HEBP1 Gene (Heme Binding Protein 1)
A comprehensive biomedical overview of HEBP1, including gene structure, expression, disease associations, and functional annotations.
Gene Information Card
| Symbol | HEBP1 |
|---|---|
| Full Name | Heme Binding Protein 1 |
| Gene Type | protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 50865 ncbi.nlm.nih.gov/gene/50865 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q9NRV9 |
| OMIM ID | 617654 |
| HGNC ID | 24967 |
| Aliases | HBP, HEBP, p22HBP, FLJ10156 |
Description
HEBP1 (Heme Binding Protein 1) is a protein-coding gene located on chromosome 12p13.31. It encodes a small heme-binding protein that is involved in heme homeostasis and may play a role in cellular stress responses. The protein is widely expressed in various tissues, with notable levels in the liver and kidney. HEBP1 has been implicated in certain cancers and inflammatory conditions, though its precise physiological functions are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression levels; potential role in apoptosis regulation | COSMIC and literature reports |
| Inflammatory diseases | Modulation of heme-induced inflammation | UniProt and PubMed |
| Neurological disorders | Possible involvement in oxidative stress response | Limited evidence from expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | High |
| Kidney | 12.8 | High |
| Heart | 8.5 | Medium |
| Brain | 5.3 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.4 | Liver cancer cell line |
| A549 | 6.2 | Lung carcinoma |
| MCF7 | 3.5 | Breast cancer |
| HEK293 | 7.8 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% | Unknown; possibly damaging |
| c.789delC (frameshift) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are likely to cause loss of function, potentially affecting heme binding.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • heme binding | • iron ion binding |
| • cellular response to stress | • apoptotic process |
Pathways
• Heme metabolism
• Apoptosis signaling
Protein Summary
The HEBP1 protein is a 22 kDa heme-binding protein that binds heme with high affinity. It is localized in the cytoplasm and may translocate to the nucleus under stress conditions. It is involved in regulating heme availability and protecting cells from heme-induced oxidative damage. The protein is expressed in multiple tissues, with highest levels in liver and kidney, suggesting a role in detoxification and metabolic processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HEBP1 Knockout HEK293 Cell Line | EDJ-KQ10842 | Human | 50865 | Details Get a Quote |
| HEBP1 Knockout A-549 Cell Line | EDJ-KQ38501 | Human | 50865 | Details Get a Quote |
| HEBP1 Knockout HCT 116 Cell Line | EDJ-KQ38502 | Human | 50865 | Details Get a Quote |
| HEBP1 Knockout HeLa Cell Line | EDJ-KQ38503 | Human | 50865 | Details Get a Quote |
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