Homo sapiens Gene: HP | |||||||||||||||||||||
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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 |
haptoglobin
haptoglobin
haptoglobin
haptoglobin
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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] |
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Gene Information | |||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||
Genomic Location | Chromosome 16:72054592-72061055 | ||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||
Band | q22.2 | ||||||||||||||||||||
Transcripts | |||||||||||||||||||||
Interactions | |||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||
No orthologs found for this gene | |||||||||||||||||||||
Pathways | |||||||||||||||||||||
NETPATH | |||||||||||||||||||||
REACTOME |
Scavenging of heme from plasma pathway
Binding and Uptake of Ligands by Scavenger Receptors pathway
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KEGG |
African trypanosomiasis pathway
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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 | ||||||||||||||||||||