HLTF Gene - Helicase-Like Transcription Factor
A SWI/SNF family helicase involved in DNA repair, replication stress response, and transcriptional regulation
Gene Information Card
| Symbol | HLTF |
|---|---|
| Full Name | Helicase-Like Transcription Factor |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q25.33 |
| NCBI Gene ID | 6596 ncbi.nlm.nih.gov/gene/6596 |
| Ensembl ID | ENSG00000171794 |
| UniProt ID | Q14527 |
| OMIM ID | 603257 |
| HGNC ID | 11099 |
| Aliases | SMARCA3, HIP116, RUSH, SNF2L3, ZBU1 |
Description
HLTF (Helicase-Like Transcription Factor) encodes a member of the SWI/SNF family of helicases. The protein possesses DNA-dependent ATPase activity and functions in DNA damage tolerance via template switching during replication, as well as in transcriptional regulation. It is involved in the replication stress response and is frequently silenced by promoter hypermethylation in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Promoter hypermethylation silences HLTF expression, impairing DNA repair and promoting genomic instability. | Multiple studies (e.g., Moinova et al., 2002; PMID: 12446719) |
| Gastric Cancer | Loss of HLTF expression via methylation contributes to microsatellite instability and tumor progression. | ClinVar, COSMIC |
| Breast Cancer | HLTF mutations and reduced expression are associated with defective replication fork protection. | COSMIC, literature |
| Lynch Syndrome | HLTF methylation is a potential biomarker for mismatch repair deficiency. | ClinVar, research articles |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.2 | Low |
| Lymph Node | 7.1 | Low |
| Spleen | 6.8 | Low |
| Brain | 3.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 9.5 | Embryonic kidney |
| HCT116 | 7.8 | Colorectal carcinoma |
| MCF7 | 6.4 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.211C>T (p.Arg71Trp) | Missense | <1% | Unknown functional impact; reported in COSMIC |
| c.1025G>A (p.Arg342Gln) | Missense | <1% | Found in colorectal cancer; potential loss of function |
| Promoter hypermethylation | Epigenetic | Variable | Silences gene expression in multiple cancers |
Mutation functional classification
Loss of Function (LOF)
Promoter hypermethylation and truncating mutations lead to loss of HLTF expression, impairing DNA damage tolerance and replication fork stability.
Gain of Function (GOF)
Not well documented; no recurrent activating mutations reported.
Dominant Negative (DN)
Not established for HLTF.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity (GO:0003678) | • ATP binding (GO:0005524) |
| • DNA repair (GO:0006281) | • Transcription by RNA polymerase II (GO:0006366) |
| • Replication fork protection (GO:1990415) | • Chromatin remodeling (GO:0006338) |
Pathways
• Template switching (DNA damage tolerance) (Reactome: R-HSA-110313)
• Fanconi anemia pathway (KEGG: hsa03460)
• Transcription-coupled nucleotide excision repair (Reactome: R-HSA-75953)
Protein Summary
HLTF is a 1009-amino acid protein containing a SNF2-related helicase domain and a RING finger domain. It functions as a DNA-dependent ATPase that promotes replication fork reversal and template switching to bypass DNA lesions. The protein also acts as a transcription factor, binding to specific DNA sequences to regulate gene expression. HLTF is frequently silenced by promoter methylation in colorectal, gastric, and other cancers, suggesting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLTF Knockout HEK293 Cell Line | EDJ-KQ5804 | Human | 6596 | Details Get a Quote |
| HLTF Knockout HeLa Cell Line | EDJ-KQ27963 | Human | 6596 | Details Get a Quote |
| HLTF Knockout A-549 Cell Line | EDJ-KQ29223 | Human | 6596 | Details Get a Quote |
| HLTF Knockout HCT 116 Cell Line | EDJ-KQ29224 | Human | 6596 | Details Get a Quote |
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