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

    Gene ID: 3250, updated on 10-Dec-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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    See HPR in Genome Data Viewer
    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_000016.10Genomic 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 is a high-affinity hemoglobin-binding plasma protein. Nielsen MJ, et al. Blood, 2006 Oct 15. PMID 16778136
    2. Polymorphisms in the human haptoglobin gene cluster: chromosomes with multiple haptoglobin-related (Hpr) genes. Maeda N, et al. Proc Natl Acad Sci U S A, 1986 Oct. PMID 2876426, Free PMC Article
    3. 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
    4. 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
    5. Characterization of the human serum trypanosome toxin, haptoglobin-related protein. Muranjan M, et al. J Biol Chem, 1998 Feb 13. PMID 9461571

    See all (44) 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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    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)

    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
    		  
    Process Evidence Code Pubs
    involved_in zymogen activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    is_active_in blood microparticle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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_2024_08

    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

      UniProtKB/TrEMBL
      J3QR68

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

      UniProtKB/TrEMBL
      Q6NSB4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00739.2 GenPept UniProtKB/Swiss-Prot:P00739

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