HLF (HLF Transcription Factor, PAR bZIP Family Member)
A key regulator of circadian rhythm and hematopoiesis, implicated in leukemia and hepatic functions.
Gene Information Card
| Symbol | HLF |
|---|---|
| Full Name | HLF transcription factor, PAR bZIP family member |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 3131 ncbi.nlm.nih.gov/gene/3131 |
| Ensembl ID | ENSG00000108924 |
| UniProt ID | Q16534 |
| OMIM ID | 142410 |
| HGNC ID | 4977 |
| Aliases | MGC3349, DKFZp686K1612 |
Description
The HLF gene encodes a transcription factor belonging to the PAR (proline and acidic amino acid-rich) bZIP (basic leucine zipper) family. It is involved in the regulation of circadian rhythm, particularly in the liver, and plays roles in hematopoiesis and neuronal development. HLF can act as an oncogene when fused to other genes in certain leukemias.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia (ALL) | Chromosomal translocations (e.g., t(17;19)) fuse HLF with TCF3 (E2A), creating a chimeric oncoprotein that disrupts normal transcriptional programs. | COSMIC, literature |
| Hepatic dysfunction | HLF regulates circadian expression of hepatic genes; dysregulation may contribute to metabolic disorders. | OMIM, literature |
| Neuronal development disorders | HLF is expressed in developing brain; altered expression may be linked to neurodevelopmental phenotypes. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | High |
| Kidney | 8.1 | Medium |
| Brain | 5.2 | Low |
| Lung | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line; high expression |
| K562 | 2.1 | Chronic myeloid leukemia; low expression |
| A549 | 1.8 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| TCF3-HLF fusion | Chromosomal translocation | Rare in ALL | Oncogenic fusion protein with aberrant transcriptional activity |
| Missense variants | SNV | Low frequency | Potential impact on DNA binding or dimerization |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are not well characterized; likely affect circadian regulation and hematopoiesis.
Gain of Function (GOF)
Gain-of-function is primarily seen via fusion oncoproteins (e.g., TCF3-HLF) that drive leukemogenesis.
Dominant Negative (DN)
Dominant-negative effects may occur with certain mutations that disrupt dimerization or DNA binding.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • circadian rhythm | • regulation of transcription by RNA polymerase II |
Pathways
• Circadian rhythm
• Hematopoietic cell lineage
Protein Summary
The HLF protein is a 295-amino acid transcription factor with a bZIP domain that mediates dimerization and DNA binding. It recognizes specific DNA sequences (e.g., D-box elements) and regulates circadian gene expression. In the liver, it controls rhythmic expression of metabolic enzymes. In hematopoiesis, it influences progenitor cell survival and differentiation. Aberrant forms, such as TCF3-HLF fusions, contribute to leukemogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HLF Knockout HEK293 Cell Line | EDJ-KQ2424 | Human | 3131 | Details Get a Quote |
| HLF Knockout HCT 116 Cell Line | EDJ-KQ22934 | Human | 3131 | Details Get a Quote |
| HLF Knockout HeLa Cell Line | EDJ-KQ53527 | Human | 3131 | Details Get a Quote |
| HLF Knockout A-549 Cell Line | EDJ-KQ62000 | Human | 3131 | Details Get a Quote |
