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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

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