HBA1 (hemoglobin subunit alpha 1)

2008-12-01  

Identity

HGNC
HBA1
LOCATION
16p13.3
LOCUSID
3039
ALIAS
ECYT7,HBA-T3,HBH,METHBA
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
386329782024A New α1-Globin Variant, Hb Ormylia [HBA1:c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece.0
386329782024A New α1-Globin Variant, Hb Ormylia [HBA1:c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece.0
366552402023[Value of glycosylated hemoglobin A1c and apolipoprotein A-1 ratio on predicting outcome of patients with acute coronary syndrome].0
366742742023Glutathione S-Transferase P1 Genetic Variant's Influence on the HbA1c Level in Type Two Diabetic Patients.0
378186382023Two Novel α-Thalassemia Mutations CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro] Identified in Two Chinese Families: A Case Report.0
366552402023[Value of glycosylated hemoglobin A1c and apolipoprotein A-1 ratio on predicting outcome of patients with acute coronary syndrome].0
366742742023Glutathione S-Transferase P1 Genetic Variant's Influence on the HbA1c Level in Type Two Diabetic Patients.0
378186382023Two Novel α-Thalassemia Mutations CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro] Identified in Two Chinese Families: A Case Report.0
348500062022Continuous Glucose Monitoring and HbA1c in Cystic Fibrosis: Clinical Correlations and Implications for CFRD Diagnosis.12
349887822022Relationship between hemoglobin A1C and characteristics of plaque vulnerability in stable coronary disease: an optical coherence tomography study.3
350524722022Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin.1
352531212022Differences in Hemoglobin A1c during Pregnancy between Non-Hispanic Black versus White Women with Prepregnancy Diabetes.4
358595092022Dental caries and their relation to hba1c in adults with type 2 diabetes mellitus.0
360575572022HbA1c at term delivery and adverse pregnancy outcome.4
361174082022Decreased expression of HBA1 and HBB genes in acute myeloid leukemia patients and their inhibitory effects on growth of K562 cells.3

Citation

Dessen P

HBA1 (hemoglobin subunit alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

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