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HELB DNA helicase B [ Homo sapiens (human) ]

Gene ID: 92797, updated on 4-Jun-2020

Summary

Official Symbol
HELBprovided by HGNC
Official Full Name
DNA helicase Bprovided by HGNC
Primary source
HGNC:HGNC:17196
See related
Ensembl:ENSG00000127311 MIM:614539
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

Genomic context

See HELB in Genome Data Viewer
Location:
12q14.3; 12q
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (66302493..66343643)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (66696335..66737423)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 166 Neighboring gene PDCL3 pseudogene 7 Neighboring gene uncharacterized LOC105369811 Neighboring gene glutamate receptor interacting protein 1 Neighboring gene oxysterol binding protein like 9 pseudogene 4 Neighboring gene oxysterol binding protein like 9 pseudogene 5

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-3' DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA-dependent ATP-dependent DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
single-stranded DNA-dependent ATP-dependent DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with DNA replication factor A complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
site of double-strand break IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
DNA helicase B
Names
helicase (DNA) B
NP_001357214.1
NP_387467.2
XP_016875719.1

NCBI Reference Sequences (RefSeq)

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_001370285.1NP_001357214.1  DNA helicase B

    Status: REVIEWED

    Source sequence(s)
    AC078889
    Related
    ENSP00000247815.4, ENST00000247815.8
    Conserved Domains (2) summary
    TIGR01448
    Location:294947
    recD_rel; helicase, putative, RecD/TraA family
    cd17933
    Location:457654
    DEXSc_RecD-like; DEXS-box helicase domain of RecD and similar proteins
  2. NM_033647.4NP_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
    Q8NG08
    Related
    ENSP00000443287.1, ENST00000545134.1
    Conserved Domains (2) summary
    TIGR01448
    Location:294947
    recD_rel; helicase, putative, RecD/TraA family
    cd17933
    Location:457654
    DEXSc_RecD-like; DEXS-box helicase domain of RecD and similar proteins

RNA

  1. NR_135080.1 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
    Related
    ENST00000542394.5
  2. NR_135081.1 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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017020230.1XP_016875719.1  DNA helicase B isoform X2

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