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

Gene ID: 3250, updated on 7-Apr-2024

Summary

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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

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Location:
16q22.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (72063226..72077246)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77879540..77893560)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72097125..72111145)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:72057307-72058506 Neighboring gene dihydroorotate dehydrogenase (quinone) Neighboring gene haptoglobin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:72132901-72133401 Neighboring gene thioredoxin like 4B Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:72141414-72142613 Neighboring gene DEAH-box helicase 38 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11093 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:72159455-72159956 Neighboring gene NANOG hESC enhancer GRCh37_chr16:72162293-72163093 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:72163923-72164424 Neighboring gene polyamine modulated factor 1 binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:72171124-72171624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11095 Neighboring gene uncharacterized LOC105371341

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. 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. Maesaka JK, et al. Biomolecules, 2023 Apr 1. PMID 37189385, Free PMC Article
  2. Haptoglobin-related protein in human plasma correlates to haptoglobin concentrations and phenotypes. Skytthe MK, et al. Scand J Clin Lab Invest, 2022 Oct. PMID 36129375
  3. 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. Yang L, et al. Proteomics Clin Appl, 2018 Nov. PMID 29785832
  4. A retained secretory signal peptide mediates high density lipoprotein (HDL) assembly and function of haptoglobin-related protein. Harrington JM, et al. J Biol Chem, 2014 Sep 5. PMID 25037218, Free PMC Article
  5. Haptoglobin-related protein is a high-affinity hemoglobin-binding plasma protein. Nielsen MJ, et al. Blood, 2006 Oct 15. PMID 16778136

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Haptoglobin polymorphisms in Latin American populations.
    Title: Haptoglobin polymorphisms in Latin American populations.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 PubMed 
located_in extracellular exosome HDA 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

  1. NG_030311.1 RefSeqGene

    Range
    5001..19021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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 ...

  2. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    72063226..72077246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    77879540..77893560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380207.1 → XP_054236182.1  haptoglobin-related protein isoform X1

  2. XM_054380208.1 → XP_054236183.1  haptoglobin-related protein isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P00739.2 GenPept UniProtKB/Swiss-Prot:P00739

Gene LinkOut

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