HBA1 (hemoglobin subunit alpha 1)

2008-12-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
ECYT7,HBA-T3,HBH,METHBA
FUSION GENES

Other Information

Locus ID:

NCBI: 3039
MIM: 141800
HGNC: 4823
Ensembl: ENSG00000206172

Variants:

dbSNP: 3039
ClinVar: 3039
TCGA: ENSG00000206172
COSMIC: HBA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000206172ENST00000320868P69905
ENSG00000206172ENST00000320868D1MGQ2
ENSG00000206172ENST00000397797G3V1N2

Expression (GTEx)

0
5000
10000
15000
20000

Pathways

PathwaySourceExternal ID
MalariaKEGGko05144
MalariaKEGGhsa05144
African trypanosomiasisKEGGko05143
African trypanosomiasisKEGGhsa05143
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging of heme from plasmaREACTOMER-HSA-2168880
MetabolismREACTOMER-HSA-1430728
O2/CO2 exchange in erythrocytesREACTOMER-HSA-1480926
Erythrocytes take up carbon dioxide and release oxygenREACTOMER-HSA-1237044
Erythrocytes take up oxygen and release carbon dioxideREACTOMER-HSA-1247673

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
186949982008Red cell life span heterogeneity in hematologically normal people is sufficient to alter HbA1c.103
231238582012Endothelial cell expression of haemoglobin α regulates nitric oxide signalling.91
182152512008Multiplicity of Plasmodium falciparum infection in asymptomatic children in Senegal: relation to transmission, age and erythrocyte variants.79
158243132005Hemoglobin conformation couples erythrocyte S-nitrosothiol content to O2 gradients.76
239005892013HbA1c and risk of severe hypoglycemia in type 2 diabetes: the Diabetes and Aging Study.64
288982522017Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.64
125256872003Quaternary structure of hemoglobin in solution.63
122000732002High and low hemoglobin glycation phenotypes in type 1 diabetes: a challenge for interpretation of glycemic control.50
190965182008Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.48
266439522016Epigenome-wide association study identifies TXNIP gene associated with type 2 diabetes mellitus and sustained hyperglycemia.45

Citation

Dessen P

HBA1 (hemoglobin subunit alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50605/hba1