• Gene id: 51535

Gene Summary

• Gene Symbol: PPHLN1   Gene   UCSC   Ensembl
• Aliases: CR, HSPC206, HSPC232
• Gene name: periphilin 1
• Alternate names: periphilin-1, CDC7 expression repressor, gastric cancer antigen Ga50,
• Gene location: 12q12 (42326125: 42448620)     Exons: 16     NC_000012.12
• Gene summary(Entrez): 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 peripl
• OMIM: 608150

Protein Summary

• Protein general information: Q8NEY8  
  • Name: Periphilin 1 (CDC7 expression repressor) (CR) (Gastric cancer antigen Ga50)
  • Length: 458  
  • Mass: 52737
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MWSEGRYEYERIPRERAPPRSHPSDGYNRLVNIVPKKPPLLDRPGEGSYNRYYSHVDYRDYDEGRSFSHDRRSGP
  PHRGDESGYRWTRDDHSASRQPEYRDMRDGFRRKSFYSSHYARERSPYKRDNTFFRESPVGRKDSPHSRSGSSVS
  SRSYSPERSKSYSFHQSQHRKSVRPGASYKRQNEGNPERDKERPVQSLKTSRDTSPSSGSAVSSSKVLDKPSRLT
  EKELAEAASKWAAEKLEKSDESNLPEISEYEAGSTAPLFTDQPEEPESNTTHGIELFEDSQLTTRSKAIASKTKE
  IEQVYRQDCETFGMVVKMLIEKDPSLEKSIQFALRQNLHEIESAGQTWQQVPPVRNTEMDHDGTPENEGEETAQS
  APQPPQAPQPLQPRKKRVRRTTQLRRTTGAPDITWGMLKKTTQEAERILLRTQTPFTPENLFLAMLSVVHCNSRK
  DVKPENKQ

• Structural information:
  • Interpro: IPR028851  
  • DIP: 49051
  • STRING: ENSP00000378935
• Other Databases: GeneCards:  PPHLN1  Malacards:  PPHLN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090309	positive regulation of DNA methylation-dependent heterochromatin assembly	IDA	biological process
GO:0097355	protein localization to heterochromatin	IDA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IDA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0031424	keratinization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881