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

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 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

  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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.