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Wikipedia

POMP

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.

POMP
Identifiers
AliasesPOMP, C13orf12, PNAS-110, UMP1, HSPC014, proteasome maturation protein, PRAAS2
External IDsOMIM: 613386 MGI: 1913787 HomoloGene: 41077 GeneCards: POMP
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015932

NM_025624

RefSeq (protein)

NP_057016

NP_079900

Location (UCSC)Chr 13: 28.66 – 28.68 MbChr 5: 147.8 – 147.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000132963 - Ensembl, May 2017
  2. ^ a b c 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 edit

  • 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.


pomp, this, article, about, protein, gene, chemotherapy, chemotherapy, regimens, proteasome, maturation, protein, protein, that, humans, encoded, gene, short, lived, maturation, factor, required, proteasome, subunit, biogenesis, identifiersaliases, c13orf12, p. This article is about the protein gene For POMP chemotherapy see chemotherapy regimens 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 POMPIdentifiersAliasesPOMP C13orf12 PNAS 110 UMP1 HSPC014 proteasome maturation protein PRAAS2External IDsOMIM 613386 MGI 1913787 HomoloGene 41077 GeneCards POMPGene location Human Chr Chromosome 13 human 1 Band13q12 3Start28 659 104 bp 1 End28 678 959 bp 1 Gene location Mouse Chr Chromosome 5 mouse 2 Band5 5 G3Start147 797 271 bp 2 End147 813 266 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright ventriclebiceps brachiicorpus epididymiscavity of mouthspermthoracic diaphragmspongy boneinternal globus pallidussuperficial temporal arterytriceps brachii muscleTop expressed inneural tubeyolk sacmorulaotic placodeganglionic eminenceblastocystabdominal wallendocardial cushionskin of abdomenmedial ganglionic eminenceMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein bindingCellular componentcytoplasm organelle membrane cytosol endoplasmic reticulum membrane nucleus intracellular membrane bounded organelle nuclear speckBiological processproteasome assemblySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5137166537EnsemblENSG00000132963ENSMUSG00000029649UniProtQ9Y244Q9CQT5RefSeq mRNA NM 015932NM 025624RefSeq protein NP 057016NP 079900Location UCSC Chr 13 28 66 28 68 MbChr 5 147 8 147 81 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseA single nucleotide deletion in this gene causes an autosomal recessive skin disorder keratosis linearis with ichthyosis congenita and sclerosing keratoderma KLICK syndrome 7 References edit 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 Further reading editGriffin 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 Kruger 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 Hockendorff J Boehm U Klamp T Dohmen RJ Levy 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 Kruger 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 nbsp This article on a gene on human chromosome 13 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title POMP amp oldid 1142727280, wikipedia, wiki, book, books, library,

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