MGP Database

MGP001416

UniProt Annotations

Entry Information

Gene Name	hemoglobin, beta
Protein Entry	HBB_HUMAN
UniProt ID	P68871
Species	Human

Comments

Comment type	Description
Caution	The modification form of Leu-142 is subject of controversy and could be the artifactual result of sample handling. {ECO:0000305\|PubMed:1520632}.
Disease	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.
Disease	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:0000269\|PubMed:1971109}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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:0000269\|PubMed:186485, ECO:0000269\|PubMed:2599881, ECO:0000269\|PubMed:6259091, ECO:0000269\|PubMed:8704193}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
Disease	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.
Function	Involved in oxygen transport from the lung to the various peripheral tissues.
Function	LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.
Function	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.
Interaction	P69905:HBA2; NbExp=20; IntAct=EBI-715554, EBI-714680; P02008:HBZ; NbExp=2; IntAct=EBI-715554, EBI-719843;
Mass Spectrometry	Mass=1310; Method=FAB; Range=33-42; Evidence={ECO:0000269\|PubMed:1575724};
Miscellaneous	One molecule of 2,3-bisphosphoglycerate can bind to two beta chains per hemoglobin tetramer.
Ptm	Acetylated on Lys-60, Lys-83 and Lys-145 upon aspirin exposure. {ECO:0000269\|PubMed:4531009}.
Ptm	Glucose reacts non-enzymatically with the N-terminus of the beta chain to form a stable ketoamine linkage. This takes place slowly and continuously throughout the 120-day life span of the red blood cell. The rate of glycation is increased in patients with diabetes mellitus.
Ptm	S-nitrosylated; a nitric oxide group is first bound to Fe(2+) and then transferred to Cys-94 to allow capture of O(2). {ECO:0000269\|PubMed:1520632, ECO:0000269\|PubMed:8637569, ECO:0000269\|PubMed:9843411}.
Similarity	Belongs to the globin family. {ECO:0000255\|PROSITE- ProRule:PRU00238}.
Subunit	Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA). Heterotetramer of two zeta chains and two beta chains in hemoglobin Portland-2, detected in fetuses and neonates with homozygous alpha-thalassemia. {ECO:0000269\|PubMed:11747442, ECO:0000269\|PubMed:24100324, ECO:0000269\|PubMed:6539334}.
Tissue Specificity	Red blood cells. {ECO:0000269\|PubMed:6539334}.
Web Resource	Name=HbVar; Note=Human hemoglobin variants and thalassemias; URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBB";
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=HBB";
Web Resource	Name=Wikipedia; Note=Hemoglobin entry; URL="http://en.wikipedia.org/wiki/Hemoglobin";