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

Gene ID: 3250, updated on 5-Jan-2022

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
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
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Genomic context

See HPR in Genome Data Viewer
Location:
16q22.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (72063226..72077246)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72097125..72111145)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene dihydroorotate dehydrogenase (quinone) Neighboring gene thioredoxin like 4B Neighboring gene haptoglobin Neighboring gene DEAH-box helicase 38 Neighboring gene polyamine modulated factor 1 binding protein 1

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

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
PubMed 
Process Evidence Code Pubs
involved_in acute inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of cell death IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in zymogen activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

    Status: REVIEWED

    Source sequence(s)
    AC009087
    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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    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 ...
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