HBB
entrez
3043
canonical
uniprot
P68871
canonical
ensembl
ENSG00000244734
resolver
ensp
ENSP00000333994
resolver
ensp
ENSP00000494175
resolver
ensp
ENSP00000553592
resolver
enst
ENST00000335295
resolver
enst
ENST00000647020
resolver
enst
ENST00000883533
resolver
genesymbol
HBB
resolver
genesymbol_syn
GLNA1
resolver
hgnc
HGNC:4827
resolver
uniprot
A4GX73
resolver
uniprot
B2ZUE0
resolver
uniprot
D9YZU5
resolver
uniprot
P02023
resolver
uniprot
Q13852
resolver
uniprot
Q14481
resolver
uniprot
Q14510
resolver
uniprot
Q45KT0
resolver
uniprot
Q549N7
resolver
uniprot
Q6FI08
resolver
uniprot
Q6R7N2
resolver
uniprot
Q8IZI1
resolver
uniprot
Q9BX96
resolver
uniprot
Q9UCD6
resolver
uniprot
Q9UCP8
resolver
uniprot
Q9UCP9
resolver
uniprot_entry
D9YZU5_HUMAN
resolver
uniprot_entry
HBB_HUMAN
resolver
uniprot_sec
A4GX73
resolver
uniprot_sec
B2ZUE0
resolver
uniprot_sec
P02023
resolver
uniprot_sec
Q13852
resolver
uniprot_sec
Q14481
resolver
uniprot_sec
Q14510
resolver
uniprot_sec
Q45KT0
resolver
uniprot_sec
Q549N7
resolver
uniprot_sec
Q6FI08
resolver
uniprot_sec
Q6R7N2
resolver
uniprot_sec
Q8IZI1
resolver
uniprot_sec
Q9BX96
resolver
uniprot_sec
Q9UCD6
resolver
uniprot_sec
Q9UCP8
resolver
uniprot_sec
Q9UCP9
resolver
amino_acid_sequence
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
uniprot
proteins
disease_involvement
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 variants affecting the gene represented in this entry.; 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. {ECO:0000269|PubMed:12144064, ECO:0000269|PubMed:12149194, ECO:0000269|PubMed:15481886, ECO:0000269|PubMed:2399911, ECO:0000269|PubMed:6166632, ECO:0000269|PubMed:7693620}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Sickle cell disease (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 resemble a sickle. These stiffer red blood cells can lead to microvascular occlusion thus cutting off the blood supply to nearby tissues. {ECO:0000269|PubMed:1195378, ECO:0000269|PubMed:13464827, ECO:0000269|PubMed:16001361, ECO:0000269|PubMed:24100324, ECO:0000269|Ref.10}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in oxygen transport from the lung to the various peripheral tissues. {ECO:0000269|PubMed:28066926}.; 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.
uniprot
proteins
mass_dalton
15998
uniprot
proteins
post_translational_modification
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}.; PTM: Acetylated on Lys-60, Lys-83 and Lys-145 upon aspirin exposure. {ECO:0000269|PubMed:4531009}.
uniprot
proteins
protein_family
Globin family
uniprot
proteins
pubmed
1019344
uniprot
proteins
pubmed
10398311
uniprot
proteins
pubmed
10588683
uniprot
proteins
pubmed
11001883
uniprot
proteins
pubmed
1115799
uniprot
proteins
pubmed
11300344
uniprot
proteins
pubmed
11300351
uniprot
proteins
pubmed
1138922
uniprot
proteins
pubmed
11747442
uniprot
proteins
pubmed
1177322
uniprot
proteins
pubmed
11939514
uniprot
proteins
pubmed
1195378
uniprot
proteins
pubmed
12144064
uniprot
proteins
pubmed
12149194
uniprot
proteins
pubmed
12454462
uniprot
proteins
pubmed
12470213
uniprot
proteins
pubmed
1247583
uniprot
proteins
pubmed
12552433
uniprot
proteins
pubmed
12603091
uniprot
proteins
pubmed
12908805
uniprot
proteins
pubmed
1301199
uniprot
proteins
pubmed
13464827
uniprot
proteins
pubmed
13872627
uniprot
proteins
pubmed
13897827
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1487420
uniprot
proteins
pubmed
1507231
uniprot
proteins
pubmed
1511986
uniprot
proteins
pubmed
1517102
uniprot
proteins
pubmed
1520632
uniprot
proteins
pubmed
1540659
uniprot
proteins
pubmed
15481886
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1567857
uniprot
proteins
pubmed
1575724
uniprot
proteins
pubmed
16001361
uniprot
proteins
pubmed
16175509
uniprot
proteins
pubmed
1634367
uniprot
proteins
pubmed
16904236
uniprot
proteins
pubmed
17676725
uniprot
proteins
pubmed
1787097
uniprot
proteins
pubmed
1814856
uniprot
proteins
pubmed
186485
uniprot
proteins
pubmed
1917530
uniprot
proteins
pubmed
1917537
uniprot
proteins
pubmed
1917539
uniprot
proteins
pubmed
19453576
uniprot
proteins
pubmed
1971109
uniprot
proteins
pubmed
2079435
uniprot
proteins
pubmed
2101840
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2384314
uniprot
proteins
pubmed
2399911
uniprot
proteins
pubmed
24100324
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2513289
uniprot
proteins
pubmed
2581851
uniprot
proteins
pubmed
25946035
uniprot
proteins
pubmed
2599880
uniprot
proteins
pubmed
2599881
uniprot
proteins
pubmed
26209877
uniprot
proteins
pubmed
2634671
uniprot
proteins
pubmed
28066926
uniprot
proteins
pubmed
3384707
uniprot
proteins
pubmed
3384708
uniprot
proteins
pubmed
3384709
uniprot
proteins
pubmed
3384710
uniprot
proteins
pubmed
3557994
uniprot
proteins
pubmed
3623975
uniprot
proteins
pubmed
3654265
uniprot
proteins
pubmed
3666141
uniprot
proteins
pubmed
3691763
uniprot
proteins
pubmed
3707969
uniprot
proteins
pubmed
3718478
uniprot
proteins
pubmed
3744871
uniprot
proteins
pubmed
3754244
uniprot
proteins
pubmed
3838976
uniprot
proteins
pubmed
3937824
uniprot
proteins
pubmed
4123689
uniprot
proteins
pubmed
4129558
uniprot
proteins
pubmed
429365
uniprot
proteins
pubmed
4531009
uniprot
proteins
pubmed
4555506
uniprot
proteins
pubmed
4639022
uniprot
proteins
pubmed
4850241
uniprot
proteins
pubmed
4852224
uniprot
proteins
pubmed
5919752
uniprot
proteins
pubmed
6166590
uniprot
proteins
pubmed
6166632
uniprot
proteins
pubmed
6254664
uniprot
proteins
pubmed
6259091
uniprot
proteins
pubmed
635569
uniprot
proteins
pubmed
6434492
uniprot
proteins
pubmed
6526653
uniprot
proteins
pubmed
6539334
uniprot
proteins
pubmed
6618888
uniprot
proteins
pubmed
6629822
uniprot
proteins
pubmed
6629823
uniprot
proteins
pubmed
6629824
uniprot
proteins
pubmed
6687721
uniprot
proteins
pubmed
668922
uniprot
proteins
pubmed
6726807
uniprot
proteins
pubmed
6857757
uniprot
proteins
pubmed
7161106
uniprot
proteins
pubmed
7173395
uniprot
proteins
pubmed
721609
uniprot
proteins
pubmed
7238856
uniprot
proteins
pubmed
7338468
uniprot
proteins
pubmed
7338469
uniprot
proteins
pubmed
7358733
uniprot
proteins
pubmed
7373648
uniprot
proteins
pubmed
7693620
uniprot
proteins
pubmed
8111050
uniprot
proteins
pubmed
8144352
uniprot
proteins
pubmed
826083
uniprot
proteins
pubmed
8280608
uniprot
proteins
pubmed
8330972
uniprot
proteins
pubmed
8330974
uniprot
proteins
pubmed
8330979
uniprot
proteins
pubmed
8377203
uniprot
proteins
pubmed
8401300
uniprot
proteins
pubmed
8522332
uniprot
proteins
pubmed
8602627
uniprot
proteins
pubmed
8637569
uniprot
proteins
pubmed
8641705
uniprot
proteins
pubmed
8642597
uniprot
proteins
pubmed
8704193
uniprot
proteins
pubmed
8718692
uniprot
proteins
pubmed
8745430
uniprot
proteins
pubmed
8811317
uniprot
proteins
pubmed
891976
uniprot
proteins
pubmed
893142
uniprot
proteins
pubmed
9521756
uniprot
proteins
pubmed
9761252
uniprot
proteins
pubmed
9830011
uniprot
proteins
pubmed
9843411
uniprot
proteins
pubmed
992050
uniprot
proteins
sequence_length
147
uniprot
proteins