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

    Gene ID: 191578, updated on 21-Apr-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. Predicted to be involved in double-strand break repair via homologous recombination and rRNA processing. Predicted to act upstream of or within DNA metabolic process. Predicted to be part of single-stranded DNA-dependent ATP-dependent DNA helicase complex. Predicted to be active in nucleus. Orthologous to human HELQ (helicase, POLQ like). [provided by Alliance of Genome Resources, Apr 2022]
    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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    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
    • 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. 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
    2. 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
    3. 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
    4. POLN, a nuclear PolA family DNA polymerase homologous to the DNA cross-link sensitivity protein Mus308. Marini F, et al. J Biol Chem, 2003 Aug 22. PMID 12794064
    5. Cell-fate transition and determination analysis of mouse male germ cells throughout development. Zhao J, et al. Nat Commun, 2021 Nov 25. PMID 34824237, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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)
    • Gene trapped (1) 
    • Endonuclease-mediated (3)  1 citation

    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 DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity 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 single-stranded 3'-5' DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-stranded DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA double-strand break processing involved in repair via single-strand annealing ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within DNA metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 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 positive regulation of double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus ISO
    Inferred from Sequence Orthology
    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
    		  

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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