HELB (DNA Helicase B)
A key helicase involved in DNA replication, repair, and genome stability
Gene Information Card
| Symbol | HELB |
|---|---|
| Full Name | DNA Helicase B |
| Gene Type | Protein coding |
| Chromosomal Location | 12q14.3 |
| NCBI Gene ID | 92797 ncbi.nlm.nih.gov/gene/92797 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q9NVP1 |
| OMIM ID | 604123 |
| HGNC ID | 24964 |
| Aliases | HDHB, HELB, DNA helicase B |
Description
HELB (DNA Helicase B) encodes a helicase involved in DNA replication and repair. It unwinds DNA in the 5' to 3' direction and plays a role in maintaining genome stability. The protein is localized to the nucleus and interacts with components of the replication fork. HELB is implicated in cellular responses to DNA damage and may influence cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered HELB expression may affect DNA repair capacity, contributing to genomic instability | COSMIC, ClinVar |
| Colorectal cancer | Mutations in HELB reported in tumor samples, potential role in replication stress | COSMIC |
| Lung cancer | Somatic mutations observed; functional impact under investigation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| K562 | 7.5 | Leukemia cell line |
| A549 | 6.8 | Lung cancer cell line |
| MCF7 | 5.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function, predicted truncation |
| c.567G>A (p.Met189Ile) | Missense | <0.01% | Unknown significance |
| c.890_891insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing helicase activity and DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported in HELB.
Dominant Negative (DN)
No dominant-negative mutations characterized for HELB.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity | • ATP binding |
| • DNA binding | • DNA replication |
| • DNA repair | • nucleus |
Pathways
• DNA replication
• DNA damage response
• Fanconi anemia pathway
Protein Summary
HELB is a 1067-amino acid DNA helicase that unwinds DNA in the 5' to 3' direction. It contains a conserved helicase domain and is involved in replication fork progression and repair. The protein interacts with PCNA and other replication factors. HELB is expressed in multiple tissues, with highest levels in testis. Mutations in HELB are rare but have been identified in various cancers, suggesting a role in tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HELB Knockout HEK293 Cell Line | EDJ-KQ11078 | Human | 92797 | Details Get a Quote |
| HELB Knockout A-549 Cell Line | EDJ-KQ39007 | Human | 92797 | Details Get a Quote |
| HELB Knockout HCT 116 Cell Line | EDJ-KQ39008 | Human | 92797 | Details Get a Quote |
| HELB Knockout HeLa Cell Line | EDJ-KQ39009 | Human | 92797 | Details Get a Quote |
