Gene Report

Approved Symbol	HBA1
Approved Name	hemoglobin, alpha 1
Location	16p13.3
Position	chr16:226679-227520 (+)
External Links	Entrez Gene: 3039 Ensembl: ENSG00000206172 UCSC: uc002cfx.1 HGNC ID: 4823
No. of Studies (Positive/Negative)	1(1/0)
Type	Literature-origin

Name in Literature	Reference	Research Type	Statistical Result	Relation Description
HBA1	Chu TT, 2009	Patients and nomal controls		Up regulation, fold change([MD] vs [C]) 2.9828923 Up regulation, fold change([MD] vs [C]) 2.9828923

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Note:
1. The different color of the nodes denotes the level of the nodes.

Genetic/Epigenetic Locus	Protein and Other Molecule	Cell and Molecular Pathway	Neural System	Cognition and Behavior	Symptoms and Signs	Environment	MDD

2. Besides the component related relationships from literature, gene mapped protein and protein mapped gene are also shown in the network. If the mapped gene or protein is not from literature, square node would be used instead of Circle node. Accordingly, the relationship is marked with dot line.
2. User can drag the nodes to rearrange the layout of the network. Click the node will enter the report page of the node. Right-click will show also the menus to link to the report page of the node and remove the node and related edges. Hover the node will show the level of the node and hover the edge will show the evidence/description of the edge.
3. The network is generated using Cytoscape Web

Approved Name	UniportKB	No. of Studies (Positive/Negative)	Source
Hemoglobin subunit alpha	P69905	0(0/0)	Gene mapped

Gene mapped BioCarta pathways
ID	Name	Brief Description	Full Description
AHSP_PATHWAY	ahsp pathway	Hemoglobin's Chaperone	The function of hemoglobin in oxygen transport by red blood ...... The function of hemoglobin in oxygen transport by red blood cells requires precise assembly of a tetramer of two beta-subunits and two alpha-units. If too many beta-subunits are present, then all tetramers of beta-subunits are formed that bind oxygen but do not release it when needed. When alpha-subunits are in excess they form precipitates with oxidized heme that damage red blood cells. Red blood cells require a precise coregulation of alpha and beta subunit expression to maintain the proper ratio of the subunits and normal red blood cell function. Generally red blood cells express slightly more alpha than beta-subunits to avoid forming unproductive beta-tetramers (HbH). The slight excess of alpha units are blocked from precipitation by a molecular chaperone, AHSP, alpha-hemoglobin stabilizing protein. Expression of the AHSP gene is coordinately activated with the globin genes and heme biosynthesis genes by the GATA-1 gene involved in erythrocyte differentiation. AHSP blocks precipitation of alpha-units, and promotes the formation of normal productive alpha-beta tetramers (HbA). People with mutation or deletion of the beta-subunit gene have Beta-thalassemias resulting from an over-abundance of alpha subunits and their precipitation. The severity of the phenotype may depend on the AHSP genotype of these individuals and elevating AHSP levels through gene therapy may provide a treatment strategy for beta-thalassemia. More...

Gene	Interactor	Interactor in MK4MDD?	Experiment Type	PMID
HBA1	HBB	No	yeast 2-hybrid	16169070
HBA1	ATP6AP1	No	yeast 2-hybrid	16169070
HBA1	NAP1L1	No	yeast 2-hybrid	16169070
HBA1	PTEN	No	yeast 2-hybrid	16169070