Free for academic non-profit institutions. Other users need a Commercial license
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 Folate Metabolism and Effects of Nitric Oxide. 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 | 600.7 | -0.1 | -79 | 0.8 | PRDM10 PKNOX1 PATZ1 EZH2 ZNF561 MGA ZBTB20 SP2 POLR2A ZBTB26 | ENSG00000207243 HBA1 HBA2 lnc-LUC7L-2 | |
GH16J000172 | Promoter | 0.8 | EPDnew Ensembl | 600.7 | -3.8 | -3779 | 1 | EZH2 | HBA1 HBA2 lnc-LUC7L-2 HBZ | |
GH16J001088 | Enhancer | 1.2 | ENCODE CraniofacialAtlas dbSUPER | 4.7 | +913.6 | 913623 | 3 | HNRNPL GATAD2A ZNF629 TFE3 NFKBIZ CTCF ZIC2 RBFOX2 RXRB IRF2 | HBA1 piR-32214-228 C1QTNF8 SSTR5 | |
GH16J000033 | Promoter/Enhancer | 1.3 | FANTOM5 Ensembl ENCODE | 3.2 | -141.4 | -141363 | 1.8 | CEBPG CREB1 ATF7 TARDBP ZSCAN4 ZNF501 POLR2A ZNF311 CEBPA SCRT2 | ENSG00000260803 LUC7L ENSG00000228779 LMF1 IL9RP3 ENSG00000262528 WDR90 SNRNP25 LINC02867 METTL26 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004601 | contributes_to peroxidase activity | IDA | 19740759 |
GO:0005344 | oxygen carrier activity | IEA,IBA | 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 | IEA,TAS | 7555018 |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | O2/CO2 exchange in erythrocytes | ||
2 | Folate Metabolism | ||
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 | Carrier, binder | 0 | ||
Iron | Approved, Experimental | Pharma | Target | 1560 | ||
Copper | Approved, Investigational | Pharma | Target | 249 | ||
Ferric derisomaltose | Approved | Pharma | Target, binder | 0 | ||
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 30 31 31 |
|
ManyToMany | |
Mouse (Mus musculus) |
Mammalia | Hba-a2 31 |
|
ManyToMany | |
Hba-a1 30 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | LOC100855558 30 |
|
||
HBA 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | LOC287167 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | HBA 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | HBAA 30 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hba1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | HBQ1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
15808 | Other: HEMOGLOBIN SAVARIA | 173,179(+) | C/A | MISSENSE_VARIANT | |
788899 | Likely Benign: not provided | 177,083(+) | C/T | SYNONYMOUS_VARIANT | |
801162 | Uncertain Significance: not provided | 176,979(+) | T/C | MISSENSE_VARIANT | |
801163 | Uncertain Significance: not provided | 177,055(+) | GGAC/G | INFRAME_DELETION | |
801164 | Likely Benign: not provided | 177,317(+) | C/T | MISSENSE_VARIANT |
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 |
|