Hemoglobin subunit beta

UniProt P68871 Organism Homo sapiens Gene HBB

Also known as: HBB

Function

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

Classification

Family (Pfam): PF00042 Globin
InterPro: Globin, Globin-like_sf, Globin/Proto, Hemoglobin_b, Hemoglobin_oxygen_transport
Functional cluster: Globins & Ribosomal Protein L6

Experimental structures · PDB · 340

1A00 X-ray 2.00A
1A01 X-ray 1.80A
1A0U X-ray 2.14A
1A0Z X-ray 2.00A
1A3N X-ray 1.80A
1A3O X-ray 1.80A
1ABW X-ray 2.00A
1ABY X-ray 2.60A
1AJ9 X-ray 2.20A
1B86 X-ray 2.50A
1BAB X-ray 1.50A
1BBB X-ray 1.70A
… and 328 more

A predicted model is available from AlphaFold.

Gene Ontology · 29

Disease associations

Heinz body anemia MONDO:0007705
OMIM:141900 RAW:OMIM_141900
dominant beta-thalassemia MONDO:0011381
sickle cell disease MONDO:0011382
malaria, susceptibility to MONDO:0021024
beta-thalassemia HBB/LCRB MONDO:0013517

Drugs targeting this protein · 2

EFAPROXIRAL negative modulator
VOXELOTOR positive modulator

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Hemoglobin subunit alpha 7 shared papers
Hemoglobin subunit zeta 3 shared papers
Hemoglobin subunit gamma-2 1 shared papers
Aspartic protease 2 1 shared papers
Hemoglobin subunit beta-1 1 shared papers
Proline-rich protein 4 1 shared papers
Extracellular glycoprotein lacritin 1 shared papers
Lysozyme C 1 shared papers
Opiorphin prepropeptide 1 shared papers
Mesothelin 1 shared papers
Antileukoproteinase 1 shared papers
Lipocalin-1 1 shared papers

Literature · 137 cited papers

Low affinity hemoglobinopathy (Hb Vigo) due to a new mutation of beta globin gene (c200 A>T; Lys>Ile). A cause of rare anemia misdiagnosis. Am. J. Hematol. · 2017
Mass spectrometry based characterization of Hb Beckman variant in a falsely elevated HbA(1c) sample. Anal. Biochem. · 2015
Human basal tear peptidome characterization by CID, HCD, and ETD followed by in silico and in vitro analyses for antimicrobial peptide identification. J. Proteome Res. · 2015
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J. Proteomics · 2014
Structure of fully liganded Hb zeta2beta2s trapped in a tense conformation. Acta Crystallogr. D · 2013
Initial characterization of the human central proteome. BMC Syst. Biol. · 2011
A novel hemoglobin variant beta135(H13) Ala > Asp identified in an asymptomatic Korean family by direct sequencing: suggesting a new insight into Hb Beckman mutation. Int. J. Lab. Hematol. · 2010
Structure-activity relationship studies of spinorphin as a potent and selective human P2X(3) receptor antagonist. J. Med. Chem. · 2007
Hemorphin and hemorphin-like peptides isolated from dog pancreas and sheep brain are able to potentiate bradykinin activity in vivo. Peptides · 2006
The beta-globin recombinational hotspot reduces the effects of strong selection around HbC, a recently arisen mutation providing resistance to malaria. Am. J. Hum. Genet. · 2005
How malaria has affected the human genome and what human genetics can teach us about malaria. Am. J. Hum. Genet. · 2005
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
… and 125 more in the literature graph

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