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.

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 Products

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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
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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
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