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hemoglobin beta chain (beta globin, HBB)

Function: - beta subunit of hemoglobin - binds 2,3-bisphospoglycerate regulating affinity of hemoglobin for oxygen - one molecule of 2,3-bisphospoglycerate can bind to two beta chains per hemoglobin tetramer - LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure - S-nitrosylated a nitric oxide group is first bound to Fe+2 & then transferred to Cys-94 to allow capture of O2 - acetylated on Lys-60, Lys-83 & Lys-145 upon aspirin exposure - glucose reacts non-enzymatically with the N-terminus of the beta chain to form a stable ketoamine linkage this takes place slowly & continuously throughout the 120-day life span of the red blood cell the rate of glycation is increased in patients with diabetes mellitus (see hemoglobin A1c) Structure: - belongs to the globin family - MASS SPECTROMETRY: mass=1310; method=FAB; Range=33-42 Expression: erythrocytes Pathology: 1) defects in HBB may be a cause of Heinz body anemias 2) defects in HBB are the cause of beta-thalassemia - dominant beta-thalassemia inclusion body type 3) defects in HBB are the cause of sickle cell anemia Laboratory: - beta globin gene mutation

Related

beta globin (HBB) gene mutation beta globin (HBB) genotyping beta globin gene

General

globin chain

Properties

SIZE: entity length = 147 aa MW = 16 kD MOTIF: binding site SITE: 2-2 FOR-BINDING-OF: 2,3-bisphosphoglycerate; via amino nitrogen binding site SITE: 3-3 FOR-BINDING-OF: 2,3-bisphosphoglycerate lysine residue {60} Iron [Fe]-binding site SITE: 64-64 binding site SITE: 83-83 FOR-BINDING-OF: 2,3-bisphosphoglycerate MOTIF: lysine residue {83} Iron [Fe]-binding site SITE: 93-93 lysine residue {96} leucine residue {142} binding site SITE: 144-144 FOR-BINDING-OF: 2,3-bisphosphoglycerate lysine residue {145}

Database Correlations

OMIM correlations MORBIDMAP 141900 UniProt P68871 Pfam PF00042 Entrez Gene 3043 Kegg hsa:3043

References

  1. Entrez Gene :accession 3043
  2. Hbvar; Note: Human hemoglobin variants and thalassemias http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBB
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB
  4. SHMPD; Singapore human mutation and polymorphism database http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBB
  5. Wikipedia; hemoglobin entry http://en.wikipedia.org/wiki/hemoglobin
  6. UniProt :accession P68871
  7. Mass spectroscopy PMID: 1575724

Component-of

hemoglobin-variant