180984.2: This RefSeq was removed because currently there is insufficient support for the transcript.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2VPA6.2 GenPept UniProtKB/Swiss-Prot:Q2VPA6

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