POMP

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)
End	28,678,959 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	147,813,266 bp
RNA expression pattern
	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
	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
	51371
	66537
	ENSG00000132963
	ENSMUSG00000029649
	Q9Y244
	Q9CQT5
	NM_015932
	NM_025624
	NP_057016
	NP_079900
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000132963 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029649 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ "Entrez Gene: POMP proteasome maturation protein".
^ 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.

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.

This article on a gene on human chromosome 13 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000132963 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11042152-5] 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.

[entrez-6] "Entrez Gene: POMP proteasome maturation protein".

[Foley-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.

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References

Further reading