HBA1 hemoglobin subunit alpha 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HBA1provided by HGNC
Official Full Name: hemoglobin subunit alpha 1provided by HGNC
Primary source: HGNC:HGNC:4823
See related: Ensembl:ENSG00000206172 MIM:141800; AllianceGenome:HGNC:4823
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HBH; ECYT7; HBA-T3; METHBA
Summary: 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]
Annotation information: Note: We are aware that there is inconsistency among GenBank, RefSeq, and other browsers about the gene order in the alpha globin cluster. According to review by staff at HbVar (http://globin.bx.psu.edu/hbvar/menu.html), the gene order, telomere to centromere, for these loci is ...HBZ(HBZ2)..HBZP(HBZ1)..HBA2..HBA1... [13 Feb 2013]
Orthologs: all
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Genomic context

Location:: 16p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (176680..177522)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (170722..171564)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (226679..227521)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Two Novel alpha-Thalassemia Mutations CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro] Identified in Two Chinese Families: A Case Report.
Title: Two Novel α-Thalassemia Mutations CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro] Identified in Two Chinese Families: A Case Report.
Glutathione S-Transferase P1 Genetic Variant's Influence on the HbA1c Level in Type Two Diabetic Patients.
Title: Glutathione S-Transferase P1 Genetic Variant's Influence on the HbA1c Level in Type Two Diabetic Patients.
[Value of glycosylated hemoglobin A1c and apolipoprotein A-1 ratio on predicting outcome of patients with acute coronary syndrome].
Title: [Value of glycosylated hemoglobin A1c and apolipoprotein A-1 ratio on predicting outcome of patients with acute coronary syndrome].
Distinct pattern and prevalence of Plasmodium falciparum dihydropteroate synthase gene mutations in children with sickle cell anaemia and haemoglobin AA in Benin City, Nigeria: the impact of HbAA.
Title: Distinct pattern and prevalence of Plasmodium falciparum dihydropteroate synthase gene mutations in children with sickle cell anaemia and haemoglobin AA in Benin City, Nigeria: the impact of HbAA.
Decreased expression of HBA1 and HBB genes in acute myeloid leukemia patients and their inhibitory effects on growth of K562 cells.
Title: Decreased expression of HBA1 and HBB genes in acute myeloid leukemia patients and their inhibitory effects on growth of K562 cells.
Differences in Hemoglobin A1c during Pregnancy between Non-Hispanic Black versus White Women with Prepregnancy Diabetes.
Title: Differences in Hemoglobin A1c during Pregnancy between Non-Hispanic Black versus White Women with Prepregnancy Diabetes.
HbA1c at term delivery and adverse pregnancy outcome.
Title: HbA1c at term delivery and adverse pregnancy outcome.
Dental caries and their relation to hba1c in adults with type 2 diabetes mellitus.
Title: Dental caries and their relation to hba1c in adults with type 2 diabetes mellitus.
Continuous Glucose Monitoring and HbA1c in Cystic Fibrosis: Clinical Correlations and Implications for CFRD Diagnosis.
Title: Continuous Glucose Monitoring and HbA1c in Cystic Fibrosis: Clinical Correlations and Implications for CFRD Diagnosis.
Relationship between hemoglobin A1C and characteristics of plaque vulnerability in stable coronary disease: an optical coherence tomography study.
Title: Relationship between hemoglobin A1C and characteristics of plaque vulnerability in stable coronary disease: an optical coherence tomography study.

Submit: New GeneRIF Correction See all GeneRIFs (290)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
alpha Thalassemia MedGen: C0002312 OMIM: 604131 GeneReviews: Alpha-Thalassemia	Compare labs
Erythrocytosis, familial, 7 MedGen: C4693823 OMIM: 617981 GeneReviews: Not available	Compare labs
Heinz body anemia MedGen: C0700299 OMIM: 140700 GeneReviews: Not available	Compare labs
Hemoglobin H disease MedGen: C3161174 OMIM: 613978 GeneReviews: Not available	Compare labs
Methemoglobinemia, alpha type MedGen: C4693798 OMIM: 617973 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD20616 (e-PCR)
- UniSTS:301615

RH71405 (e-PCR)
- UniSTS:10346

ECD13499 (e-PCR)
- UniSTS:294528

ECD10932 (e-PCR)
- UniSTS:291969

ECD06858 (e-PCR)
- UniSTS:287916

REN94963 (e-PCR)
- UniSTS:419761

REN94964 (e-PCR)
- UniSTS:419762

REN94965 (e-PCR)
- UniSTS:419763

REN94966 (e-PCR)
- UniSTS:419764

stSG608924 (e-PCR)
- UniSTS:448436

ECD08414 (e-PCR)
- UniSTS:289462

REN94970 (e-PCR)
- UniSTS:419768

REN94971 (e-PCR)
- UniSTS:419769

REN94972 (e-PCR)
- UniSTS:419770

REN94973 (e-PCR)
- UniSTS:419771

REN94974 (e-PCR)
- UniSTS:419772

REN94975 (e-PCR)
- UniSTS:419773

REN94976 (e-PCR)
- UniSTS:419774

ECD01232 (e-PCR)
- UniSTS:282339

NoName (e-PCR)
- UniSTS:486125

HBA2 (e-PCR)
- UniSTS:480249

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to haptoglobin binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to haptoglobin binding	IDA Inferred from Direct Assay more info	PubMed
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables organic acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen carrier activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to peroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to peroxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carbon dioxide transport	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hydrogen peroxide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nitric oxide transport	IDA Inferred from Direct Assay more info	PubMed
involved_in oxygen transport	IDA Inferred from Direct Assay more info	PubMed
involved_in oxygen transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oxygen transport	NAS Non-traceable Author Statement more info	PubMed
involved_in oxygen transport	TAS Traceable Author Statement more info	PubMed
involved_in response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endocytic vesicle lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of haptoglobin-hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of haptoglobin-hemoglobin complex	IDA Inferred from Direct Assay more info	PubMed
part_of hemoglobin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of hemoglobin complex	IDA Inferred from Direct Assay more info	PubMed
part_of hemoglobin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of hemoglobin complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: hemoglobin subunit alpha

Names: alpha globin chain; alpha one globin; alpha-2 globin chain; delta globin; hemoglobin alpha 1 globin chain; hemoglobin, alpha 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.