HELB (DNA helicase B)

Gene

• Entrez ID: 92797
• Gene name: DNA helicase B
• Gene symbol: HELB
• Synonyms (NCBI Gene): DHB, hDHB
• Chromosome: 12
• Chromosome location: 12q14.3|12q
• 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 sp

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003678	Function	DNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	15146062
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005662	Component	DNA replication factor A complex	IDA	26774285
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	15146062
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006260	Process	DNA replication	IMP	12181327
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006269	Process	DNA replication, synthesis of primer	IDA	12181327
GO:0006269	Process	DNA replication, synthesis of primer	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IDA	26774285
GO:0006974	Process	DNA damage response	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017116	Function	Single-stranded DNA helicase activity	IBA
GO:0017116	Function	Single-stranded DNA helicase activity	IDA	12181327
GO:0035861	Component	Site of double-strand break	IMP	26774285
GO:0043139	Function	5'-3' DNA helicase activity	IDA	12181327
GO:0044877	Function	Protein-containing complex binding	IPI	12181327
GO:1903775	Process	Regulation of DNA double-strand break processing	IEA
GO:1903775	Process	Regulation of DNA double-strand break processing	IMP	26774285
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IBA
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IEA
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IMP	26774285

Other IDs

• MIM: 614539
• HGNC: 17196
• e!Ensembl: ENSG00000127311

Protein

• UniProt ID: Q8NG08
• Protein name: DNA helicase B (hDHB) (EC 3.6.4.12)
• Protein function: 5'-3' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection (PubMed:25617833, PubMed:26774285). Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resec
• PDB: 7XV1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13604	AAA_30	453 → 683		Domain
  PF13538	UvrD_C_2	880 → 926	UvrD-like helicase C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis and thymus and weakly in liver, spleen, kidney and brain. {ECO:0000269|PubMed:12181327}.
• Sequence:

  MARSSPYLRQLQGPLLPPRDLVEEDDDYLNDDVEEDEESVFIDAEELCSGGVKAGSLPGC
  LRVSICDENTQETCKVFGRFPITGAWWRVKVQVKPVVGSRSYQYQVQGFPSYFLQSDMSP
  PNQKHICALFLKECEVSSDDVNKFLTWVKEVSNYKNLNFENLRETLRTFHKETGRKDQKQ
  PTQNGQEELFLDNEMSLPLENTIPFRNVMTALQFPKIMEFLPVLLPRHFKWIIGSGSKEM
  LKEIEEILGTHPWKLGFSKITYREWKLLRCEASWIAFCQCESLLQLMTDLEKNALIMYSR
  LKQICREDGHTYVEVNDLTLTLSNHMSFHAASESLKFLKDIGVVTYEKSCVFPYDLYHAE
  RAIAFSICDLMKKPPWHLCVDVEKVLASIHTTKPENSSDDALNESKPDEVRLENPVDVVD
  TQDNGDHIWTNGENEINAEISEVQLDQDQVEVPLDRDQVAALEMICSNPVTVISGKGGCG
  KTTIVSRLFKHIEQLEEREVKKACEDFEQDQNASEEWITFTEQSQLEADKAIEVLLTAPT
  GKAAGLLRQKTGLHAYTLCQVNYSFYSWTQTMMTTNKPWKFSSVRVLVVDEGSLVSVGIF
  KSVLNLLCEHSKLSKLIILGDIRQLPSIEPGNLLKDLFETLKSRNCAIELKTNHRAESQL
  IVDNATRISRRQFPKFDAELNISDNPTLPISIQDKTFIFVRLPEEDASSQSSKTNHHSCL
  YSAVKTLLQENNLQNAKTSQFIAFRRQDCDLINDCCCKHYTGHLTKDHQSRLVFGIGDKI
  CCTRNAYLSDLLPENISGSQQNNDLDASSEDFSGTLPDFAKNKRDFESNVRLCNGEIFFI
  TNDVTDVTFGKRRSLTINNMAGLEVTVDFKKLMKYCRIKHAWARTIHTFQGSEEQTVVYV
  VGKAGRQHWQHVYTAVTRGRCRVYVIAEESQLRNAIMKNSFPRKTRLKHFLQSKLSSSGA
  PPADFPSPRKSSGDSGGPSTPSASPLPVVTDHAMTNDVTWSEASSPDERTLTFAERWQLS
  SPDGVDTDDDLPKSRASKRTCGVNDDESPSKIFMVGESPQVSSRLQNLRLNNLIPRQLFK
  PTDNQET

• Sequence length: 1087

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OVARIAN CARCINOMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Crohn Disease	Crohn Disease	BEFREE	25182475		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31339696		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	30452045		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30452045		★☆☆☆☆ Found in Text Mining only