HPR Gene (Haptoglobin-Related Protein)
Genetic and Functional Insights into HPR
Gene Information Card
| Symbol | HPR |
|---|---|
| Full Name | Haptoglobin-Related Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.2 |
| NCBI Gene ID | 3250 ncbi.nlm.nih.gov/gene/3250 |
| Ensembl ID | ENSG00000261701 |
| UniProt ID | P00739 |
| OMIM ID | 140210 |
| HGNC ID | 5142 |
| Aliases | HP, HPR1 |
Description
The HPR gene encodes haptoglobin-related protein, a member of the haptoglobin family. This protein binds free hemoglobin in plasma, facilitating its clearance and preventing oxidative damage. HPR is involved in the immune response and has been implicated in trypanosome lysis and various diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Trypanosomiasis | HPR protein mediates lysis of Trypanosoma brucei through hemoglobin binding | PMID: 15601830 |
| Anemia, hemolytic | Altered haptoglobin-related protein function may impair hemoglobin clearance | PMID: 23434555 |
| Cardiovascular disease | HPR polymorphisms associated with altered hemoglobin binding and oxidative stress | PMID: 25678912 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Bone Marrow | 5.1 | Low |
| Lung | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte cell line |
| K562 | 6.8 | Erythroleukemia cell line |
| THP-1 | 3.5 | Monocytic cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | 0.01% | Missense, uncertain significance |
| c.245C>T | SNV | 0.05% | Nonsense, loss of function |
| c.389G>A | SNV | 0.02% | Missense, reduced hemoglobin binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.245C>T) lead to premature stop codons and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported in HPR.
Dominant Negative (DN)
No dominant-negative mutations reported in HPR.
View complete mutation data:
Gene Ontology (GO)
| • hemoglobin binding | • haptoglobin binding |
| • extracellular region | • protein homodimerization activity |
| • response to oxidative stress |
Pathways
• Hemoglobin clearance
• Complement and coagulation cascades
• Innate immune system
Protein Summary
Haptoglobin-related protein (HPR) is a 347-amino acid glycoprotein that forms complexes with hemoglobin. It is primarily expressed in the liver and circulates in plasma. HPR plays a role in protecting against oxidative damage by scavenging free hemoglobin and has antimicrobial activity against trypanosomes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HPRT1 Knockout HEK293 Cell Line | EDJ-KQ3913 | Human | 3251 | Details Get a Quote |
| HPR Knockout HEK293 Cell Line | EDJ-KQ4929 | Human | 3250 | Details Get a Quote |
| GRHPR Knockout HEK293 Cell Line | EDJ-KQ6568 | Human | 9380 | Details Get a Quote |
| SHPRH Knockout HEK293 Cell Line | EDJ-KQ11864 | Human | 257218 | Details Get a Quote |
| HPRT1 Knockout A-549 Cell Line | EDJ-KQ26134 | Human | 3251 | Details Get a Quote |
| HPRT1 Knockout HCT 116 Cell Line | EDJ-KQ26135 | Human | 3251 | Details Get a Quote |
| HPRT1 Knockout HeLa Cell Line | EDC90498 | Human | 3251 | Details Get a Quote |
| SHPRH Knockout HeLa Cell Line | EDJ-KQ39050 | Human | 257218 | Details Get a Quote |
| GRHPR Knockout A-549 Cell Line | EDJ-KQ30773 | Human | 9380 | Details Get a Quote |
| GRHPR Knockout HCT 116 Cell Line | EDJ-KQ30774 | Human | 9380 | Details Get a Quote |
| GRHPR Knockout HeLa Cell Line | EDJ-KQ30775 | Human | 9380 | Details Get a Quote |
| SHPRH Knockout A-549 Cell Line | EDJ-KQ40291 | Human | 257218 | Details Get a Quote |
| SHPRH Knockout HCT 116 Cell Line | EDJ-KQ40292 | Human | 257218 | Details Get a Quote |
| HPR Knockout HeLa Cell Line | EDJ-KQ53567 | Human | 3250 | Details Get a Quote |
| HPR Knockout A-549 Cell Line | EDJ-KQ62034 | Human | 3250 | Details Get a Quote |
Displaying Records 1 To 15 Of 17 Records