ID:EPB42_HUMAN DESCRIPTION: RecName: Full=Erythrocyte membrane protein band 4.2; Short=Erythrocyte protein 4.2; Short=P4.2; FUNCTION: Probably plays an important role in the regulation of erythrocyte shape and mechanical properties. SUBUNIT: Oligomer. Interacts with the cytoplasmic domain of SLC4A1/band 3 anion transport protein. INTERACTION: P58062:SPINK7; NbExp=3; IntAct=EBI-1182496, EBI-1182445; SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of erythrocyte membranes. PTM: Both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to phosphorylate EPB42. DISEASE: Defects in EPB42 are the cause of spherocytosis type 5 (SPH5) [MIM:612690]; also known as hereditary spherocytosis type 5 (HS5). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported. MISCELLANEOUS: The substitution of an Ala for a Cys in the active site may be responsible for the lack of transglutaminase activity of band 4.2. SIMILARITY: Belongs to the transglutaminase superfamily. Transglutaminase family. SEQUENCE CAUTION: Sequence=AAA36401.1; Type=Frameshift; Positions=335, 340; Sequence=AAA36402.1; Type=Frameshift; Positions=335, 340;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00868 - Transglutaminase family PF00927 - Transglutaminase family, C-terminal ig like domain PF01841 - Transglutaminase-like superfamily
SCOP Domains: 81296 - E set domains 49309 - Transglutaminase, two C-terminal domains 54001 - Cysteine proteinases
ModBase Predicted Comparative 3D Structure on P16452
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
