Sequence in raw or FASTA format:
HBA1 hemoglobin, alpha 1 [Homo sapiens (human)]
|Entrez Gene ID||3039|
|Full Name||hemoglobin, alpha 1|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008].|
Thalassemias, alpha-, 604131 (3); Methemoglobinemias, alpha- (3);
|REACT_121329||Erythrocytes take up carbon dioxide and release oxygen|
|REACT_120969||O2/CO2 exchange in erythrocytes|
|REACT_121380||Erythrocytes take up oxygen and release carbon dioxide|
|REACT_160300||Binding and Uptake of Ligands by Scavenger Receptors|
|REACT_160163||Scavenging of heme from plasma|
|Homo sapiens (human)||HBA2||NP_000508.1|
|Homo sapiens (human)||HBA1||NP_000549.1|
|Macaca mulatta (Rhesus monkey)||HBA2||NP_001038189.1|
|Macaca mulatta (Rhesus monkey)||HBA2||XP_001094404.1|
|Canis lupus familiaris (dog)||LOC100855558||NP_001257814.1|
|Canis lupus familiaris (dog)||LOC100855540||NP_001257815.1|
|Bos taurus (cattle)||HBA||NP_001070890.2|
|Bos taurus (cattle)||HBA1||XP_003585623.1|
|Mus musculus (house mouse)||Hba-a2||NP_001077424.1|
|Mus musculus (house mouse)||Hba-a1||NP_032244.2|
|Rattus norvegicus (Norway rat)||LOC287167||NP_001013875.1|
|Gallus gallus (chicken)||HBAA||NP_001004376.1|
|Gallus gallus (chicken)||LOC100858011||XP_004949966.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||hba1||NP_988860.1|
What is the normal function of the HBA1 gene?
The HBA1 gene provides instructions for making a protein called alpha-globin. This protein is also produced from a nearly identical gene called HBA2. These two alpha-globin genes are located close together in a region of chromosome 16 known as the alpha-globin locus.
Alpha-globin is a component (subunit) of a larger protein called hemoglobin, which is the protein in red blood cells that carries oxygen to cells and tissues throughout the body. Hemoglobin is made up of four subunits: two subunits of alpha-globin and two subunits of another type of globin. Alpha-globin is a component of both fetal hemoglobin, which is active only before birth and in the newborn period, and adult hemoglobin, which is active throughout the rest of life.
Each of the four protein subunits of hemoglobin carries an iron-containing molecule called heme. Heme molecules are necessary for red blood cells to pick up oxygen in the lungs and deliver it to the body's tissues. A complete hemoglobin protein is capable of carrying four oxygen molecules at a time (one attached to each heme molecule). Oxygen attached to hemoglobin gives blood its bright red color.
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