P69905
uniprot
P69905
canonical
amino_acid_sequence
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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:2833478}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Alpha-thalassemia (A-THAL) [MIM:604131]: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha-globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non-deletional alpha-thalassemia). Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Alpha(0)-thalassemia is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.; DISEASE: Hemoglobin H disease (HBH) [MIM:613978]: A form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence. {ECO:0000269|PubMed:10569720}. 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.; FUNCTION: [Hemopressin]: Hemopressin acts as an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343). Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling (PubMed:18077343). {ECO:0000269|PubMed:18077343}.
uniprot
proteins
mass_dalton
15258
uniprot
proteins
post_translational_modification
PTM: The initiator Met is not cleaved in variant Thionville and is acetylated.
uniprot
proteins
protein_family
Globin family
uniprot
proteins
pubmed
10206681
uniprot
proteins
pubmed
10569720
uniprot
proteins
pubmed
10569723
uniprot
proteins
pubmed
108887
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
1115799
uniprot
proteins
pubmed
11402454
uniprot
proteins
pubmed
11410421
uniprot
proteins
pubmed
1177322
uniprot
proteins
pubmed
1182166
uniprot
proteins
pubmed
12552433
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
13872627
uniprot
proteins
pubmed
1390940
uniprot
proteins
pubmed
1390944
uniprot
proteins
pubmed
13954546
uniprot
proteins
pubmed
14093912
uniprot
proteins
pubmed
1428941
uniprot
proteins
pubmed
1428950
uniprot
proteins
pubmed
1428951
uniprot
proteins
pubmed
14576901
uniprot
proteins
pubmed
1511986
uniprot
proteins
pubmed
1512262
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15495251
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
15921163
uniprot
proteins
pubmed
1618774
uniprot
proteins
pubmed
1634355
uniprot
proteins
pubmed
1634357
uniprot
proteins
pubmed
1634363
uniprot
proteins
pubmed
16728641
uniprot
proteins
pubmed
1686260
uniprot
proteins
pubmed
1802882
uniprot
proteins
pubmed
18077343
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
2079430
uniprot
proteins
pubmed
2079432
uniprot
proteins
pubmed
20980
uniprot
proteins
pubmed
2101836
uniprot
proteins
pubmed
2108715
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2599879
uniprot
proteins
pubmed
2606724
uniprot
proteins
pubmed
2634665
uniprot
proteins
pubmed
2634669
uniprot
proteins
pubmed
2752146
uniprot
proteins
pubmed
2833478
uniprot
proteins
pubmed
29109153
uniprot
proteins
pubmed
3142772
uniprot
proteins
pubmed
3654264
uniprot
proteins
pubmed
3754246
uniprot
proteins
pubmed
3973024
uniprot
proteins
pubmed
4212045
uniprot
proteins
pubmed
4521212
uniprot
proteins
pubmed
4528583
uniprot
proteins
pubmed
4667378
uniprot
proteins
pubmed
4744335
uniprot
proteins
pubmed
478975
uniprot
proteins
pubmed
478977
uniprot
proteins
pubmed
4824923
uniprot
proteins
pubmed
486536
uniprot
proteins
pubmed
5033650
uniprot
proteins
pubmed
5085669
uniprot
proteins
pubmed
5091982
uniprot
proteins
pubmed
5115619
uniprot
proteins
pubmed
5288820
uniprot
proteins
pubmed
5440849
uniprot
proteins
pubmed
5780195
uniprot
proteins
pubmed
5988206
uniprot
proteins
pubmed
6188720
uniprot
proteins
pubmed
6244294
uniprot
proteins
pubmed
6452630
uniprot
proteins
pubmed
6526652
uniprot
proteins
pubmed
6547117
uniprot
proteins
pubmed
6547932
uniprot
proteins
pubmed
6714429
uniprot
proteins
pubmed
6725558
uniprot
proteins
pubmed
6815131
uniprot
proteins
pubmed
6874376
uniprot
proteins
pubmed
6874377
uniprot
proteins
pubmed
6882779
uniprot
proteins
pubmed
6946451
uniprot
proteins
pubmed
7068434
uniprot
proteins
pubmed
7068437
uniprot
proteins
pubmed
7161109
uniprot
proteins
pubmed
7213661
uniprot
proteins
pubmed
7238857
uniprot
proteins
pubmed
7275660
uniprot
proteins
pubmed
7358733
uniprot
proteins
pubmed
7373648
uniprot
proteins
pubmed
7410435
uniprot
proteins
pubmed
7435503
uniprot
proteins
pubmed
7448866
uniprot
proteins
pubmed
7462179
uniprot
proteins
pubmed
7470621
uniprot
proteins
pubmed
7558876
uniprot
proteins
pubmed
7713747
uniprot
proteins
pubmed
7786798
uniprot
proteins
pubmed
8148419
uniprot
proteins
pubmed
8195005
uniprot
proteins
pubmed
8237999
uniprot
proteins
pubmed
8294199
uniprot
proteins
pubmed
8294200
uniprot
proteins
pubmed
8448109
uniprot
proteins
pubmed
8493987
uniprot
proteins
pubmed
849454
uniprot
proteins
pubmed
8745434
uniprot
proteins
pubmed
8798486
uniprot
proteins
pubmed
902765
uniprot
proteins
pubmed
9322075
uniprot
proteins
pubmed
9452028
uniprot
proteins
pubmed
9494044
uniprot
proteins
pubmed
9665850
uniprot
proteins
sequence_length
142
uniprot
proteins