Hemoglobin subunit beta (HBB)
The protein contains 147 amino acids for an estimated molecular weight of 15998 Da.
Involved in oxygen transport from the lung to the various peripheral tissues.', 'LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.', 'functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation. (updated: Dec. 11, 2019)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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Biological Process
Bicarbonate transport
Blood coagulation
Cellular oxidant detoxification
Hydrogen peroxide catabolic process
Neutrophil degranulation
Nitric oxide transport
Oxidation-reduction process
Oxygen transport
Platelet aggregation
Positive regulation of cell death
Positive regulation of nitric oxide biosynthetic process
Protein heterooligomerization
Receptor-mediated endocytosis
Regulation of blood pressure
Regulation of blood vessel size
Renal absorption
Response to hydrogen peroxide
Small molecule metabolic process
The reference OMIM entry for this protein is 140700
Heinz body anemias
A number sign (#) is used with this entry because Heinz body anemia is observed with several mutations in either the alpha-globin (HBA; 141800) or the beta-globin (HBB; 141900) gene. This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Specific defects of the beta-globin gene have been demonstrated as the basis of Heinz body anemia associated with Hb Bruxelles (141900.0033), Hb Hammersmith (141900.0100), Hb Indianapolis (141900.0117), Hb St. Louis (141900.0268), and Hb Tacoma (141900.0278). Hb Toyama (141800.0152) is an example of a Heinz body anemia due to mutation in an alpha-globin gene. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies; 208530). Rees et al. (1996) reinvestigated the patient who was the subject of the first description of idiopathic Heinz body anemia (Cathie, 1952) and who was subsequently shown to have hemoglobin Bristol (141900.0030). The patient was a 5-year-old boy with anemia from birth and no obvious precipitating toxic agents. The child was first seen at age 16 months, when he was jaundiced, with a hemoglobin of 7 g/dl, punctate basophilia, and 37% reticulocytes. A diagnosis of congenital achloruric jaundice was made and the spleen removed. He received blood transfusions regularly until he was 15, when they were stopped with no adverse effects. At the time of the report by Rees et al. (1996), the patient was 47 years old and in good health. His steady-state hemoglobin was 7.5 g/dl. He had suffered one hemolytic crisis following food poisoning in 1991 but did not need a transfusion. He had 2 subarachnoid hemorrhages in his twenties, with no residual deficit. He had valvular heart disease following rheumatic fever at age 16. None of his relatives, including parents and 5 sibs, suffered from hemolysis or anemia. The 2 unrelated patients studied by Rees et al. (1996) were the Japanese patients of Ohba et al. (1985). Severe Heinz body anemia, in addition to methemoglobinemia, is associated with Hb St. Louis (140900.0268). ... More on the omim web site
Jan. 22, 2020: Protein entry updated
Automatic update: Entry updated from uniprot information.
May 12, 2019: Protein entry updated
Automatic update: model status changed
Nov. 17, 2018: Protein entry updated
Automatic update: model status changed
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
June 20, 2017: Protein entry updated
Automatic update: comparative model was added.
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 140700 was added.
Feb. 25, 2016: Protein entry updated
Automatic update: model status changed
Jan. 28, 2016: Protein entry updated
Automatic update: model status changed
Jan. 24, 2016: Protein entry updated
Automatic update: model status changed