Structure-function relationships of band 3 variants. 1996

L J Bruce, and M J Tanner
Department of Biochemistry, University of Bristol, U.K.

This review describes many of the naturally occurring band 3 variants that have been reported in the literature to date; from the common band 3 Memphis, to the rare band 3 HT. Both the molecular basis of these variants, and their effect on the structure and/or function of band 3, are described. The blood group antigens that have recently been assigned to band 3, such as Diego, Wright, Waldner, Redelberger and Warrior, are mentioned. Band 3 variants that affect the morphology of the red cell (e.g. acanthocytosis in band 3 HT and stomatocytic ovalocytosis in band 3 SAO) are described, as are many of the band 3 mutations that cause instability, either at the mRNA or protein level, and hence hereditary spherocytosis (HS). Band 3 variants that affect the binding pocket of the anion transport inhibitor, 4,4'-diisothiocyanato-2,2'-dihydrostilbene disulphonic acid (H2DIDS), (e.g. Diego and band 3 HT) and band 3 variants that affect the rate of anion transport (e.g. band 3 HT and band 3 in red cells that lack glycophorin A (GPA)) are reviewed in greater detail. The association between band 3 and GPA is discussed; both with respect to the Wright antigens and with regards the structure/function of band 3 in the absence of GPA.

UI MeSH Term Description Entries
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009422 Nervous System Diseases Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle. Neurologic Disorders,Nervous System Disorders,Neurological Disorders,Disease, Nervous System,Diseases, Nervous System,Disorder, Nervous System,Disorder, Neurologic,Disorder, Neurological,Disorders, Nervous System,Disorders, Neurologic,Disorders, Neurological,Nervous System Disease,Nervous System Disorder,Neurologic Disorder,Neurological Disorder
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D001789 Blood Group Antigens Sets of cell surface antigens located on BLOOD CELLS. They are usually membrane GLYCOPROTEINS or GLYCOLIPIDS that are antigenically distinguished by their carbohydrate moieties. Blood Group,Blood Group Antigen,Blood Groups,Antigen, Blood Group,Antigens, Blood Group,Group Antigen, Blood,Group, Blood,Groups, Blood
D006021 Glycophorins The major sialoglycoprotein of human erythrocyte membranes. It consists of at least two sialoglycopeptides and is composed of 60% carbohydrate including sialic acid and 40% protein. It is involved in a number of different biological activities including the binding of MN blood groups, influenza viruses, kidney bean phytohemagglutinin, and wheat germ agglutinin. Erythrocyte Sialoglycoproteins,Glycoconnectin,Glycoconnectins,Glycophorin,Glycophorin D,MN Sialoglycoprotein,Red Blood Cell Membrane Sialoglycoprotein,Glycophorin A,Glycophorin A(M),Glycophorin B,Glycophorin C,Glycophorin E,Glycophorin HA,Ss Erythrocyte Membrane Sialoglycoproteins,Ss Sialoglycoprotein,beta-Sialoglycoprotein,Sialoglycoprotein, MN,Sialoglycoprotein, Ss,Sialoglycoproteins, Erythrocyte,beta Sialoglycoprotein
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000050 Acanthocytes Erythrocytes with protoplasmic projections giving the cell a thorny appearance. Acanthocyte
D000595 Amino Acid Sequence The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION. Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
D000745 Anemia, Hemolytic, Congenital Hemolytic anemia due to various intrinsic defects of the erythrocyte. Anemia, Hemolytic, Hereditary,Congenital Hemolytic Anemia,Hemolytic Anemia, Congenital,Hemolytic Anemia, Hereditary,Hereditary Hemolytic Anemia,Anemia, Congenital Hemolytic,Anemia, Hereditary Hemolytic,Anemias, Congenital Hemolytic,Anemias, Hereditary Hemolytic,Congenital Hemolytic Anemias,Hemolytic Anemias, Congenital,Hemolytic Anemias, Hereditary,Hereditary Hemolytic Anemias

Related Publications

L J Bruce, and M J Tanner
June 1994, FEBS letters,
L J Bruce, and M J Tanner
November 1996, Cellular and molecular biology (Noisy-le-Grand, France),
L J Bruce, and M J Tanner
September 2008, The Journal of thoracic and cardiovascular surgery,
L J Bruce, and M J Tanner
December 1994, Fukuoka igaku zasshi = Hukuoka acta medica,
L J Bruce, and M J Tanner
January 1989, Annals of the New York Academy of Sciences,
L J Bruce, and M J Tanner
January 1997, Molecular membrane biology,
L J Bruce, and M J Tanner
February 1991, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis,
L J Bruce, and M J Tanner
January 1990, Progress in clinical and biological research,
L J Bruce, and M J Tanner
April 2004, International journal of medical microbiology : IJMM,
Copied contents to your clipboard!