Version 5.4
Homo sapiens Gene: HP
Summary
InnateDB Gene IDBG-547150.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HP
Gene Name haptoglobin
Synonyms BP; HP2ALPHA2; HPA1S
Species Homo sapiens
Ensembl Gene ENSG00000257017
Encoded Proteins
IDBP-41492
haptoglobin
IDBP-41494
haptoglobin
IDBP-233821
haptoglobin
IDBP-748837
IDBP-750632
IDBP-748948
IDBP-751881
IDBP-748369
IDBP-752122
IDBP-752382
IDBP-753408
IDBP-751416
IDBP-812880
haptoglobin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn\'s disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson\'s disease, and a reduced incidence of Plasmodium falciparum malaria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:72054592-72061055
Strand Forward strand
Band q22.2
Transcripts
ENST00000357763 ENSP00000350406
ENST00000355906 ENSP00000348170
ENST00000398131 ENSP00000381199
ENST00000569639 ENSP00000463755
ENST00000565807
ENST00000565574 ENSP00000454966
ENST00000570083 ENSP00000457629
ENST00000568417 ENSP00000462662
ENST00000564499 ENSP00000456503
ENST00000562526 ENSP00000454413
ENST00000566821
ENST00000567612 ENSP00000463491
ENST00000561927
ENST00000567185 ENSP00000464070
ENST00000562488
ENST00000576168 ENSP00000461999
ENST00000613898 ENSP00000478279
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated
Total 21 [view]
Protein-Protein 20 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0016209 antioxidant activity
GO:0030492 hemoglobin binding
Biological Process
GO:0002376 immune system process
GO:0006508 proteolysis
GO:0006952 defense response
GO:0006953 acute-phase response
GO:0008152 metabolic process
GO:0010942 positive regulation of cell death
GO:0042542 response to hydrogen peroxide
GO:0042742 defense response to bacterium
GO:0051354 negative regulation of oxidoreductase activity
GO:2000296 negative regulation of hydrogen peroxide catabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0031838 haptoglobin-hemoglobin complex
GO:0034366 spherical high-density lipoprotein particle
GO:0070062 extracellular vesicular exosome
GO:0071682 endocytic vesicle lumen
GO:0072562 blood microparticle
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_160163
Scavenging of heme from plasma pathway
REACT_160300
Binding and Uptake of Ligands by Scavenger Receptors pathway
KEGG
hsa05143
African trypanosomiasis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL J3KSV1
UniProt Splice Variant
Entrez Gene 3250
UniGene Hs.513711
RefSeq NM_001126102 NM_005143 XM_005255922
HUGO HGNC:5141
OMIM 140100 140210
CCDS CCDS45524 CCDS45525
HPRD 00772
IMGT
EMBL AC009087
GenPept
RNA Seq Atlas 102725471 3240 3250

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca