POMP explained

Proteasome maturation protein is a protein that in humans is encoded by the POMP gene.^{[1] [2]} It is a short-lived maturation factor required for 20S proteasome subunit biogenesis.

A single nucleotide deletion in this gene causes an autosomal recessive skin disorder, keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome.^[3]

Further reading

• Griffin TA, Slack JP, McCluskey TS, Monaco JJ, Colbert RA . Identification of proteassemblin, a mammalian homologue of the yeast protein, Ump1p, that is required for normal proteasome assembly . Molecular Cell Biology Research Communications . 3 . 4 . 212–7 . April 2000 . 10891394 . 10.1006/mcbr.2000.0213 .
• Witt E, Zantopf D, Schmidt M, Kraft R, Kloetzel PM, Krüger E . Characterisation of the newly identified human Ump1 homologue POMP and analysis of LMP7(beta 5i) incorporation into 20 S proteasomes . Journal of Molecular Biology . 301 . 1 . 1–9 . August 2000 . 10926487 . 10.1006/jmbi.2000.3959 .
• Burri L, Höckendorff J, Boehm U, Klamp T, Dohmen RJ, Lévy F . Identification and characterization of a mammalian protein interacting with 20S proteasome precursors . Proceedings of the National Academy of Sciences of the United States of America . 97 . 19 . 10348–53 . September 2000 . 10973495 . 27027 . 10.1073/pnas.190268597 . 2000PNAS...9710348B . free .
• Tian S, Liu W, Wu Y, Rafi H, Segal AS, Desir GV . Regulation of the voltage-gated K+ channel KCNA10 by KCNA4B, a novel beta-subunit . American Journal of Physiology. Renal Physiology . 283 . 1 . F142–9 . July 2002 . 12060596 . 10.1152/ajprenal.00258.2001 . 87148775 .
• Jayarapu K, Griffin TA . Protein-protein interactions among human 20S proteasome subunits and proteassemblin . Biochemical and Biophysical Research Communications . 314 . 2 . 523–8 . February 2004 . 14733938 . 10.1016/j.bbrc.2003.12.119 .
• Heink S, Ludwig D, Kloetzel PM, Krüger E . IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response . Proceedings of the National Academy of Sciences of the United States of America . 102 . 26 . 9241–6 . June 2005 . 15944226 . 1166598 . 10.1073/pnas.0501711102 . 2005PNAS..102.9241H . free .
• Hirano Y, Hendil KB, Yashiroda H, Iemura S, Nagane R, Hioki Y, Natsume T, Tanaka K, Murata S . A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes . Nature . 437 . 7063 . 1381–5 . October 2005 . 16251969 . 10.1038/nature04106 . 2005Natur.437.1381H . 4424913 .
• Hoefer MM, Boneberg EM, Grotegut S, Kusch J, Illges H . Possible tetramerisation of the proteasome maturation factor POMP/proteassemblin/hUmp1 and its subcellular localisation . International Journal of Biological Macromolecules . 38 . 3–5 . 259–67 . May 2006 . 16624403 . 10.1016/j.ijbiomac.2006.03.015 .

Notes and References

1. Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z . 6 . Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells . Genome Research . 10 . 10 . 1546–60 . October 2000 . 11042152 . 310934 . 10.1101/gr.140200 .
2. Web site: Entrez Gene: POMP proteasome maturation protein.
3. Book: Foley . Catherine C. . Paller . Amy S. . Irvine . Alan D. . Eichenfield . Lawrence F. . Frieden . Ilona J. . vanc . Neonatal and infant dermatology . 2015 . Elsevier Inc . 978-1-4557-2638-7 . 301 . 3rd . https://books.google.com/books?id=ndfsAwAAQBAJ&pg=PA301 . Chapter 19: Disorders of cornification (icthyosis).