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Aliases for HBA1 Gene

Aliases for HBA1 Gene

  • Hemoglobin Subunit Alpha 1 2 3 5
  • Hemoglobin, Alpha 1 2 3
  • Hemoglobin Alpha 1 Globin Chain 3
  • Hemoglobin Alpha Chain 4
  • Alpha-2 Globin Chain 3
  • Alpha One Globin 3
  • Delta Globin 3
  • Alpha-Globin 4
  • HBA1 HBA2 4
  • HBA-T3 3
  • HBH 3

External Ids for HBA1 Gene

Previous GeneCards Identifiers for HBA1 Gene

  • GC16P000243
  • GC16P000156
  • GC16P000159
  • GC16P000166
  • GC16P000143
  • GC16P000241
  • GC16P000144
  • GC16P000253
  • GC16P000258
  • GC16P000262
  • GC16P000266
  • GC16P000277
  • GC16P000292
  • GC16P000300
  • GC16P000195
  • GC16P000200

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 Subunit Alpha 1) is a Protein Coding gene. Diseases associated with HBA1 include Thalassemias, Alpha- and Heinz Body Anemia. Among its related pathways are Malaria and O2/CO2 exchange in erythrocytes. GO annotations related to this gene include iron ion binding and oxygen binding. 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

Regulatory Elements for HBA1 Gene

Enhancers for HBA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HBA1 on UCSC Golden Path with GeneCards custom track

Promoters for HBA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HBA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HBA1 Gene

Chromosome:
16
Start:
176,651 bp from pter
End:
177,522 bp from pter
Size:
872 bases
Orientation:
Plus strand

Genomic View for HBA1 Gene

Genes around HBA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBA1 Gene

Proteins for HBA1 Gene

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

    Protein Symbol:
    P69905-HBA_HUMAN
    Recommended name:
    Hemoglobin subunit alpha
    Protein Accession:
    P69905
    Secondary Accessions:
    • P01922
    • Q1HDT5
    • Q3MIF5
    • Q53F97
    • Q96KF1
    • Q9NYR7
    • Q9UCM0

    Protein attributes for HBA1 Gene

    Size:
    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).
    • 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).
    Miscellaneous:
    • Gives blood its red color.
    SequenceCaution:
    • 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.
  • Glycosylation at Lys 8, Lys 17, Lys 41, and Lys 62
  • Modification sites at PhosphoSitePlus

Other Protein References for HBA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HBA1 Gene

Domains & Families for HBA1 Gene

Gene Families for HBA1 Gene

Protein Domains for HBA1 Gene

Graphical View of Domain Structure for InterPro Entry

P69905

UniProtKB/Swiss-Prot:

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

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:0005515 protein binding IPI 1552945
GO:0031720 contributes_to haptoglobin binding IDA 19740759
genes like me logo Genes that share ontologies with HBA1: view
genes like me logo Genes that share phenotypes with HBA1: view

Human Phenotype Ontology for HBA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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

Localization for HBA1 Gene

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for HBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0022627 cytosolic small ribosomal subunit IDA 8706699
GO:0031838 haptoglobin-hemoglobin complex IDA 19740759
genes like me logo Genes that share ontologies with HBA1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HBA1 Gene

Pathways & Interactions 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:0044281 small molecule metabolic process TAS --
GO:0051291 protein heterooligomerization IDA 19740759
genes like me logo Genes that share ontologies with HBA1: view

No data available for SIGNOR curated interactions for HBA1 Gene

Drugs & Compounds for HBA1 Gene

(11) Drugs for HBA1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mefloquine Approved Pharma Target, antagonist 55
Iron Dextran Approved Pharma Target, activator 0
1,3,5-BENZENETRICARBOXYLIC ACID Experimental Pharma Target 0
2,6-dicarboxynaphthalene Experimental Pharma Target 0
2-[(2-methoxy-5-methylphenoxy)methyl]pyridine Experimental Pharma Target 0

(2) Additional Compounds for HBA1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
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
HBA1
ECgene alternative splicing isoforms for
HBA1

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 (x51.9).

Protein differential expression in normal tissues from HIPED for HBA1 Gene

This gene is overexpressed in Lavage (8.7) and Cerebral cortex (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P69905-HBA_HUMAN
Tissue specificity: Red blood cells.
genes like me logo Genes that share expression patterns with HBA1: view

Protein tissue co-expression partners for HBA1 Gene

- Elite partner

Primer Products

Orthologs for HBA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HBA 35
  • 87.32 (n)
  • 88.03 (a)
HBA 36
  • 88 (a)
ManyToMany
HBA 36
  • 88 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia LOC100855558 35
  • 86.85 (n)
  • 83.8 (a)
-- 36
  • 83 (a)
ManyToMany
HBA 36
  • 84 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Hba-a1 35
  • 81.46 (n)
  • 86.62 (a)
Hba-a1 36
  • 87 (a)
ManyToMany
Hba-a2 36
  • 87 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia LOC287167 35
  • 74.88 (n)
  • 74.65 (a)
oppossum
(Monodelphis domestica)
Mammalia HBA 36
  • 57 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
ManyToMany
-- 36
  • 49 (a)
ManyToMany
chicken
(Gallus gallus)
Aves HBAA 35
  • 73.94 (n)
  • 70.42 (a)
HBAA 36
  • 70 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hba1 35
  • 60.56 (n)
  • 57.75 (a)
zebrafish
(Danio rerio)
Actinopterygii HBQ1 36
  • 46 (a)
OneToMany
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

ENSEMBL:
Gene Tree for HBA1 (if available)
TreeFam:
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
VAR_002719 -
rs36030576 - 176,724(+) GGTGC(G/T)GTCTC reference, missense
rs34090856 - 176,733(+) TCCTG(A/C)CGACA reference, missense
rs34751764 - 176,732(+) CTCCT(C/G)CCGAC reference, missense
rs33986902 - 176,736(+) TGCCG(A/C/G/T)CAAGA reference, missense

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

Variation tolerance for HBA1 Gene

Gene Damage Index Score: 0.10; 2.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HBA1 Gene

Human Gene Mutation Database (HGMD)
HBA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBA1 Gene

Disorders for HBA1 Gene

MalaCards: The human disease database

(93) MalaCards diseases for HBA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thalassemias, alpha-
  • thalassemia, alpha-
heinz body anemia
  • heinz body anemias, beta-
hemoglobin h disease, nondeletional
  • alpha-thalassemia
hb bart's hydrops fetalis
  • alpha-thalassemia hydrops fetalis
autosomal dominant methemoglobinemia
  • congenital methemoglobinemia
- elite association - COSMIC cancer census association via MalaCards
Search HBA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HBA_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.

Relevant External Links for HBA1

Genetic Association Database (GAD)
HBA1
Human Genome Epidemiology (HuGE) Navigator
HBA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HBA1
genes like me logo Genes that share disorders with HBA1: view

No data available for Genatlas for HBA1 Gene

Publications for HBA1 Gene

  1. Rapid diagnosis of alpha-thalassemia by melting curve analysis. (PMID: 20190015) Munkongdee T. … Svasti S. (J Mol Diagn 2010) 3 48 67
  2. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  3. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  4. 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
  5. A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. (PMID: 1975428) Wilkie A.O. … Higgs D.R. (Nature 1990) 2 3

Products for HBA1 Gene

Sources for HBA1 Gene

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