• Gene id: 92797

Gene Summary

• Gene Symbol: HELB   Gene   UCSC   Ensembl
• Aliases: DHB, hDHB
• Gene name: DNA helicase B
• Alternate names: DNA helicase B, helicase (DNA) B,
• Gene location: 12q (66302492: 66343642)     Exons: 14     NC_000012.12
• Gene summary(Entrez): 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 sp
• OMIM: 601142

Protein Summary

• Protein general information: Q8NG08  
  • Name: DNA helicase B (hDHB) (EC 3.6.4.12)
  • Length: 1087  
  • Mass: 123252
  • Tissue specificity: Highly expressed in testis and thymus and weakly in liver, spleen, kidney and brain. {ECO
• Sequence:

  MARSSPYLRQLQGPLLPPRDLVEEDDDYLNDDVEEDEESVFIDAEELCSGGVKAGSLPGCLRVSICDENTQETCK
  VFGRFPITGAWWRVKVQVKPVVGSRSYQYQVQGFPSYFLQSDMSPPNQKHICALFLKECEVSSDDVNKFLTWVKE
  VSNYKNLNFENLRETLRTFHKETGRKDQKQPTQNGQEELFLDNEMSLPLENTIPFRNVMTALQFPKIMEFLPVLL
  PRHFKWIIGSGSKEMLKEIEEILGTHPWKLGFSKITYREWKLLRCEASWIAFCQCESLLQLMTDLEKNALIMYSR
  LKQICREDGHTYVEVNDLTLTLSNHMSFHAASESLKFLKDIGVVTYEKSCVFPYDLYHAERAIAFSICDLMKKPP
  WHLCVDVEKVLASIHTTKPENSSDDALNESKPDEVRLENPVDVVDTQDNGDHIWTNGENEINAEISEVQLDQDQV
  EVPLDRDQVAALEMICSNPVTVISGKGGCGKTTIVSRLFKHIEQLEEREVKKACEDFEQDQNASEEWITFTEQSQ
  LEADKAIEVLLTAPTGKAAGLLRQKTGLHAYTLCQVNYSFYSWTQTMMTTNKPWKFSSVRVLVVDEGSLVSVGIF
  KSVLNLLCEHSKLSKLIILGDIRQLPSIEPGNLLKDLFETLKSRNCAIELKTNHRAESQLIVDNATRISRRQFPK
  FDAELNISDNPTLPISIQDKTFIFVRLPEEDASSQSSKTNHHSCLYSAVKTLLQENNLQNAKTSQFIAFRRQDCD
  LINDCCCKHYTGHLTKDHQSRLVFGIGDKICCTRNAYLSDLLPENISGSQQNNDLDASSEDFSGTLPDFAKNKRD
  FESNVRLCNGEIFFITNDVTDVTFGKRRSLTINNMAGLEVTVDFKKLMKYCRIKHAWARTIHTFQGSEEQTVVYV
  VGKAGRQHWQHVYTAVTRGRCRVYVIAEESQLRNAIMKNSFPRKTRLKHFLQSKLSSSGAPPADFPSPRKSSGDS
  GGPSTPSASPLPVVTDHAMTNDVTWSEASSPDERTLTFAERWQLSSPDGVDTDDDLPKSRASKRTCGVNDDESPS
  KIFMVGESPQVSSRLQNLRLNNLIPRQLFKPTDNQET

• Structural information:
  • Interpro: IPR027044  IPR027417  IPR027785  
  • STRING: ENSP00000247815
• Other Databases: GeneCards:  HELB  Malacards:  HELB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017116	single-stranded DNA helicase activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IBA	biological process
GO:0005662	DNA replication factor A complex	IDA	colocalizes with
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IMP	biological process
GO:1903775	regulation of DNA double-strand break processing	IMP	biological process
GO:0035861	site of double-strand break	IMP	cellular component
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0006269	DNA replication, synthesis of RNA primer	IEA	biological process
GO:0006261	DNA-dependent DNA replication	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IEA	biological process
GO:1903775	regulation of DNA double-strand break processing	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006261	DNA-dependent DNA replication	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0043139	5'-3' DNA helicase activity	IDA	molecular function
GO:0017116	single-stranded DNA helicase activity	IDA	molecular function
GO:0006269	DNA replication, synthesis of RNA primer	IDA	biological process
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0006260	DNA replication	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray