HBA1 cDNA ORF clone, Homo sapiens(human)
| Gene Symbol | HBA1 |
| Entrez Gene ID | 3039 |
| Full Name | hemoglobin subunit alpha 1 |
| Synonyms | HBA-T3,HBH |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Thalassemias, alpha-, 604131 (3); Methemoglobinemias, alpha- (3); Erythremias, alpha- (3); Heinz body anemias, alpha-, 140700 (3); Hemoglobin H disease, nondeletional, 613978 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_000558.4 | NP_000549.1 | hemoglobin subunit alpha |
| NM_000558.5 | NP_000549.1 | hemoglobin subunit alpha |
| HBA2 | NP_001038189.1 | |
| Homo sapiens (human) | HBA2 | NP_000508.1 |
| Canis lupus familiaris (dog) | LOC100855540 | NP_001257815.1 |
| Mus musculus (house mouse) | Hba-a2 | NP_001077424.1 |
| Gallus gallus (chicken) | LOC100858011 | XP_004949966.1 |
| Xenopus tropicalis (tropical clawed frog) | hba1 | NP_988860.1 |
| HBA2 | XP_001094404.1 | |
| Canis lupus familiaris (dog) | LOC100855558 | NP_001257814.1 |
| Bos taurus (cattle) | HBA | NP_001070890.2 |
| Bos taurus (cattle) | HBA1 | XP_003585623.1 |
| Homo sapiens (human) | HBA1 | NP_000549.1 |
| Gallus gallus (chicken) | HBAA | NP_001004376.1 |
| Mus musculus (house mouse) | Hba-a1 | NP_032244.2 |
| Rattus norvegicus (Norway rat) | LOC287167 | NP_001013875.1 |
Related articles in PubMed
Direct observation of conformational population shifts in crystalline human hemoglobin.
Shibayama N, Ohki M, Tame JRH, Park SY
The Journal of biological chemistry292(44)18258-18269(2017 11)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
Data suggest that, in crystal form of Hb containing three protein molecules--Hbalpha(1)beta(2), allosteric effectors (phosphate, bezafibrate) induce conformational changes in direction from relaxed-state to tense-state; binding of each effector energetically stabilizes lowest affinity conformer more strongly than intermediate affinity conformer; minor Hb conformers have disproportionate effects on overall O(2) affinity.
Title: Direct observation of conformational population shifts in crystalline human hemoglobin.
genome-wide association meta-analyses in individuals from 82 cohorts of European, African, East Asian and South Asian ancestry; identified 60 common genetic variants associated with HbA1c; 19 glycemic (GS-G) and 22 erythrocytic (GS-E) variants were associated with HbA1c at genome-wide significance; GS-G was associated with higher type 2 diabetes risk; GS-E was not
Title: Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.
Dynamical differences of hemoglobin and the ionotropic glutamate receptor in different states have been revealed by a new dynamics alignment method.
Title: Dynamical differences of hemoglobin and the ionotropic glutamate receptor in different states revealed by a new dynamics alignment method.
The studies suggest that impaired endocytosis of megalin/cubilin ligands, hemoglobin and albumin, rather than heme toxicity, may be the cause of tubular proteinuria in sickle cell disease patients.
Title: Hemoglobin inhibits albumin uptake by proximal tubule cells: implications for sickle cell disease.
Report association between HbA1c levels in diabetes mellitus type 2 in relation to the development of heart failure.
Title: Contemporary risk estimates of three HbA
The following HBA1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the HBA1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
| CloneID | OHu23534 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_000558.4 , NM_000558.5 | |
| Accession Version | NM_000558.4 | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 429bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector |  User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-12-05 | |
| Organism | Homo sapiens(human) | |
| Product | hemoglobin subunit alpha | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from Z84721.1, BC101846.1 and AI064720.1. This sequence is a reference standard in the RefSeqGene project. On Aug 9, 2014 this sequence version replaced NM_000558.3. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC005931.1, CB994937.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length. | |
1 | ATGGTGCTGT CTCCTGCCGA CAAGACCAAC GTCAAGGCCG CCTGGGGTAA GGTCGGCGCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_000549.1 |
| CDS | 67..495 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_000558.4 |
ORF Insert Sequence:
1 | ATGGTGCTGT CTCCTGCCGA CAAGACCAAC GTCAAGGCCG CCTGGGGTAA GGTCGGCGCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu23534 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_000558.4 , NM_000558.5 | |
| Accession Version | NM_000558.5 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 429bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-12-03 | |
| Organism | Homo sapiens(human) | |
| Product | hemoglobin subunit alpha | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC005931.1. This sequence is a reference standard in the RefSeqGene project. On Aug 3, 2018 this sequence version replaced NM_000558.4. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC005931.1, AK223392.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000320868.9/ ENSP00000322421.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length. | |
1 | ATGGTGCTGT CTCCTGCCGA CAAGACCAAC GTCAAGGCCG CCTGGGGTAA GGTCGGCGCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_000549.1 |
| CDS | 38..466 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_000558.5 |
ORF Insert Sequence:
1 | ATGGTGCTGT CTCCTGCCGA CAAGACCAAC GTCAAGGCCG CCTGGGGTAA GGTCGGCGCG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
Direct observation of conformational population shifts in crystalline human hemoglobin. |