PPHLN1

Protein-coding gene in the species Homo sapiens
PPHLN1
Identifiers
AliasesPPHLN1, HSPC232, HSPC206, CR, periphilin 1
External IDsOMIM: 608150; MGI: 1917029; HomoloGene: 9533; GeneCards: PPHLN1; OMA:PPHLN1 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for PPHLN1
Genomic location for PPHLN1
Band12q12Start42,238,447 bp[1]
End42,459,715 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for PPHLN1
Genomic location for PPHLN1
Band15|15 E3Start93,296,231 bp[2]
End93,389,391 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • pancreatic ductal cell

  • oocyte

  • secondary oocyte

  • germinal epithelium

  • mucosa of paranasal sinus

  • palpebral conjunctiva

  • Achilles tendon

  • Brodmann area 23

  • epithelium of nasopharynx

  • gingival epithelium
Top expressed in
  • tail of embryo

  • genital tubercle

  • zygote

  • spermatid

  • hand

  • epiblast

  • seminiferous tubule

  • primitive streak

  • secondary oocyte

  • embryo
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
  • RNA binding
Cellular component
  • Golgi apparatus
  • nucleus
  • nucleoplasm
  • chromosome
  • cytoplasm
  • cytosol
Biological process
  • keratinization
  • regulation of transcription, DNA-templated
  • transcription, DNA-templated
  • negative regulation of gene expression, epigenetic
  • negative regulation of transcription, DNA-templated
  • positive regulation of DNA methylation-dependent heterochromatin assembly
  • protein localization to heterochromatin
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

51535

223828

Ensembl

ENSG00000134283

ENSMUSG00000036167

UniProt

Q8NEY8

Q8K2H1

RefSeq (mRNA)
NM_001143787
NM_001143788
NM_001143789
NM_016488
NM_201438

NM_201439
NM_201440
NM_201515
NM_001364822
NM_001364823
NM_001364824
NM_001364825
NM_001364826
NM_001364827
NM_001364828
NM_001364829
NM_001364830
NM_001364831
NM_001364832
NM_001364833
NM_001364834

NM_001083114
NM_001285863
NM_001285864
NM_146062
NM_175363

NM_001358748
NM_001358749
NM_001358750

RefSeq (protein)
NP_001137259
NP_001137260
NP_001137261
NP_057572
NP_958846

NP_958847
NP_958848
NP_958923
NP_001351751
NP_001351752
NP_001351753
NP_001351754
NP_001351755
NP_001351756
NP_001351757
NP_001351758
NP_001351759
NP_001351760
NP_001351761
NP_001351762
NP_001351763

NP_001076583
NP_001272792
NP_001272793
NP_666174
NP_780572

NP_001345677
NP_001345678
NP_001345679

Location (UCSC)Chr 12: 42.24 – 42.46 MbChr 15: 93.3 – 93.39 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000134283 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036167 – 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. ^ a b "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. S2CID 25735126.
  • 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. Bibcode:2002PNAS...9916899M. 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. S2CID 14294292.
  • 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. S2CID 7827573.


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