RBCC Red Blood Cell Collection

HPT_HUMAN

Source: PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: HP
Protein names and data: HPT_HUMAN , Haptoglobin , Zonulin; Haptoglobin alpha chain; Haptoglobin beta chain; Flags: Precursor Lenght: 406 a.a.
Mass: 45205 Da
fasta formatted sequence
Function: As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an Antimicrobial; Antioxidant, has antibacterial activity and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidely cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation pathway. Uncleaved haptoglogin, also known as zonulin, plays a role in intestinal permeability, allowing intercellular tight junction disassembly, and controlling the equilibrium between tolerance and immunity to non-self antigens.
Disease: ( OMIM: 140100 614081 ) Anhaptoglobinemia (AHP) [MIM:614081]: A condition characterized by the absence of the serum glycoprotein haptoglobin. Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin. Congenital haptoglobin deficiency is a risk factor for anaphylactic non-hemolytic transfusion reactions. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Secreted.
Tissue specificity: Expressed by the liver and secreted in plasma.

Genetic variants

In the human populations there are two major allelic forms, alpha-1 (1-1) with 83 residues and alpha-2 (2-2) with 142 residues. These alleles determine 3 possible genotypes, homozygous (1-1 or 2-2) and heterozygous (2-1), and 3 major phenotypes HP*1F/HP*1S and HP*2FS. The two main alleles of HP*1 are called HP*1F (fast) and HP*1S (slow). The alleles exhibit different oligomerization properties. In healthy males, but not in females, the Hp 2-2 phenotype is associated with higher serum iron, decreased Antimicrobial; Antioxidant capability, and less efficient clearance from the circulation, than Hp 1-1 and 2-1.

29 - 87 Missing (in allele HP*1F and allele HP*1S). VAR_017112
129 - 129 N -> D (in allele HP*1F). VAR_005294
130 - 130 E -> K (in allele HP*1F). VAR_017113
247 - 247 I -> T (in AHP; causes reduced expression of the protein; dbSNP:rs104894517). VAR_066214 104894517
397 - 397 D -> H (in dbSNP:rs12646). VAR_017114 12646

Database cross-references

UniProt: P00738
Ensembl: ENST00000355906
Ensembl: ENST00000398131
Ensembl: ENST00000565574
Ensembl: ENST00000570083
MIM: 140100
MIM: 614081
neXtProt: NX_P00738
Antibodypedia: P00738 (may not find the protein thus also not any antibody)
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