POMP

This article is about the protein-gene. For POMP chemotherapy, see chemotherapy regimens.

POMP
Identifiers
Aliases	POMP , C13orf12, PNAS-110, UMP1, HSPC014, proteasome maturation protein, PRAAS2
External IDs	OMIM: 613386; MGI: 1913787; HomoloGene: 41077; GeneCards: POMP; OMA:POMP - orthologs
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q12.3 Start 28,659,104 bp [1] End 28,678,959 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 G3 Start 147,797,271 bp [2] End 147,813,266 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right ventricle biceps brachii mucosa of sigmoid colon corpus epididymis Skeletal muscle tissue of biceps brachii oral cavity male germ cell sperm muscle of trunk tendon of biceps brachii Top expressed in neural tube morula yolk sac ventricular zone blastocyst otic placode epiblast embryo ganglionic eminence embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm organelle membrane cytosol endoplasmic reticulum membrane nucleus intracellular membrane-bounded organelle nuclear speck Biological process proteasome assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51371 66537 Ensembl ENSG00000132963 ENSMUSG00000029649 UniProt Q9Y244 Q9CQT5 RefSeq (mRNA) NM_015932 NM_025624 RefSeq (protein) NP_057016 NP_079900 Location (UCSC) Chr 13: 28.66 – 28.68 Mb Chr 5: 147.8 – 147.81 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Proteasome maturation protein is a protein that in humans is encoded by the POMP gene. ^{[5] [6]} 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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000132963 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029649 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, et al. (October 2000). "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. doi:10.1101/gr.140200. PMC   310934 . PMID   11042152.
6. "Entrez Gene: POMP proteasome maturation protein".
7. Foley CC, Paller AS, Irvine AD (2015). "Chapter 19: Disorders of cornification (icthyosis)". In Eichenfield LF, Frieden IJ (eds.). Neonatal and infant dermatology (3rd ed.). Elsevier Inc. p. 301. ISBN   978-1-4557-2638-7.

Further reading

• Griffin TA, Slack JP, McCluskey TS, Monaco JJ, Colbert RA (April 2000). "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. doi:10.1006/mcbr.2000.0213. PMID   10891394.
• Witt E, Zantopf D, Schmidt M, Kraft R, Kloetzel PM, Krüger E (August 2000). "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. doi:10.1006/jmbi.2000.3959. PMID   10926487.
• Burri L, Höckendorff J, Boehm U, Klamp T, Dohmen RJ, Lévy F (September 2000). "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. Bibcode:2000PNAS...9710348B. doi: 10.1073/pnas.190268597 . PMC   27027 . PMID   10973495.
• Tian S, Liu W, Wu Y, Rafi H, Segal AS, Desir GV (July 2002). "Regulation of the voltage-gated K+ channel KCNA10 by KCNA4B, a novel beta-subunit". American Journal of Physiology. Renal Physiology. 283 (1): F142–9. doi:10.1152/ajprenal.00258.2001. PMID   12060596. S2CID   87148775.
• Jayarapu K, Griffin TA (February 2004). "Protein-protein interactions among human 20S proteasome subunits and proteassemblin". Biochemical and Biophysical Research Communications. 314 (2): 523–8. doi:10.1016/j.bbrc.2003.12.119. PMID   14733938.
• Heink S, Ludwig D, Kloetzel PM, Krüger E (June 2005). "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. Bibcode:2005PNAS..102.9241H. doi: 10.1073/pnas.0501711102 . PMC   1166598 . PMID   15944226.
• Hirano Y, Hendil KB, Yashiroda H, Iemura S, Nagane R, Hioki Y, Natsume T, Tanaka K, Murata S (October 2005). "A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes". Nature. 437 (7063): 1381–5. Bibcode:2005Natur.437.1381H. doi:10.1038/nature04106. PMID   16251969. S2CID   4424913.
• Hoefer MM, Boneberg EM, Grotegut S, Kusch J, Illges H (May 2006). "Possible tetramerisation of the proteasome maturation factor POMP/proteassemblin/hUmp1 and its subcellular localisation". International Journal of Biological Macromolecules. 38 (3–5): 259–67. doi:10.1016/j.ijbiomac.2006.03.015. PMID   16624403.