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

    Gene ID: 3250, updated on 10-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    General protein information

    Preferred Names
    haptoglobin-related protein
    Names
    Haptoglobin-related locus

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001384360.1NP_001371289.1  haptoglobin-related protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009087
      UniProtKB/TrEMBL
      Q6PEJ8
      Conserved Domains (1) summary
      cd00190
      Location:10224
      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_020995.4NP_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:103341
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:104344
      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_024450251.2XP_024306019.1  haptoglobin-related protein isoform X1

      UniProtKB/TrEMBL
      J3QR68
      Conserved Domains (1) summary
      cd00190
      Location:110350
      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_054380207.1XP_054236182.1  haptoglobin-related protein isoform X1

      UniProtKB/TrEMBL
      J3QR68
    2. XM_054380208.1XP_054236183.1  haptoglobin-related protein isoform X2

      UniProtKB/TrEMBL
      Q6NSB4