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    HELB DNA helicase B [ Homo sapiens (human) ]

    Gene ID: 92797, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HELBprovided by HGNC
    Official Full Name
    DNA helicase Bprovided by HGNC
    Primary source
    HGNC:HGNC:17196
    See related
    Ensembl:ENSG00000127311 MIM:614539; AllianceGenome:HGNC:17196
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DHB; hDHB
    Summary
    This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in bone marrow (RPKM 1.7), appendix (RPKM 1.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HELB in Genome Data Viewer
    Location:
    12q14.3; 12q
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (66302493..66343643)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (66281949..66323096)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (66696273..66737423)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6619 Neighboring gene RN7SK pseudogene 166 Neighboring gene PDCL3 pseudogene 7 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC105369811 Neighboring gene glutamate receptor interacting protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human HELB is a processive motor protein that catalyzes RPA clearance from single-stranded DNA. Hormeno S, et al. Proc Natl Acad Sci U S A, 2022 Apr 12. PMID 35385349, Free PMC Article
    2. The Expression of Human DNA Helicase B Is Affected by G-Quadruplexes in the Promoter. Zafar MK, et al. Biochemistry, 2020 Jul 7. PMID 32478505, Free PMC Article
    3. Cell cycle-dependent regulation of a human DNA helicase that localizes in DNA damage foci. Gu J, et al. Mol Biol Cell, 2004 Jul. PMID 15146062, Free PMC Article
    4. Human DNA helicase B interacts with the replication initiation protein Cdc45 and facilitates Cdc45 binding onto chromatin. Gerhardt J, et al. Exp Cell Res, 2015 Jun 10. PMID 25933514, Free PMC Article
    5. Human DNA helicase B functions in cellular homologous recombination and stimulates Rad51-mediated 5'-3' heteroduplex extension in vitro. Liu H, et al. PLoS One, 2015. PMID 25617833, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human HELB is a processive motor protein that catalyzes RPA clearance from single-stranded DNA.
      Title: Human HELB is a processive motor protein that catalyzes RPA clearance from single-stranded DNA.
    2. Genome Maintenance by DNA Helicase B.
      Title: Genome Maintenance by DNA Helicase B.
    3. The Expression of Human DNA Helicase B Is Affected by G-Quadruplexes in the Promoter.
      Title: The Expression of Human DNA Helicase B Is Affected by G-Quadruplexes in the Promoter.
    4. Conclude that mammalian DNA end resection triggers its own inhibition via the recruitment of HELB.
      Title: HELB Is a Feedback Inhibitor of DNA End Resection.
    5. HDHB promotes homologous recombination in vivo and stimulates 5'-3' heteroduplex extension during Rad51-mediated strand exchange in vitro
      Title: Human DNA helicase B functions in cellular homologous recombination and stimulates Rad51-mediated 5'-3' heteroduplex extension in vitro.
    6. The depletion of HDHB from human cells diminishes Cdc45 association with chromatin, suggesting that HDHB may facilitate Cdc45 recruitment at G1/S in human cells.
      Title: Human DNA helicase B interacts with the replication initiation protein Cdc45 and facilitates Cdc45 binding onto chromatin.
    7. Replication stress-induced recruitment of HDHB to chromatin is independent of checkpoint signaling but correlates with the level of replication protein A (RPA) recruited to chromatin.
      Title: Human DNA helicase B (HDHB) binds to replication protein A and facilitates cellular recovery from replication stress.
    8. role of dominant-negative mutant in blocking onset of chromosomal DNA replication
      Title: A dominant-negative mutant of human DNA helicase B blocks the onset of chromosomal DNA replication.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5'-3' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-stranded DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in DNA replication, synthesis of primer IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA double-strand break processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of DNA replication factor A complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in site of double-strand break IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA helicase B
    Names
    helicase (DNA) B
    NP_001357214.1
    NP_387467.2
    XP_047285849.1

    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_001370285.1 → NP_001357214.1  DNA helicase B

      Status: REVIEWED

      Source sequence(s)
      AC078889
      Consensus CDS
      CCDS8976.1
      UniProtKB/Swiss-Prot
      A8K4C9, Q4G0T2, Q8NG08, Q9H7L5
      Related
      ENSP00000247815.5, ENST00000247815.9
      Conserved Domains (2) summary
      TIGR01448
      Location:294 → 947
      recD_rel; helicase, putative, RecD/TraA family
      cd17933
      Location:457 → 654
      DEXSc_RecD-like; DEXS-box helicase domain of RecD and similar proteins

    2. NM_033647.5 → NP_387467.2  DNA helicase B

      See identical proteins and their annotated locations for NP_387467.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the protein.
      Source sequence(s)
      AC078889, AF319995, AK290894, BC143411
      Consensus CDS
      CCDS8976.1
      UniProtKB/Swiss-Prot
      A8K4C9, Q4G0T2, Q8NG08, Q9H7L5
      Related
      ENSP00000443287.1, ENST00000545134.1
      Conserved Domains (2) summary
      TIGR01448
      Location:294 → 947
      recD_rel; helicase, putative, RecD/TraA family
      cd17933
      Location:457 → 654
      DEXSc_RecD-like; DEXS-box helicase domain of RecD and similar proteins

    RNA

    1. NR_135080.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site at an internal exon and lacks an exon at the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC078889, AK290894, BC143409, BC143411

    2. NR_135081.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC078889, AF319995, AK290894, BC143411
      Related
      ENST00000440906.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      66302493..66343643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429893.1 → XP_047285849.1  DNA helicase B isoform X1

      UniProtKB/TrEMBL
      F5H1I4
      Related
      ENSP00000439617.1, ENST00000542394.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      66281949..66323096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NG08.2 GenPept UniProtKB/Swiss-Prot:Q8NG08

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