Human Gene HP (ENST00000355906.10) from GENCODE V44
Description: Homo sapiens haptoglobin (HP), transcript variant 1, mRNA. (from RefSeq NM_005143) RefSeq Summary (NM_005143): 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. The protein encoded also exhibits antimicrobial activity against bacteria. 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, Oct 2014]. Gencode Transcript: ENST00000355906.10 Gencode Gene: ENSG00000257017.10 Transcript (Including UTRs) Position: hg38 chr16:72,054,505-72,061,055 Size: 6,551 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chr16:72,054,653-72,060,890 Size: 6,238 Coding Exon Count: 7
ID:HPT_HUMAN DESCRIPTION: RecName: Full=Haptoglobin; AltName: Full=Zonulin; Contains: RecName: Full=Haptoglobin alpha chain; Contains: RecName: Full=Haptoglobin beta chain; Flags: Precursor; FUNCTION: Haptoglobin combines with free plasma hemoglobin, preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin, while making the hemoglobin accessible to degradative enzymes. FUNCTION: 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. SUBUNIT: Tetramer of two alpha and two beta chains. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma. POLYMORPHISM: In the human populations there are two major allelic forms, alpha-1 with 83 residues and alpha-2 with 142 residues. These alleles determine the 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). DISEASE: Defects in HP are the cause of anhaptoglobinemia (AHP) [MIM:614081]. AHP is 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. SIMILARITY: Belongs to the peptidase S1 family. SIMILARITY: Contains 1 peptidase S1 domain. SIMILARITY: Contains 2 Sushi (CCP/SCR) domains. CAUTION: Although homologous to serine proteases, it has lost all essential catalytic residues and has no enzymatic activity. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HP"; WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HP"; WEB RESOURCE: Name=Wikipedia; Note=Haptoglobin entry; URL="http://en.wikipedia.org/wiki/Haptoglobin";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P00738
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.