erythrocyte membrane protein band 4.2; erythrocyte protein 4.2; P4.2 (EPB42, E42P)

Introduction

band # from SDS gel of erythrocyte ghosts

Function

• role in regulation of erythrocyte shape & mechanical properties
• both cAMP-dependent kinase (CAPK) & another kinase present in erythrocytes seem to be able to phosphorylate EPB42
• interacts with the cytoplasmic domain of SLC4A1/band 3 anion transport protein

Structure

• oligomer
• belongs to the transglutaminase superfamily transglutaminase family
• substitution of an Ala for a Cys in the active site may be responsible for the lack of transglutaminase activity of band 4.2

Compartment

• cell membrane; lipid-anchor; cytoplasmic side
• cytoplasm, cytoskeleton
• cytoplasmic surface of erythrocyte membranes

Alternative splicing

• named isoforms=2; short (major isoform), long

Pathology

• defects in EPB42 are a cause of hereditary spherocytosis

More general terms

• myristoylated protein

Database

• UniProt: http://www.uniprot.org/uniprot/P16452.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2038
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2038
• OMIM: https://mirror.omim.org/entry/177070