HELB - DNA helicase B Gene

Also Known as DHB; hDHB

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 92797

About HELB

Cytogenetic location: 12q14.3 Genomic coordinates (GRCh38): 12:66,302,493-66,343,643 (from NCBI)

This gene has 6 transcripts (splice variants), 156 orthologues and 18 paralogues. Broad expression in bone marrow (RPKM 1.7), appendix (RPKM 1.4) and 24 other tissues.

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]

HELB Products (2)

mRNA Protein Name
NM_001370285.1 NP_001357214.1 DNA helicase B
NM_033647.5 NP_387467.2 DNA helicase B
Molecular Function GO Annotation Evidence References Source
enables 5'-3' DNA helicase activity IDA
IDA: Inferred from direct assay
12181327 GOA
enables protein-containing complex binding IPI
IPI: Inferred from physical interaction
12181327 GOA
enables single-stranded DNA helicase activity IDA
IDA: Inferred from direct assay
12181327 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA damage response IDA
IDA: Inferred from direct assay
26774285 GOA
involved in DNA replication IMP
IMP: Inferred from mutant phenotype
12181327 GOA
involved in DNA replication, synthesis of primer IDA
IDA: Inferred from direct assay
12181327 GOA
involved in negative regulation of double-strand break repair via homologous recombination IMP
IMP: Inferred from mutant phenotype
26774285 GOA
involved in regulation of DNA double-strand break processing IMP
IMP: Inferred from mutant phenotype
26774285 GOA
Cellular Component GO Annotation Evidence References Source
part of DNA replication factor A complex IDA
IDA: Inferred from direct assay
26774285 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
15146062 GOA
located in nucleus IDA
IDA: Inferred from direct assay
15146062 GOA
located in site of double-strand break IMP
IMP: Inferred from mutant phenotype
26774285 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HELB Protein Structure

AAA_30

AAA_30: AAA domain (454 - 674)

UvrD_C_2

UvrD_C_2: UvrD-like helicase C-terminal domain (831 - 926)

  • 0
  • 200
  • 400
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  • 1000
  • 1087 a.a.
Protein Preferred Names Protein Names

DNA helicase B

  • helicase (DNA) B

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 74
  • DFNB74

  • Autosomal Recessive Nonsyndromic Deafness 74

  • Autosomal Recessive Deafness 74

  • Deafness, Autosomal Recessive, 74

  • Deafness, Autosomal Recessive, Type 74

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta HELB VGNC VGNC:73185
Bos taurus HELB VGNC VGNC:29804
Felis catus HELB VGNC VGNC:62789
Canis familiaris HELB VGNC VGNC:41648
Rattus norvegicus HELB RGD RGD:1560103
Mus musculus HELB MGD MGI:2152895
Others HELB NCBI