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    PPHLN1 periphilin 1 [ Homo sapiens ]

    Gene ID: 51535, updated on 11-May-2012
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    Summary

    Official Symbol
    PPHLN1provided by HGNC
    Official Full Name
    periphilin 1provided by HGNC
    Primary source
    HGNC:19369
    Locus tag
    HSPC206
    See related
    Ensembl:ENSG00000134283; HPRD:10488; MIM:608150; Vega:OTTHUMG00000169440
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSPC206; HSPC232; MGC48786
    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]
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    Genomic context

    Location :
    12q12
    Sequence :
    Chromosome: 12; NC_000012.11 (42719947..42842422)
    See PPHLN1 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene insulin-like growth factor 2 mRNA binding protein 2 pseudogene Neighboring gene zinc finger CCHC-type and RNA binding motif 1 Neighboring gene fragile X mental retardation, autosomal homolog 1 pseudogene Neighboring gene prickle homolog 1 (Drosophila) Neighboring gene CDGSH iron sulfur domain 1 pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    4. Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease. Soehn AS, et al. Neurogenetics, 2010 May. PMID 19730898.
    5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348.

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data show that periphilin displays an overlapping expression pattern with synphilin-1 in cellular and animal models and in Lewy bodies of Parkinson's disease (PD) patients, and support involvement of periphilin in PD.
      Title: Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. CR (periphilin) retards S-phase progression by modifying expression of Cdc7 and other genes involved in progression of DNA replication
      Title: Overexpression of CR/periphilin downregulates Cdc7 expression and induces S-phase arrest.
    4. periphilin is potentially involved in epithelial differentiation and contributes to epidermal integrity and barrier formation
      Title: Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelope.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q8NEY8 P51878 CASP5    HPRD  PubMed  
    Q8NEY8 Q8NEY8 PPHLN1    HPRD  PubMed  
    Q8NEY8 O60437 PPL    HPRD  PubMed  
    Q8NEY8 P21980 TGM2    HPRD  PubMed  
    Q8NEY8 Q15388 TOMM20    HPRD  PubMed  
    Q8NEY8 P08670 VIM    HPRD  PubMed  
    BioGRID:119596 BioGRID:107070 BCL2L1    BioGRID  PubMed Two-hybrid 
    BioGRID:119596 BioGRID:107288 CASP5    BioGRID  PubMed Biochemical Activity 
    BioGRID:119596 BioGRID:116312 CDC37    BioGRID  PubMed Two-hybrid 
    BioGRID:119596 BioGRID:109314 HTT    BioGRID  PubMed Two-hybrid 
    BioGRID:119596 BioGRID:120728 NAGK    BioGRID  PubMed Two-hybrid 
    BioGRID:119596 BioGRID:111488 PPL    BioGRID  PubMed Two-hybrid 
    BioGRID:119596 BioGRID:116788 SEPT8    BioGRID  PubMed Two-hybrid 
    BioGRID:119596 BioGRID:114397 SQSTM1    BioGRID  PubMed Two-hybrid 
    BioGRID:119596 BioGRID:115144 TOMM20    BioGRID  PubMed Two-hybrid 
    BioGRID:119596 BioGRID:113012 TP53BP2    BioGRID  PubMed Two-hybrid 
    BioGRID:119596 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119596 BioGRID:113200 UFD1L    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    keratinization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    periphilin-1
    Names
    periphilin-1
    gastric cancer antigen Ga50
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001143787.1 → NP_001137259.1  periphilin-1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (6) has the same N- and C-termini but is shorter compared to isoform 1.z
      Source sequence(s)
      AC079601, AK129910, BC025306
      Consensus CDS
      CCDS44860.1
      UniProtKB/Swiss-Prot
      Q8NEY8
      Related
      ENSP00000393965, OTTHUMP00000241118, ENST00000432191, OTTHUMT00000404054
      Conserved Domains (1) summary
      pfam11488
      Location:230 – 286
      Blast Score: 84
      Lge1; Transcriptional regulatory protein LGE1

    2. NM_001143788.1 → NP_001137260.1  periphilin-1 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate in-frame exon and has multiple differences in the 3' region when compared to variant 1. The resulting isoform (7) has a distinct and shorter C-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AK129910, AK308022, AY039238, BM995486, CA444170
      Consensus CDS
      CCDS44861.1
      UniProtKB/TrEMBL
      E9PAX8
      UniProtKB/Swiss-Prot
      Q8NEY8
      Related
      ENSP00000390681, OTTHUMP00000241115, ENST00000449194, OTTHUMT00000404049
      Conserved Domains (1) summary
      pfam11488
      Location:266 – 322
      Blast Score: 87
      Lge1; Transcriptional regulatory protein LGE1

    3. NM_001143789.1 → NP_001137261.1  periphilin-1 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks two alternate in-frame exons and has multiple differences in the 3' region when compared to variant 1. The resulting isoform (8) has a distinct and shorter C-terminus and lacks two internal segments compared to isoform 1.
      Source sequence(s)
      AK129910, AK308022, BM995486, CA444170, DC424443
      Conserved Domains (1) summary
      pfam11488
      Location:211 – 267
      Blast Score: 82
      Lge1; Transcriptional regulatory protein LGE1

    4. NM_016488.6 → NP_057572.5  periphilin-1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC079601, AK129910, AY039238
      Consensus CDS
      CCDS31777.1
      UniProtKB/Swiss-Prot
      Q8NEY8
      Related
      ENSP00000378935, OTTHUMP00000241113, ENST00000395568, OTTHUMT00000404047
      Conserved Domains (1) summary
      pfam11488
      Location:285 – 341
      Blast Score: 87
      Lge1; Transcriptional regulatory protein LGE1

    5. NM_201438.1 → NP_958846.1  periphilin-1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences compared to variant 1. The resulting isoform (5) has distinct N- and C-termini, as compared to isoform 1.
      Source sequence(s)
      AK129910, BC039832
      UniProtKB/Swiss-Prot
      Q8NEY8

    6. NM_201439.1 → NP_958847.1  periphilin-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the 3' region compared to variant 1. The resulting isoform (3) has a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AK129910, AY157850, CA444170, CF242917
      Consensus CDS
      CCDS8741.1
      UniProtKB/Swiss-Prot
      Q8NEY8
      Related
      ENSP00000351066, OTTHUMP00000241110, ENST00000358314, OTTHUMT00000404042
      Conserved Domains (1) summary
      pfam11488
      Location:285 – 341
      Blast Score: 87
      Lge1; Transcriptional regulatory protein LGE1

    7. NM_201440.1 → NP_958848.1  periphilin-1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences compared to variant 1. The resulting isoform (4) has distinct N- and C-termini, as compared to isoform 1.
      Source sequence(s)
      AK129910, AY157850, CA444170
      Consensus CDS
      CCDS55817.1
      UniProtKB/Swiss-Prot
      Q8NEY8
      Related
      ENSP00000449331, OTTHUMP00000241116, ENST00000552761, OTTHUMT00000404050
      Conserved Domains (1) summary
      pfam11488
      Location:237 – 293
      Blast Score: 82
      Lge1; Transcriptional regulatory protein LGE1

    8. NM_201515.1 → NP_958923.1  periphilin-1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 5' region and has multiple differences in the 3' region when compared to variant 1. The resulting isoform (2) has a longer N-terminus and a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AK129910, CA444170
      Consensus CDS
      CCDS41773.1
      UniProtKB/Swiss-Prot
      Q8NEY8
      Related
      ENSP00000378947, OTTHUMP00000241108, ENST00000395580, OTTHUMT00000404040
      Conserved Domains (1) summary
      pfam11488
      Location:292 – 348
      Blast Score: 87
      Lge1; Transcriptional regulatory protein LGE1

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      42719947..42842422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      39746824..39869220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC079601.25 (37930..94196) None
    genomic AC079684.16 None
    genomic CH471111.1 EAW57845.1
      EAW57846.1
      EAW57847.1
      EAW57848.1
      EAW57849.1
      EAW57850.1
      EAW57851.1
      EAW57852.1
      EAW57853.1
    mRNA AF151040.1 AAF36126.1
    mRNA AF151066.1 AAF36152.1
    mRNA AK000186.1 BAA90996.1
    mRNA AK055690.1 BAB70985.1
    mRNA AK056622.1 None
    mRNA AK124921.1 None
    mRNA AK129910.1 None
    mRNA AK299951.1 BAH13181.1
    mRNA AK303612.1 BAH13997.1
    mRNA AK303680.1 BAH14015.1
    mRNA AK308022.1 None
    mRNA AY039238.1 AAK68657.1
    mRNA AY157850.1 AAO16497.1
    mRNA BC015322.1 None
    mRNA BC025306.1 AAH25306.1
    mRNA BC039832.1 AAH39832.1
    mRNA BC040449.1 None
    mRNA BM995486.1 None
    mRNA BQ081957.1 None
    mRNA BX647697.1 None
    mRNA CA444170.1 None
    mRNA CF242917.1 None
    mRNA DC424443.1 None
    mRNA R89350.1 None
    other-genetic HQ448511.1 ADQ32990.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEY8.2 GenPept UniProtKB/Swiss-Prot:Q8NEY8
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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