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    Pphln1 periphilin 1 [ Mus musculus (house mouse) ]

    Gene ID: 223828, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Pphln1provided by MGI
    Official Full Name
    periphilin 1provided by MGI
    Primary source
    MGI:MGI:1917029
    See related
    Ensembl:ENSMUSG00000036167 AllianceGenome:MGI:1917029
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CR; HSPC206; HSPC232
    Summary
    Predicted to be involved in negative regulation of gene expression, epigenetic; positive regulation of DNA methylation-dependent heterochromatin assembly; and protein localization to heterochromatin. Predicted to act upstream of or within keratinization. Predicted to be located in Golgi apparatus and cytosol. Predicted to be active in nucleoplasm. Is expressed in several structures, including brain; future spinal cord; ganglia; genital tubercle; and sensory organ. Orthologous to human PPHLN1 (periphilin 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 8.0), limb E14.5 (RPKM 5.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    15 E3; 15 47.55 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (93296243..93389794)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (93398345..93491913)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26371 Neighboring gene STARR-seq mESC enhancer starr_39524 Neighboring gene STARR-positive B cell enhancer ABC_E11788 Neighboring gene zinc finger CCHC-type and RNA binding motif 1 Neighboring gene predicted gene, 30181 Neighboring gene STARR-seq mESC enhancer starr_39526 Neighboring gene STARR-seq mESC enhancer starr_39528 Neighboring gene STARR-seq mESC enhancer starr_39531 Neighboring gene prickle planar cell polarity protein 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:93382836-93383019 Neighboring gene STARR-seq mESC enhancer starr_39536 Neighboring gene STARR-seq mESC enhancer starr_39537 Neighboring gene STARR-seq mESC enhancer starr_39538 Neighboring gene predicted gene, 41385

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. CR/periphilin is a transcriptional co-repressor involved in cell cycle progression. Kurita M, et al. Biochem Biophys Res Commun, 2007 Dec 28. PMID 17963697
    2. Overexpression of CR/periphilin downregulates Cdc7 expression and induces S-phase arrest. Kurita M, et al. Biochem Biophys Res Commun, 2004 Nov 12. PMID 15474462
    3. Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease. Soehn AS, et al. Neurogenetics, 2010 May. PMID 19730898
    4. Periphilin is strongly expressed in the murine nervous system and is indispensable for murine development. Soehn AS, et al. Genesis, 2009 Oct. PMID 19621438
    5. Dual role of Fam208a during zygotic cleavage and early embryonic development. Gresakova V, et al. Exp Cell Res, 2021 Sep 15. PMID 34216590

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1)  1 citation
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC27795, 1110063K05Rik, 1600022A19Rik

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within keratinization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of gene expression, epigenetic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of gene expression, epigenetic ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of DNA methylation-dependent heterochromatin formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to heterochromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to heterochromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    periphilin-1
    Names
    gastric cancer antigen Ga50

    NCBI Reference Sequences (RefSeq)

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    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_001083114.2 → NP_001076583.1  periphilin-1 isoform 3

      See identical proteins and their annotated locations for NP_001076583.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1. Both variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AC126556
      Consensus CDS
      CCDS37181.1
      UniProtKB/TrEMBL
      B9EKE4, G3UWD4, Q3TYM7
      Related
      ENSMUSP00000104879.4, ENSMUST00000109256.11
      Conserved Domains (1) summary
      pfam11488
      Location:221 → 277
      Lge1; Transcriptional regulatory protein LGE1

    2. NM_001285863.2 → NP_001272792.1  periphilin-1 isoform 3

      See identical proteins and their annotated locations for NP_001272792.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks two alternate in-frame exons in the coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1. Both variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AC126556
      Consensus CDS
      CCDS37181.1
      UniProtKB/TrEMBL
      B9EKE4, G3UWD4, Q3TYM7
      Related
      ENSMUSP00000131121.2, ENSMUST00000165935.2
      Conserved Domains (1) summary
      pfam11488
      Location:221 → 277
      Lge1; Transcriptional regulatory protein LGE1

    3. NM_001285864.2 → NP_001272793.1  periphilin-1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks alternate in-frame exons in the coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
      Source sequence(s)
      AC126556
      UniProtKB/TrEMBL
      B9EKE4, Q3TYM7
      Conserved Domains (1) summary
      pfam11488
      Location:157 → 233
      Lge1; Transcriptional regulatory protein LGE1

    4. NM_001358748.2 → NP_001345677.1  periphilin-1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon in the coding region, compared to variant 1. The encoded isoform (5) is shorter, compared to isoform 1.
      Source sequence(s)
      AC126556
      UniProtKB/Swiss-Prot
      Q8BUZ6, Q8K2H1
      Conserved Domains (1) summary
      pfam11488
      Location:275 → 346
      Lge1; Transcriptional regulatory protein LGE1

    5. NM_001358749.2 → NP_001345678.1  periphilin-1 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) contains an alternate exon in the 5' UTR, lacks a portion of the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (6) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC126556
      UniProtKB/TrEMBL
      B9EKE4, Q3TYM7
      Conserved Domains (1) summary
      pfam11488
      Location:236 → 307
      Lge1; Transcriptional regulatory protein LGE1

    6. NM_001358750.2 → NP_001345679.1  periphilin-1 isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks alternate in-frame exons in the coding region, compared to variant 1. The encoded isoform (7) is shorter, compared to isoform 1.
      Source sequence(s)
      AC126556
      UniProtKB/TrEMBL
      Q3TYM7
      Conserved Domains (1) summary
      pfam11488
      Location:166 → 237
      Lge1; Transcriptional regulatory protein LGE1

    7. NM_001416222.1 → NP_001403151.1  periphilin-1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC126556

    8. NM_001416223.1 → NP_001403152.1  periphilin-1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC126556

    9. NM_001416224.1 → NP_001403153.1  periphilin-1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC126556

    10. NM_001416225.1 → NP_001403154.1  periphilin-1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC126556

    11. NM_001416226.1 → NP_001403155.1  periphilin-1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC126556
      UniProtKB/TrEMBL
      G3X959

    12. NM_001416227.1 → NP_001403156.1  periphilin-1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC126556
      UniProtKB/TrEMBL
      G3X959

    13. NM_001416228.1 → NP_001403157.1  periphilin-1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC126556

    14. NM_001416229.1 → NP_001403158.1  periphilin-1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC126556

    15. NM_001416230.1 → NP_001403159.1  periphilin-1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC126556

    16. NM_001416231.1 → NP_001403160.1  periphilin-1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC126556

    17. NM_001416232.1 → NP_001403161.1  periphilin-1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC126556

    18. NM_001416233.1 → NP_001403162.1  periphilin-1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC126556

    19. NM_001416234.1 → NP_001403163.1  periphilin-1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC126556

    20. NM_001416235.1 → NP_001403164.1  periphilin-1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC126556

    21. NM_001416236.1 → NP_001403165.1  periphilin-1 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC126556

    22. NM_001416237.1 → NP_001403166.1  periphilin-1 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC126556

    23. NM_001416238.1 → NP_001403167.1  periphilin-1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC126556
      UniProtKB/TrEMBL
      Q3UBL8

    24. NM_001416239.1 → NP_001403168.1  periphilin-1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC126556
      UniProtKB/TrEMBL
      Q3UBL8

    25. NM_001416240.1 → NP_001403169.1  periphilin-1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC126556
      UniProtKB/TrEMBL
      G3UWD4
      Related
      ENSMUSP00000154876.2, ENSMUST00000229071.2

    26. NM_001416241.1 → NP_001403170.1  periphilin-1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC126556
      UniProtKB/TrEMBL
      G3UWD4

    27. NM_001416256.1 → NP_001403185.1  periphilin-1 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC126556

    28. NM_001416257.1 → NP_001403186.1  periphilin-1 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC126556

    29. NM_001416258.1 → NP_001403187.1  periphilin-1 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC126556

    30. NM_001416259.1 → NP_001403188.1  periphilin-1 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC126556

    31. NM_001416260.1 → NP_001403189.1  periphilin-1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC126556

    32. NM_001416266.1 → NP_001403195.1  periphilin-1 isoform 18

      Status: VALIDATED

      Source sequence(s)
      AC126556

    33. NM_001416267.1 → NP_001403196.1  periphilin-1 isoform 18

      Status: VALIDATED

      Source sequence(s)
      AC126556

    34. NM_001416268.1 → NP_001403197.1  periphilin-1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC126556

    35. NM_001416273.1 → NP_001403202.1  periphilin-1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC126556

    36. NM_001416275.1 → NP_001403204.1  periphilin-1 isoform 19

      Status: VALIDATED

      Source sequence(s)
      AC126556

    37. NM_001416277.1 → NP_001403206.1  periphilin-1 isoform 20

      Status: VALIDATED

      Source sequence(s)
      AC126556

    38. NM_001416278.1 → NP_001403207.1  periphilin-1 isoform 21

      Status: VALIDATED

      Source sequence(s)
      AC126556

    39. NM_001416279.1 → NP_001403208.1  periphilin-1 isoform 21

      Status: VALIDATED

      Source sequence(s)
      AC126556

    40. NM_146062.4 → NP_666174.2  periphilin-1 isoform 1

      See identical proteins and their annotated locations for NP_666174.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC126556
      Consensus CDS
      CCDS27767.1
      UniProtKB/Swiss-Prot
      Q8BUZ6, Q8K2H1
      UniProtKB/TrEMBL
      G3X959
      Related
      ENSMUSP00000042762.9, ENSMUST00000049122.16
      Conserved Domains (1) summary
      pfam11488
      Location:291 → 367
      Lge1; Transcriptional regulatory protein LGE1

    41. NM_175363.5 → NP_780572.1  periphilin-1 isoform 2

      See identical proteins and their annotated locations for NP_780572.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC126556
      Consensus CDS
      CCDS27768.1
      UniProtKB/TrEMBL
      B9EKE4, Q3TYM7, Q3UBL8
      Related
      ENSMUSP00000068165.8, ENSMUST00000068457.15
      Conserved Domains (1) summary
      pfam11488
      Location:222 → 298
      Lge1; Transcriptional regulatory protein LGE1

    RNA

    1. NR_183628.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC126556

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      93296243..93389794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006520861.4 → XP_006520924.1  periphilin-1 isoform X10

      UniProtKB/TrEMBL
      B9EKE4, Q3TYM7
      Conserved Domains (1) summary
      pfam11488
      Location:176 → 252
      Lge1; Transcriptional regulatory protein LGE1
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K2H1.1 GenPept UniProtKB/Swiss-Prot:Q8K2H1

    Gene LinkOut

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

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