Homo sapiens Gene: PPHLN1
Summary
InnateDB Gene IDBG-27733.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PPHLN1
Gene Name periphilin 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000134283
Encoded Proteins
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
periphilin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:42238447-42459715
Strand Forward strand
Band q12
Transcripts
ENST00000337898 ENSP00000338510
ENST00000256678 ENSP00000256678
ENST00000358314 ENSP00000351066
ENST00000317560 ENSP00000322048
ENST00000395580 ENSP00000378947
ENST00000395568 ENSP00000378935
ENST00000432191 ENSP00000393965
ENST00000449194 ENSP00000390681
ENST00000549190 ENSP00000447168
ENST00000549774
ENST00000551723 ENSP00000450346
ENST00000552429 ENSP00000448645
ENST00000552761 ENSP00000449331
ENST00000551406
ENST00000552202
ENST00000550535
ENST00000546750 ENSP00000450274
ENST00000547847 ENSP00000449772
ENST00000551658 ENSP00000449031
ENST00000552794
ENST00000547696
ENST00000547440
ENST00000624028
ENST00000613154 ENSP00000478872
ENST00000610488 ENSP00000479913
ENST00000619544 ENSP00000477681
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 32 experimentally validated interaction(s) in this database.
Experimentally validated
Total 32 [view]
Protein-Protein 32 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0044822 poly(A) RNA binding
Biological Process
GO:0031424 keratinization
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.635855
RefSeq NM_001143787 NM_001143788 NM_001143789 NM_016488 NM_201438 NM_201439 NM_201440 NM_201515 XM_005268964 XM_005268965 XM_006719453
HUGO
OMIM
CCDS CCDS31777 CCDS41773 CCDS44860 CCDS44861 CCDS55817 CCDS8741
HPRD 10488
IMGT
EMBL
GenPept
RNA Seq Atlas