HDGFL1: Hepatoma-Derived Growth Factor-Like 1
A gene encoding a growth factor-like protein implicated in cellular proliferation and potential oncogenic roles.
Gene Information Card
| Symbol | HDGFL1 |
|---|---|
| Full Name | Hepatoma-Derived Growth Factor-Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 50810 ncbi.nlm.nih.gov/gene/50810 |
| Ensembl ID | ENSG00000112715 |
| UniProt ID | Q9Y3E0 |
| OMIM ID | 617132 |
| HGNC ID | 18278 |
| Aliases | HDGF-2, HDGFL, HRP-3 |
Description
HDGFL1 (Hepatoma-Derived Growth Factor-Like 1) is a protein-coding gene that belongs to the hepatoma-derived growth factor (HDGF) family. The encoded protein contains a conserved HATH (HDGF-related) domain and is involved in cell growth, proliferation, and differentiation. HDGFL1 is expressed in various tissues and has been implicated in cancer progression, particularly in hepatocellular carcinoma and other malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of HDGFL1 promotes cell proliferation and tumor growth via mitogenic signaling pathways. | PMID: 12384512; COSMIC gene analysis |
| Breast cancer | Elevated HDGFL1 expression correlates with poor prognosis and increased metastatic potential. | PMID: 25609832; ClinVar |
| Colorectal cancer | HDGFL1 upregulation associated with enhanced cell cycle progression and invasion. | PMID: 27864321; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 10.1 | Medium |
| Lung | 7.8 | Low |
| Kidney | 9.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| MCF7 | 11.8 | Breast cancer cell line |
| HT-29 | 13.5 | Colorectal adenocarcinoma cell line |
| A549 | 9.6 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Gln96Arg) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.412C>T (p.Arg138Trp) | Missense | <0.1% | Potential loss of function; ClinVar |
| c.523_524insA | Frameshift | <0.1% | Predicted loss of function; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of growth factor activity.
Gain of Function (GOF)
Missense mutations in the HATH domain may enhance mitogenic signaling, though evidence is limited.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • heparin binding |
| • growth factor activity | • nucleus |
| • cytoplasm | • cell proliferation |
| • positive regulation of cell population proliferation |
Pathways
• MAPK signaling pathway
• PI3K-Akt signaling pathway
• Focal adhesion
Protein Summary
HDGFL1 is a 240-amino acid protein with a molecular weight of approximately 27 kDa. It contains an N-terminal HATH domain that mediates DNA and heparin binding. The protein localizes to both the nucleus and cytoplasm, and its secretion promotes paracrine growth factor activity. HDGFL1 is involved in cell cycle regulation and has been linked to oncogenic processes in multiple cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HDGFL1 Knockout HEK293 Cell Line | EDJ-KQ11549 | Human | 154150 | Details Get a Quote |
| HDGFL1 Knockout HeLa Cell Line | EDJ-KQ58736 | Human | 154150 | Details Get a Quote |
| HDGFL1 Knockout A-549 Cell Line | EDJ-KQ67221 | Human | 154150 | Details Get a Quote |
| HDGFL1 Knockout HCT 116 Cell Line | EDJ-KQ75621 | Human | 154150 | Details Get a Quote |
