HDLBP: Vigilin – A Multifunctional RNA-Binding Protein in Lipid Metabolism and Disease
Comprehensive biomedical reference for HDLBP (Vigilin) – gene structure, expression, disease associations, mutations, and functional annotations from authoritative databases.
Gene Information Card
| Symbol | HDLBP |
|---|---|
| Full Name | High Density Lipoprotein Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 3069 ncbi.nlm.nih.gov/gene/3069 |
| Ensembl ID | ENSG00000115677 |
| UniProt ID | Q00341 |
| OMIM ID | 142600 |
| HGNC ID | 4856 |
| Aliases | Vigilin, HBP, VGL, DKFZp686F2170 |
Description
HDLBP (high density lipoprotein binding protein), also known as vigilin, is a protein-coding gene located on chromosome 2q37.3. It encodes a 1268-amino acid protein that contains 14 KH (hnRNP K homology) domains, characteristic of RNA-binding proteins. Vigilin binds to high-density lipoproteins (HDL) and is involved in cellular lipid metabolism, RNA transport, and translational regulation. It is ubiquitously expressed, with highest levels in liver, kidney, and placenta. Mutations and altered expression of HDLBP have been implicated in various cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of HDLBP promotes cell proliferation and migration; acts as an oncogene through RNA-binding activity. | PMID: 25636835; COSMIC |
| Hepatocellular Carcinoma | HDLBP is upregulated in HCC tissues; associated with poor prognosis and lipid metabolism dysregulation. | PMID: 30348673; NCBI Gene |
| Colorectal Cancer | HDLBP expression correlates with tumor stage and metastasis; potential biomarker. | PMID: 31270520; COSMIC |
| Ovarian Cancer | HDLBP knockdown reduces cell viability and invasion; linked to RNA metabolism. | PMID: 28723890; ClinVar |
| Lipid Metabolism Disorders | HDLBP binds HDL and influences cholesterol efflux; variants may affect lipid profiles. | OMIM 142600; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.5 | High |
| Kidney | 32.1 | High |
| Placenta | 28.7 | High |
| Lung | 15.3 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 52.3 | Highest expression among tested lines |
| MCF7 (breast) | 22.1 | Moderate expression |
| A549 (lung) | 14.5 | Low expression |
| HEK293 (embryonic kidney) | 18.7 | Moderate expression |
| K562 (leukemia) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown; predicted benign by SIFT |
| c.2567A>G (p.Asn856Ser) | Missense | <0.01% | Unknown; predicted possibly damaging by PolyPhen |
| c.3456_3457insA (p.Gln1153Thrfs*5) | Frameshift | <0.01% | Loss of function; truncation |
| c.789G>A (p.Trp263*) | Nonsense | <0.01% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Gln1153Thrfs*5, p.Trp263*) lead to truncated protein lacking RNA-binding domains, impairing HDL binding and RNA regulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in major databases.
Dominant Negative (DN)
No evidence for dominant-negative effects; most variants are recessive or of unknown significance.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HDL-mediated lipid transport (Reactome: R-HSA-8963896)
• Metabolism of RNA (Reactome: R-HSA-8953854)
• Gene expression (Reactome: R-HSA-74160)
Protein Summary
Vigilin (HDLBP) is a 141.5 kDa protein with 14 KH domains that mediate RNA binding. It shuttles between nucleus and cytoplasm, participating in mRNA transport, stability, and translation. It also binds HDL particles, suggesting a role in reverse cholesterol transport. Post-translational modifications include phosphorylation at Ser/Thr residues. The protein is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HDLBP Knockout HEK293 Cell Line | EDJ-KQ4860 | Human | 3069 | Details Get a Quote |
| HDLBP Knockout A-549 Cell Line | EDJ-KQ27637 | Human | 3069 | Details Get a Quote |
| HDLBP Knockout HCT 116 Cell Line | EDJ-KQ27638 | Human | 3069 | Details Get a Quote |
| HDLBP Knockout HeLa Cell Line | EDJ-KQ27639 | Human | 3069 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
