PPHLN1

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

PPHLN1
Identifiers
Aliases	PPHLN1, HSPC232, HSPC206, CR, periphilin 1
External IDs	OMIM: 608150; MGI: 1917029; HomoloGene: 9533; GeneCards: PPHLN1; OMA:PPHLN1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q12 Start 42,238,447 bp[1] End 42,459,715 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 E3 Start 93,296,231 bp[2] End 93,389,391 bp[2]
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 15: 93.3 – 93.39 Mb PubMed search [3] [4]
Wikidata
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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]