HBB

Protein identityUniProt · HPA

UniProt accession

P68871

Gene

HBB

Ensembl

ENSG00000244734

Chromosome

11

Canonical length

147 aa

Protein class

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

OverviewNCBI Gene

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

147 residues, UniProt reviewed canonical sequence.

>P68871|HBB
     1  MVHLTPEEKS AVTALWGKVN VDEVGGEALG RLLVVYPWTQ RFFESFGDLS TPDAVMGNPK
    61  VKAHGKKVLG AFSDGLAHLD NLKGTFATLS ELHCDKLHVD PENFRLLGNV LVCVLAHHFG
   121  KEFTPPVQAA YQKVVAGVAN ALAHKYH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HBB 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)

0.28

Highest tissue expression

125,481 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HBB.

Disease | AllUniProt

Conditions HBB is implicated in, by any mechanism.

• Heinz body anemias (HEIBAN) MIM:140700
• Beta-thalassemia (B-THAL) MIM:613985
• Sickle cell disease (SKCA) MIM:603903
• Beta-thalassemia, dominant, inclusion body type (B-THALIB) MIM:603902

Disease | GeneticClinVar

427 pathogenic / likely-pathogenic of 1,853 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• beta Thalassemia
• Beta-thalassemia HBB/LCRB
• 8 conditions
• Beta zero thalassemia
• Hemoglobinopathy

Disease | ImmuneIEDB

Conditions an epitope on HBB was assayed in.

• pancreatic ductal adenocarcinoma T cell

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)

1.98

gnomAD pLI

0

gnomAD missense Z

-0.21

DepMap mean gene effect

0.16

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• blood vessel diameter maintenance
• carbon dioxide transport
• cellular oxidant detoxification
• erythrocyte development
• hydrogen peroxide catabolic process
• inflammatory response
• nitric oxide transport
• oxygen transport
• platelet aggregation
• positive regulation of nitric oxide biosynthetic process
• regulation of blood pressure
• renal absorption
• response to hydrogen peroxide

Molecular functions

• heme binding
• hemoglobin alpha binding
• hemoglobin binding
• metal ion binding
• oxygen binding
• oxygen carrier activity

Cellular components

• blood microparticle
• cytosol
• endocytic vesicle lumen
• extracellular exosome
• extracellular region
• extracellular space
• ficolin-1-rich granule lumen
• haptoglobin-hemoglobin complex
• hemoglobin complex
• tertiary granule lumen

Protein domainsUniProt · Pfam · InterPro

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

KeywordsUniProt

• Acetylation
• Congenital dyserythropoietic anemia
• Glycation
• Glycoprotein
• Heme
• Hereditary hemolytic anemia
• Hypotensive agent
• Iron
• Metal-binding
• Oxygen transport
• Phosphoprotein
• Pyruvate
• S-nitrosylation
• Transport
• Vasoactive

InteractionsUniProt · HPA

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

• HBA1