Protein 4.2 Explained

Erythrocyte membrane protein band 4.2 is a protein that in humans is encoded by the EPB42 gene.^{[1] [2]} It is part of the red blood cell cytoskeleton.

Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of band 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia.

See also

• Hereditary elliptocytosis

Further reading

• Falcón-Pérez JM, Dell'Angelica EC . The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis . Pigment Cell Res. . 15 . 2 . 82–86 . 2002 . 11936273 . 10.1034/j.1600-0749.2002.1r082.x . free .
• Sung LA . Human erythrocyte protein 4.2: isoform expression, differential splicing, and chromosomal assignment . Blood . 79 . 10 . 2763–70 . 1992 . 1350227 . vanc. Chien S . Fan YS . 3 . Lin . CC . Lambert . K . Zhu . L . Lam . JS . Chang . LS . 10.1182/blood.V79.10.2763.2763 . free .
• Risinger MA, Dotimas EM, Cohen CM . Human erythrocyte protein 4.2, a high copy number membrane protein, is N-myristylated . J. Biol. Chem. . 267 . 8 . 5680–5 . 1992 . 10.1016/S0021-9258(18)42820-7 . 1544941 . free .
• Bouhassira EE . An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON) . Blood . 79 . 7 . 1846–54 . 1992 . 1558976 . vanc. Schwartz RS . Yawata Y . 3 . Ata . K . Kanzaki . A . Qiu . JJ . Nagel . RL . Rybicki . AC . 10.1182/blood.V79.7.1846.1846 . free .
• Sung LA . Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane . Proc. Natl. Acad. Sci. U.S.A. . 87 . 3 . 955–959 . 1990 . 1689063 . 10.1073/pnas.87.3.955 . 53388 . vanc. Chien S . Chang LS . 3 . Lambert . K . Bliss . SA . Bouhassira . EE . Nagel . RL . Schwartz . RS . Rybicki . AC . 1990PNAS...87..955S . free .
• Najfeld V . The gene for human erythrocyte protein 4.2 maps to chromosome 15q15 . Am. J. Hum. Genet. . 50 . 1 . 71–5 . 1992 . 1729896 . 1682530 . vanc. Ballard SG . Menninger J . 3 . Ward . DC . Bouhassira . EE . Schwartz . RS . Nagel . RL . Rybicki . AC .
• Low PS . Contribution of the band 3-ankyrin interaction to erythrocyte membrane mechanical stability . Blood . 77 . 7 . 1581–6 . 1991 . 1826225 . vanc. Willardson BM . Mohandas N . 3 . Rossi . M . Shohet . S . 10.1182/blood.V77.7.1581.1581 . free .
• Korsgren C, Cohen CM . Organization of the gene for human erythrocyte membrane protein 4.2: structural similarities with the gene for the a subunit of factor XIII . Proc. Natl. Acad. Sci. U.S.A. . 88 . 11 . 4840–4844 . 1991 . 2052563 . 10.1073/pnas.88.11.4840 . 51762 . 1991PNAS...88.4840K . free .
• Korsgren C . Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2 . Proc. Natl. Acad. Sci. U.S.A. . 87 . 2 . 613–617 . 1990 . 2300550 . 10.1073/pnas.87.2.613 . 53315 . vanc. Lawler J . Lambert S . 3 . Speicher . D . Cohen . CM . 1990PNAS...87..613K . free .
• Korsgren C, Cohen CM . Associations of human erythrocyte band 4.2. Binding to ankyrin and to the cytoplasmic domain of band 3 . J. Biol. Chem. . 263 . 21 . 10212–8 . 1988 . 10.1016/S0021-9258(19)81500-4 . 2968981 . free .
• Tanimoto T . Binding of ras p21 to bands 4.2 and 6 of human erythrocyte membranes . FEBS Lett. . 226 . 2 . 291–296 . 1988 . 3276554 . 10.1016/0014-5793(88)81442-X . vanc. Hoshijima M . Kawata M . 3 . Yamamoto . K . Ohmori . T . Shiku . H . Nakano . H . Takai . Y . free .
• Rybicki AC, Musto S, Schwartz RS . Identification of a band-3 binding site near the N-terminus of erythrocyte membrane protein 4.2 . Biochem. J. . 309 . 2. 677–81 . 1995 . 10.1042/bj3090677 . 7626035 . 1135783 .
• Hayette S . A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia . Br. J. Haematol. . 89 . 4 . 762–770 . 1995 . 7772513 . 10.1111/j.1365-2141.1995.tb08413.x . vanc. Morle L . Bozon M . 3 . Ghanem . A. . Risinger . M. . Korsgren . C. . Tanner . M. J. A. . Fattoum . S. . Cohen . C. M. . 43155950 .
• Hayette S . A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia . Blood . 85 . 1 . 250–6 . 1995 . 7803799 . vanc. Dhermy D . dos Santos ME . 3 . Bozon . M . Drenckhahn . D . Alloisio . N . Texier . P . Delaunay . J . Morlé . L . 10.1182/blood.V85.1.250.bloodjournal851250 . free .
• Takaoka Y . A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka) . Br. J. Haematol. . 88 . 3 . 527–533 . 1995 . 7819064 . 10.1111/j.1365-2141.1994.tb05069.x . vanc. Ideguchi H . Matsuda M . 3 . Sakamoto . Norihiro . Takeuchi . Takayuki . Fukumaki . Yasuyuki . 42509283 .
• Das AK . Human erythrocyte membrane protein 4.2 is palmitoylated . Eur. J. Biochem. . 224 . 2 . 575–580 . 1994 . 7925374 . 10.1111/j.1432-1033.1994.00575.x . vanc. Bhattacharya R . Kundu M . 3 . Chakrabarti . Parul . Basu . Joyoti . free.
• Dotimas E, Speicher DW, GuptaRoy B, Cohen CM . Structural domain mapping and phosphorylation of human erythrocyte pallidin (band 4.2) . Biochim. Biophys. Acta . 1148 . 1 . 19–29 . 1993 . 8499466 . 10.1016/0005-2736(93)90156-T .
• Azim AC . Human erythrocyte dematin and protein 4.2 (pallidin) are ATP binding proteins . Biochemistry . 35 . 9 . 3001–3006 . 1996 . 8608138 . 10.1021/bi951745y . vanc. Marfatia SM . Korsgren C . 3 . Dotimas . Elizabeth . Cohen . Carl M. . Chishti . Athar H. .
• Bhattacharyya R . Mapping of a palmitoylatable band 3-binding domain of human erythrocyte membrane protein 4.2 . Biochem. J. . 340 . 2. 505–12 . 1999 . 10333496 . 10.1042/0264-6021:3400505. 1220278 . vanc. Das AK . Moitra PK . 3 . Pal . B . Mandal . I . Basu . J .

Notes and References

1. White RA, Peters LL, Adkison LR, Korsgren C, Cohen CM, Lux SE . The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene . Nat Genet . 2 . 1 . 80–83 . Jun 1993 . 1284644 . 10.1038/ng0992-80 . 42065586 .
2. Web site: Entrez Gene: EPB42 erythrocyte membrane protein band 4.2.