HELB - DNA helicase B Gene

Homo sapiens

Also known as DHB; hDHB

Gene ID: 92797 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

UvrD_C_2

0
200
400
600
800
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06114	HELB Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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