InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HBA1

Summary

InnateDB Protein

IDBP-7129.6

Last Modified

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

Gene Symbol

HBA1

Protein Name

hemoglobin, alpha 1

Synonyms

HBA-T2; HBA-T3; HBH;

Species

Homo sapiens

Ensembl Protein

ENSP00000322421

InnateDB Gene

IDBG-7127 (HBA1)

Protein Structure

UniProt Annotation

Function

Involved in oxygen transport from the lung to the various peripheral tissues.

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:2833478}. Note=The disease may be caused by mutations affecting the gene represented in this entry.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 mutations affecting the gene represented in this entry.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.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:0000269PubMed:10569720}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Red blood cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	20 [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:0031720	haptoglobin binding

Biological Process

GO:0010942	positive regulation of cell death
GO:0015671	oxygen transport
GO:0015701	bicarbonate transport
GO:0042542	response to hydrogen peroxide
GO:0042744	hydrogen peroxide catabolic process
GO:0044281	small molecule metabolic process
GO:0051291	protein heterooligomerization
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005576	extracellular region
GO:0005829	cytosol
GO:0005833	hemoglobin complex
GO:0016020	membrane
GO:0022627	cytosolic small ribosomal subunit
GO:0031838	haptoglobin-hemoglobin complex
GO:0070062	extracellular vesicular exosome
GO:0071682	endocytic vesicle lumen
GO:0072562	blood microparticle