HBA1

Protein identityUniProt · HPA

UniProt accession

P69905

Gene

HBA1

Ensembl

ENSG00000206172

Chromosome

16

Canonical length

142 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transporters

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

142 residues, UniProt reviewed canonical sequence.

>P69905|HBA1
     1  MVLSPADKTN VKAAWGKVGA HAGEYGAEAL ERMFLSFPTT KTYFPHFDLS HGSAQVKGHG
    61  KKVADALTNA VAHVDDMPNA LSALSDLHAH KLRVDPVNFK LLSHCLLVTL AAHLPAEFTP
   121  AVHASLDKFL ASVSTVLTSK YR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HBA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

35,965 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HBA1.

Disease | AllUniProt

Conditions HBA1 is implicated in, by any mechanism.

• Heinz body anemias (HEIBAN) MIM:140700
• Alpha-thalassemia (A-THAL) MIM:604131
• Hemoglobin H disease (HBH) MIM:613978

Disease | GeneticClinVar

133 pathogenic / likely-pathogenic of 419 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• alpha Thalassemia
• Erythrocytosis, familial, 7
• Heinz body anemia
• Methemoglobinemia, alpha type
• Hemoglobin H disease

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.85

gnomAD pLI

0.01

gnomAD missense Z

1.53

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• carbon dioxide transport
• cellular oxidant detoxification
• erythrocyte development
• hydrogen peroxide catabolic process
• inflammatory response
• nitric oxide transport
• oxygen transport
• response to hydrogen peroxide

Molecular functions

• heme binding
• iron ion binding
• oxygen binding
• oxygen carrier activity

Cellular components

• blood microparticle
• cytosol
• endocytic vesicle lumen
• extracellular exosome
• extracellular region
• extracellular space
• haptoglobin-hemoglobin complex
• hemoglobin complex
• membrane

Protein domainsUniProt · Pfam · InterPro

• Globin
• Hemoglobin, alpha-type
• Hemoglobin, pi
• Globin-like superfamily
• Globin/Protoglobin
• Hemoglobin and related oxygen transporters
• Globin

KeywordsUniProt

• Acetylation
• Glycation
• Glycoprotein
• Heme
• Hereditary hemolytic anemia
• Iron
• Metal-binding
• Oxygen transport
• Phosphoprotein
• Transport

InteractionsUniProt · HPA

Protein binding partners of HBA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HBB