PPHLN1

PPHLN1
Identifiers
AliasesPPHLN1, HSPC232, HSPC206, CR, periphilin 1
External IDsMGI: 1917029 HomoloGene: 9533 GeneCards: PPHLN1
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12q12Start42,238,447 bp[1]
End42,459,715 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

51535

223828

Ensembl

ENSG00000134283

ENSMUSG00000036167

UniProt

Q8NEY8

Q8K2H1

RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 12: 42.24 – 42.46 MbChr 15: 93.4 – 93.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Periphilin-1 is a protein that in humans is encoded by the PPHLN1 gene.[5]

The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000134283 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036167 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: PPHLN1 periphilin 1".

Further reading

  • Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
  • Linē A, Stengrēvics A, Slucka Z, et al. (2002). "Serological identification and expression analysis of gastric cancer-associated genes". Br. J. Cancer. 86 (11): 1824–30. doi:10.1038/sj.bjc.6600321. PMC 2375403. PMID 12087473.
  • Kazerounian S, Uitto J, Aho S (2003). "Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin". Exp. Dermatol. 11 (5): 428–38. doi:10.1034/j.1600-0625.2002.110506.x. PMID 12366696.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Kazerounian S, Aho S (2003). "Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelope". J. Biol. Chem. 278 (38): 36707–17. doi:10.1074/jbc.M303896200. PMID 12853457.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Goehler H, Lalowski M, Stelzl U, et al. (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi:10.1016/j.molcel.2004.09.016. PMID 15383276.
  • Kurita M, Suzuki H, Masai H, et al. (2004). "Overexpression of CR/periphilin downregulates Cdc7 expression and induces S-phase arrest". Biochem. Biophys. Res. Commun. 324 (2): 554–61. doi:10.1016/j.bbrc.2004.09.083. PMID 15474462.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Mizrachi-Koren M, Geiger D, Indelman M, et al. (2005). "Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13". J. Invest. Dermatol. 125 (3): 456–62. doi:10.1111/j.0022-202X.2005.23777.x. PMID 16117785.
  • Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.


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