HPR haptoglobin-related protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: HPRprovided by HGNC
Official Full Name: haptoglobin-related proteinprovided by HGNC
Primary source: HGNC:HGNC:5156
See related: Ensembl:ENSG00000261701 MIM:140210; AllianceGenome:HGNC:5156
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HP; A-259H10.2
Summary: This gene encodes a haptoglobin-related protein that binds hemoglobin as efficiently as haptoglobin. Unlike haptoglobin, plasma concentration of this protein is unaffected in patients with sickle cell anemia and extensive intravascular hemolysis, suggesting a difference in binding between haptoglobin-hemoglobin and haptoglobin-related protein-hemoglobin complexes to CD163, the hemoglobin scavenger receptor. This protein may also be a clinically important predictor of recurrence of breast cancer. [provided by RefSeq, Oct 2011]
Expression: Restricted expression toward liver (RPKM 3276.0) See more
Orthologs: all
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Genomic context

Location:: 16q22.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (72063226..72077246)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (77879540..77893560)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (72097125..72111145)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Haptoglobin-Related Protein without Signal Peptide as Biomarker of Renal Salt Wasting in Hyponatremia, Hyponatremia-Related Diseases and as New Syndrome in Alzheimer's Disease.
Title: Haptoglobin-Related Protein without Signal Peptide as Biomarker of Renal Salt Wasting in Hyponatremia, Hyponatremia-Related Diseases and as New Syndrome in Alzheimer's Disease.
Haptoglobin-related protein in human plasma correlates to haptoglobin concentrations and phenotypes.
Title: Haptoglobin-related protein in human plasma correlates to haptoglobin concentrations and phenotypes.
Haptoglobin polymorphisms in Latin American populations.
Title: Haptoglobin polymorphisms in Latin American populations.
These results indicate that HPR is a potential serologic biomarker which can differentiate between bacterial pneumonia and nonbacterial pneumonia. Detection of serum HPR might be useful for clinical diagnosis.
Title: Lectin Microarray Combined with Mass Spectrometry Identifies Haptoglobin-Related Protein (HPR) as a Potential Serologic Biomarker for Separating Nonbacterial Pneumonia from Bacterial Pneumonia in Childhood.
the haptoglobin (HP) rs8062041 appeared to be protective against African Trypanosomiasis; HPR is adjacent to HP and is a component of the Trypanolytic factor; the HP and HPR locus is duplicated in some people; the rs8062041 variant may be associated with this duplication and it is possible that increased production of HPR is the cause of protection associated with rs806204
Title: A polymorphism in the haptoglobin, haptoglobin related protein locus is associated with risk of human sleeping sickness within Cameroonian populations.
Data indicate that haptoglobin-related protein (Hpr) is presented at the surface of hepG2 cells.
Title: A retained secretory signal peptide mediates high density lipoprotein (HDL) assembly and function of haptoglobin-related protein.
Our analysis illustrates the complex interplay between functions and haplotypes of adjacent genes, environmental context and natural selection, and offers insights into potential use of haptoglobin or haptoglobin-related protein as therapeutic agents.
Title: Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol.
show that trypanosome lytic factor-1 resistance in Trypanosoma brucei brucei is caused by reduced expression of the Hp/Hb receptor gene.
Title: Mechanism of Trypanosoma brucei gambiense (group 1) resistance to human trypanosome lytic factor.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC17875P5 (e-PCR)
- UniSTS:271654

PMC17875P6 (e-PCR)
- UniSTS:271655

PMC17875P7 (e-PCR)
- UniSTS:271656

SHGC-60783 (e-PCR)
- UniSTS:30516

SHGC-61149 (e-PCR)
- UniSTS:9031

STS-N39323 (e-PCR)
- UniSTS:75080

HP_143 (e-PCR)
- UniSTS:277326

SHGC-9008 (e-PCR)
- UniSTS:18522

RH70305 (e-PCR)
- UniSTS:52609

GDB:181556 (e-PCR)
- UniSTS:155282

NoName (e-PCR)
- UniSTS:483222

GDB:181606 (e-PCR)
- UniSTS:155313

RH77931 (e-PCR)
- UniSTS:25781

RH69592 (e-PCR)
- UniSTS:29663

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hemoglobin binding	NAS Non-traceable Author Statement more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
part_of spherical high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: haptoglobin-related protein

Names: Haptoglobin-related locus

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030311.1 RefSeqGene

Range

5001..19021

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001384360.1 → NP_001371289.1 haptoglobin-related protein isoform 2

Status: REVIEWED

Source sequence(s)

AC009087

UniProtKB/TrEMBL

Q6PEJ8

Conserved Domains (1) summary

cd00190
Location:10 → 224

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_020995.4 → NP_066275.3 haptoglobin-related protein isoform 1 precursor

See identical proteins and their annotated locations for NP_066275.3

Status: REVIEWED

Source sequence(s)

AV698541, BM547990, CB115435, CB147217, H93376, N55255, T71114

Consensus CDS

CCDS42193.1

UniProtKB/Swiss-Prot

P00739, Q7LE20, Q92658, Q92659, Q9ULB0

UniProtKB/TrEMBL

J3QR68

Related

ENSP00000441828.2, ENST00000540303.7

Conserved Domains (2) summary

smart00020
Location:103 → 341

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:104 → 344

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

72063226..72077246

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024450251.2 → XP_024306019.1 haptoglobin-related protein isoform X1

UniProtKB/TrEMBL

J3QR68

Conserved Domains (1) summary

cd00190
Location:110 → 350

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...