Human Gene PPHLN1 (uc001rng.1) Description and Page Index
Description: Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA. RefSeq Summary (NM_016488): 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. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr12:42,719,947-42,842,422 Size: 122,476 Total Exon Count: 13 Strand: + Coding Region Position: hg19 chr12:42,729,705-42,840,420 Size: 110,716 Coding Exon Count: 12
ID:PPHLN_HUMAN DESCRIPTION: RecName: Full=Periphilin-1; AltName: Full=Gastric cancer antigen Ga50; FUNCTION: Involved in epithelial differentiation and contributes to epidermal integrity and barrier formation. SUBUNIT: Homodimer. Interacts with PPL. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=In undifferentiated keratinocytes expressed in speckle-type nuclear granules and at the nuclear membrane, but in the differentiated keratinocytes colocalized with periplakin at the cell periphery and at cell-cell junctions. TISSUE SPECIFICITY: Ubiquitous. PTM: Substrate of transglutaminase (in vitro). SEQUENCE CAUTION: Sequence=AAH25306.1; Type=Erroneous initiation;
Genetic Association Studies of Complex Diseases and Disorders
Respiratory Function Tests Jemma B Wilk et al. BMC medical genetics 2007, Framingham Heart Study genome-wide association: results for pulmonary function measures., BMC medical genetics.
GSTO2 and IL6R are credible candidate genes for association to pulmonary function identified by GWA. These and other observed associations warrant replication studies. This resource of GWA results for pulmonary function measures is publicly available at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF11488 - Transcriptional regulatory protein LGE1
ModBase Predicted Comparative 3D Structure on Q8NEY8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.