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HELB DNA helicase B [ Homo sapiens (human) ]

Gene ID: 92797, updated on 17-Sep-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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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. Genome Maintenance by DNA Helicase B. Hazeslip L, et al. Genes (Basel), 2020 May 21. PMID 32455610, 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 (28) 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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Gene LinkOut

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