InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HBB

Summary

InnateDB Protein

IDBP-25810.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HBB

Protein Name

hemoglobin, beta

Synonyms

beta-globin; CD113t-C;

Species

Homo sapiens

Ensembl Protein

ENSP00000333994

InnateDB Gene

IDBG-407852 (HBB)

Protein Structure

UniProt Annotation

Function

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.Spinorphin: 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.

Subcellular Localization

Disease Associations

Heinz body anemias (HEIBAN) [MIM:140700]: Form of non- spherocytic hemolytic anemia of Dacie type 1. 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. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. {ECO:0000269PubMed:186485, ECO:0000269PubMed:2599881, ECO:0000269PubMed:6259091, ECO:0000269PubMed:8704193}. Note=The disease may be caused by mutations affecting the gene represented in this entry.Beta-thalassemia (B-THAL) [MIM:613985]: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta- thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic. Note=The disease is caused by mutations affecting the gene represented in this entry.Sickle cell anemia (SKCA) [MIM:603903]: Characterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues. Note=The disease is caused by mutations affecting the gene represented in this entry.Beta-thalassemia, dominant, inclusion body type (B- THALIB) [MIM:603902]: An autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy. {ECO:0000269PubMed:1971109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Red blood cells. {ECO:0000269PubMed:6539334}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.

Experimentally validated
Total	20 [view]
Protein-Protein	17 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004601	peroxidase activity
GO:0005344	oxygen transporter activity
GO:0005506	iron ion binding
GO:0005515	protein binding
GO:0019825	oxygen binding
GO:0020037	heme binding
GO:0030492	hemoglobin binding
GO:0031720	haptoglobin binding
GO:0046872	metal ion binding

Biological Process

GO:0006810	transport
GO:0007596	blood coagulation
GO:0008217	regulation of blood pressure
GO:0010942	positive regulation of cell death
GO:0015671	oxygen transport
GO:0015701	bicarbonate transport
GO:0030185	nitric oxide transport
GO:0042542	response to hydrogen peroxide
GO:0042744	hydrogen peroxide catabolic process
GO:0044281	small molecule metabolic process
GO:0045429	positive regulation of nitric oxide biosynthetic process
GO:0050880	regulation of blood vessel size
GO:0051291	protein heterooligomerization
GO:0055114	oxidation-reduction process
GO:0070293	renal absorption

Cellular Component

GO:0005576	extracellular region
GO:0005829	cytosol
GO:0005833	hemoglobin complex
GO:0031838	haptoglobin-hemoglobin complex
GO:0070062	extracellular vesicular exosome
GO:0071682	endocytic vesicle lumen
GO:0072562	blood microparticle