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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]
HBA1 (Hemoglobin Subunit Alpha 1) is a Protein Coding gene. Diseases associated with HBA1 include Hemoglobin H Disease and Alpha-Thalassemia. Among its related pathways are Vesicle-mediated transport and Selenium Micronutrient Network. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBA2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH16J000175 | Promoter | 1.2 | EPDnew Ensembl | 750.6 | -0.1 | -50 | 0.8 | GMEB1 ZBTB8A PRDM10 PKNOX1 PATZ1 SP2 ZNF561 ZBTB20 EZH2 MGA | ENSG00000207243 HBA1 lnc-LUC7L-2 | |
GH16J000172 | Promoter | 0.8 | EPDnew Ensembl | 750.6 | -3.8 | -3750 | 1 | EZH2 | HBA1 HBA2 lnc-LUC7L-2 HBZ | |
GH16J001088 | Enhancer | 1.2 | ENCODE CraniofacialAtlas dbSUPER | 4.7 | +913.7 | 913652 | 3 | CTCF MLX RBPJ POLR2A NR2F6 ZNF148 ELF3 AHR TFE3 PPARG | HBA1 piR-32214-228 C1QTNF8 | |
GH16J000033 | Promoter/Enhancer | 1.3 | FANTOM5 Ensembl ENCODE | 3.2 | -141.3 | -141334 | 1.8 | HLF MNT CEBPG MYC ZNF687 IKZF1 CREB1 CEBPA TARDBP CTBP1 | ENSG00000260803 lnc-POLR3K-3 LUC7L WDR90 WASH4P ENSG00000228779 LMF1 RHOT2 ENSG00000268836 WDR24 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004601 | contributes_to peroxidase activity | IDA | 19740759 |
GO:0005344 | oxygen carrier activity | IBA,IEA | 21873635 |
GO:0005506 | iron ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 1552945 |
GO:0019825 | oxygen binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IDA | 21805676 |
GO:0005829 | cytosol | TAS | -- |
GO:0005833 | hemoglobin complex | TAS,IEA | 7555018 |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Erythrocytes take up carbon dioxide and release oxygen | ||
2 | Selenium Micronutrient Network | ||
3 | Binding and Uptake of Ligands by Scavenger Receptors | ||
4 | African trypanosomiasis | ||
5 | Malaria |
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006898 | receptor-mediated endocytosis | TAS | -- |
GO:0010942 | positive regulation of cell death | IDA | 19740759 |
GO:0015671 | oxygen transport | IEA,TAS | 7518430 |
GO:0015701 | bicarbonate transport | TAS | -- |
GO:0042542 | response to hydrogen peroxide | IDA | 19740759 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Oxygen | Approved, Vet_approved | Pharma | Target | 0 | ||
Iron | Approved, Experimental | Pharma | Target | 1452 | ||
Mefloquine | Approved, Investigational | Pharma | Target, antagonist | 65 | ||
Copper | Approved, Investigational | Pharma | Target | 227 | ||
Ferric pyrophosphate citrate | Approved, Investigational | Pharma | Target, binder | 0 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
cow (Bos Taurus) |
Mammalia | HBA 33 33 32 |
|
ManyToMany | |
mouse (Mus musculus) |
Mammalia | Hba-a2 33 |
|
ManyToMany | |
Hba-a1 33 32 |
|
ManyToMany | |||
dog (Canis familiaris) |
Mammalia | LOC100855558 32 |
|
||
HBA 33 |
|
ManyToMany | |||
-- 33 |
|
ManyToMany | |||
rat (Rattus norvegicus) |
Mammalia | LOC287167 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
ManyToMany | |
-- 33 |
|
ManyToMany | |||
oppossum (Monodelphis domestica) |
Mammalia | HBA 33 |
|
OneToMany | |
chicken (Gallus gallus) |
Aves | LOC100858011 32 |
|
||
HBAA 33 |
|
OneToMany | |||
tropical clawed frog (Silurana tropicalis) |
Amphibia | hba1 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | HBQ1 33 |
|
OneToMany |
SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1060339 | pathogenic, likely-pathogenic, alpha Thalassemia, not provided, - | 177,040(+) | C/A/G | coding_sequence_variant, missense_variant | |
rs1061009 | other, HEMOGLOBIN BUFFALO | 177,103(+) | C/A/G | coding_sequence_variant, missense_variant | |
rs11548605 | other, HEMOGLOBIN J (NYANZA), - | 176,781(+) | C/A/T | coding_sequence_variant, missense_variant | |
rs121913127 | other, HEMOGLOBIN CHICAGO | 177,391(+) | C/A | coding_sequence_variant, missense_variant | |
rs121913128 | other, HEMOGLOBIN KOELLIKER, HEMOGLOBIN F (KOELLIKER) | 177,406(+) | CGT/ | coding_sequence_variant, inframe_deletion |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2690n100 | CNV | gain | 25217958 |
esv2422427 | CNV | duplication | 17116639 |
esv24781 | CNV | loss | 19812545 |
esv2662940 | CNV | deletion | 23128226 |
esv2667554 | CNV | deletion | 23128226 |
esv2676630 | CNV | deletion | 23128226 |
esv3637547 | CNV | loss | 21293372 |
esv3637548 | CNV | loss | 21293372 |
esv3637549 | CNV | loss | 21293372 |
esv3892753 | CNV | loss | 25118596 |
nsv1044142 | CNV | gain | 25217958 |
nsv1698 | CNV | deletion | 18451855 |
nsv433296 | CNV | loss | 18776910 |
nsv518291 | CNV | loss | 19592680 |
nsv519528 | CNV | loss | 19592680 |
nsv570940 | CNV | loss | 21841781 |
nsv827473 | CNV | gain | 20364138 |
nsv977099 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hemoglobin h disease |
|
|
alpha-thalassemia |
|
|
erythrocytosis, familial, 7 |
|
|
methemoglobinemia, alpha type |
|
|
heinz body anemias |
|