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Aliases for HBA1 Gene

Aliases for HBA1 Gene

  • Hemoglobin, Alpha 1 2 3
  • HBH 3 6
  • Hemoglobin Alpha 1 Globin Chain 3
  • Hemoglobin Subunit Alpha 3
  • Hemoglobin Alpha Chain 4
  • Alpha-2 Globin Chain 3
  • Alpha One Globin 3
  • Alpha-Globin 4
  • Delta Globin 3
  • HBA1 HBA2 4
  • HBA-T3 3

External Ids for HBA1 Gene

Summaries for HBA1 Gene

Entrez Gene Summary for HBA1 Gene

  • 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]

GeneCards Summary for HBA1 Gene

HBA1 (Hemoglobin, Alpha 1) is a Protein Coding gene. Diseases associated with HBA1 include vascular cancer and heinz body anemia. Among its related pathways are Metabolism and Selenium Pathway. An important paralog of this gene is HBA2.

UniProtKB/Swiss-Prot for HBA1 Gene

  • Involved in oxygen transport from the lung to the various peripheral tissues

Gene Wiki entry for HBA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBA1 Gene

Genomics for HBA1 Gene

Genomic Location for HBA1 Gene

176,680 bp from pter
177,522 bp from pter
843 bases
Plus strand

Genomic View for HBA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HBA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBA1 Gene

Regulatory Elements for HBA1 Gene

Proteins for HBA1 Gene

  • Protein details for HBA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Hemoglobin subunit alpha
    Protein Accession:
    Secondary Accessions:
    • P01922
    • Q1HDT5
    • Q3MIF5
    • Q53F97
    • Q96KF1
    • Q9NYR7
    • Q9UCM0

    Protein attributes for HBA1 Gene

    142 amino acids
    Molecular mass:
    15258 Da
    Quaternary structure:
    • Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA); two alpha chains and two delta chains in adult hemoglobin A2 (HbA2); two alpha chains and two epsilon chains in early embryonic hemoglobin Gower-2; two alpha chains and two gamma chains in fetal hemoglobin F (HbF)
    • Gives blood its red color
    • Sequence=BAD97112.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HBA1 Gene

neXtProt entry for HBA1 Gene

Proteomics data for HBA1 Gene at MOPED

Post-translational modifications for HBA1 Gene

  • The initiator Met is not cleaved in variant Thionville and is acetylated
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Lys8, Lys17, Lys41, and Lys62

Other Protein References for HBA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HBA1 Gene

Domains for HBA1 Gene

Protein Domains for HBA1 Gene


  • Belongs to the globin family.:
    • P69905
genes like me logo Genes that share domains with HBA1: view

No data available for Gene Families for HBA1 Gene

Function for HBA1 Gene

Molecular function for HBA1 Gene

GENATLAS Biochemistry: hemoglobin,alpha 1,adult
UniProtKB/Swiss-Prot Function: Involved in oxygen transport from the lung to the various peripheral tissues

Gene Ontology (GO) - Molecular Function for HBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004601 contributes_to peroxidase activity IDA 19740759
GO:0005344 oxygen transporter activity IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 10390349
GO:0019825 oxygen binding IEA --
genes like me logo Genes that share ontologies with HBA1: view

Phenotypes for HBA1 Gene

genes like me logo Genes that share phenotypes with HBA1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HBA1 Gene

Localization for HBA1 Gene

Subcellular locations from

Jensen Localization Image for HBA1 Gene COMPARTMENTS Subcellular localization image for HBA1 gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 3
nucleus 2
plasma membrane 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005829 cytosol TAS --
GO:0005833 hemoglobin complex TAS 7555018
GO:0016020 membrane IDA 19946888
GO:0022627 cytosolic small ribosomal subunit IDA 8706699
genes like me logo Genes that share ontologies with HBA1: view

Pathways for HBA1 Gene

genes like me logo Genes that share pathways with HBA1: view

Gene Ontology (GO) - Biological Process for HBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis TAS --
GO:0010942 positive regulation of cell death IDA 19740759
GO:0015671 oxygen transport TAS 7518430
GO:0015701 bicarbonate transport TAS --
GO:0042542 response to hydrogen peroxide IDA 19740759
genes like me logo Genes that share ontologies with HBA1: view

Compounds for HBA1 Gene

(3) HMDB Compounds for HBA1 Gene

Compound Synonyms Cas Number PubMed IDs
  • (protoporphyrinato)iron
  • Armco iron
  • Oxygen

(1) Novoseek inferred chemical compound relationships for HBA1 Gene

Compound -log(P) Hits PubMed IDs
oxygen 0 1
genes like me logo Genes that share compounds with HBA1: view

Transcripts for HBA1 Gene

mRNA/cDNA for HBA1 Gene

Unigene Clusters for HBA1 Gene

Hemoglobin, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HBA1 Gene

No ASD Table

Relevant External Links for HBA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HBA1 Gene

mRNA expression in normal human tissues for HBA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBA1 Gene

This gene is overexpressed in Whole Blood (51.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HBA1 Gene

SOURCE GeneReport for Unigene cluster for HBA1 Gene Hs.449630

mRNA Expression by UniProt/SwissProt for HBA1 Gene

Tissue specificity: Red blood cells
genes like me logo Genes that share expressions with HBA1: view

Orthologs for HBA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HBA 36
  • 87.32 (n)
  • 88.03 (a)
HBA 37
  • 88 (a)
HBA 37
  • 88 (a)
(Canis familiaris)
Mammalia -- 37
  • 83 (a)
HBA 37
  • 84 (a)
LOC100855558 36
  • 86.85 (n)
  • 83.8 (a)
(Mus musculus)
Mammalia Hba-a1 36
  • 81.46 (n)
  • 86.62 (a)
Hba-a1 37
  • 87 (a)
Hba-a2 16
Hba-a2 37
  • 87 (a)
(Monodelphis domestica)
Mammalia HBA 37
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 74 (a)
-- 37
  • 49 (a)
(Rattus norvegicus)
Mammalia LOC287167 36
  • 74.88 (n)
  • 74.65 (a)
(Gallus gallus)
Aves HBAA 36
  • 73.94 (n)
  • 70.42 (a)
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hba1 36
  • 60.56 (n)
  • 57.75 (a)
(Danio rerio)
Actinopterygii HBQ1 37
  • 46 (a)
Species with no ortholog for HBA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HBA1 Gene

Gene Tree for HBA1 (if available)
Gene Tree for HBA1 (if available)

Paralogs for HBA1 Gene

Paralogs for HBA1 Gene

genes like me logo Genes that share paralogs with HBA1: view

Variants for HBA1 Gene

Sequence variations from dbSNP and Humsavar for HBA1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1060339 - 177,040(+) ACCAA(A/C/G)GCCGT reference, missense
rs1061009 other 177,103(+) GCGCA(A/C/G)AAGCT reference, missense
rs2685124 -- 176,332(+) GCTAG(A/G)GACGC upstream-variant-2KB
rs2698755 -- 177,259(+) CGGCC(C/G)CACTG intron-variant
rs2858942 -- 175,654(+) TGGTC(A/C)CCTTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HBA1 Gene

Variant ID Type Subtype PubMed ID
dgv2455n71 CNV Loss 21882294
esv2422427 CNV Duplication 17116639
nsv518291 CNV Loss 19592680
dgv2458n71 CNV Loss 21882294
nsv904637 CNV Loss 21882294
nsv827473 CNV Gain 20364138
dgv2460n71 CNV Loss 21882294
dgv2461n71 CNV Loss 21882294
nsv904652 CNV Loss 21882294
esv2662940 CNV Deletion 23128226
dgv2462n71 CNV Loss 21882294
nsv1698 CNV Loss 18451855
esv2667554 CNV Deletion 23128226
dgv2463n71 CNV Loss 21882294
nsv904660 CNV Loss 21882294
dgv2464n71 CNV Loss 21882294
esv24781 CNV Loss 19812545
esv2676630 CNV Deletion 23128226
nsv433296 CNV Loss 18776910
nsv519528 CNV Loss 19592680

Relevant External Links for HBA1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

Disorders for HBA1 Gene

(3) OMIM Diseases for HBA1 Gene (141800)


  • Heinz body anemias (HEIBAN) [MIM:140700]: Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. {ECO:0000269 PubMed:2833478}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Alpha-thalassemia (A-THAL) [MIM:604131]: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha-globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non-deletional alpha-thalassemia). Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Alpha(0)-thalassemia is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
  • Hemoglobin H disease (HBH) [MIM:613978]: A form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence. {ECO:0000269 PubMed:10569720}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for HBA1 Gene

Disease -log(P) Hits PubMed IDs
thalassemia 56 1
niddm 27 1

Relevant External Links for HBA1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with HBA1: view

Publications for HBA1 Gene

  1. Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia. (PMID: 478977) Sanguansermsri T. … Flatz G. (Hemoglobin 1979) 3 4
  2. Identification of the molecular genetic defect of patients with methemoglobin M-Kankakee (M-Iwate), alpha87 (F8) His --> Tyr: evidence for an electrostatic model of alphaM hemoglobin assembly. (PMID: 10477710) Ameri A. … McDonagh K.T. (Blood 1999) 3 23
  3. Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg). (PMID: 1115799) Brimhall B. … Atkins R. (Biochim. Biophys. Acta 1975) 3 4
  4. Three-dimensional Fourier synthesis of human deoxyhaemoglobin at 2.5- A resolution: refinement of the atomic model. (PMID: 1177322) Fermi G. (J. Mol. Biol. 1975) 3 4
  5. HB Al-Ain Abu Dhabi [alpha 18(A16)Gly-->Asp]: a new hemoglobin variant discovered in an Emiratee family. (PMID: 1428941) Abbes S. … Wajcman H. (Hemoglobin 1992) 3 4

Products for HBA1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate HBA1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for HBA1
    • Block miRNA regulation of HBA1 using miScript Target Protectors

    Sources for HBA1 Gene

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