Gene
hbaa1
- ID
- ZDB-GENE-980526-79
- Name
- hemoglobin, alpha adult 1
- Symbol
- hbaa1 Nomenclature History
- Previous Names
-
- AA1
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to contribute to haptoglobin binding activity and peroxidase activity. Involved in response to hypoxia. Predicted to localize to haptoglobin-hemoglobin complex and hemoglobin complex. Human ortholog(s) of this gene implicated in Heinz body anemia; alpha thalassemia; familial erythrocytosis 7; and hemoglobin H disease. Is expressed in eye; hematopoietic system; presumptive blood; and vasculature. Orthologous to several human genes including HBZ (hemoglobin subunit zeta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 31 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55446 (3 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
alpha thalassemia | Alliance | Thalassemias, alpha- | 604131 |
familial erythrocytosis 7 | Alliance | Erythrocytosis, familial, 7 | 617981 |
Heinz body anemia | Alliance | Heinz body anemias, alpha- | 140700 |
hemoglobin H disease | Alliance | Hemoglobin H disease, nondeletional | 613978 |
Methemoglobinemia, alpha type | 617973 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Globin | Globin-like superfamily | Globin/Protoglobin | Hemoglobin, alpha-type | Hemoglobin and related oxygen transporters | Hemoglobin, pi |
---|---|---|---|---|---|---|---|
UniProtKB:Q803Z5
|
143 | ||||||
UniProtKB:Q90487
|
143 | ||||||
UniProtKB:Q1JQ69
|
143 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
hbaa1-201
(1)
|
Havana | 651 nt | |
mRNA | ottdart00000002411 (1) | Havana | 581 nt | |
mRNA | ottdart00000002413 (1) | Havana | 581 nt |
Interactions and Pathways
No data available
Plasmids
No data available