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    Ppt2 palmitoyl-protein thioesterase 2 [ Mus musculus (house mouse) ]

    Gene ID: 54397, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Ppt2provided by MGI
    Official Full Name
    palmitoyl-protein thioesterase 2provided by MGI
    Primary source
    MGI:MGI:1860075
    See related
    Ensembl:ENSMUSG00000015474 AllianceGenome:MGI:1860075
    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
    0610007M19Rik
    Summary
    Predicted to enable palmitoyl hydrolase activity and thiolester hydrolase activity. Predicted to be active in lysosome. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and respiratory system. Used to study neuronal ceroid lipofuscinosis. Orthologous to human PPT2 (palmitoyl-protein thioesterase 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney adult (RPKM 28.5), thymus adult (RPKM 24.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    17 B1; 17 18.19 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (34835636..34856993, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (34616662..34638022, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E45 Neighboring gene STARR-positive B cell enhancer ABC_E11640 Neighboring gene ring finger protein 5 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 1 Neighboring gene EGF-like domain 8 Neighboring gene RIKEN cDNA 2610029K11 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:34767227-34767451 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:34768061-34768244 Neighboring gene proline-rich transmembrane protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E770 Neighboring gene STARR-positive B cell enhancer ABC_E4212 Neighboring gene FK506 binding protein-like Neighboring gene activating transcription factor 6 beta

    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. Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features. Gupta P, et al. Proc Natl Acad Sci U S A, 2003 Oct 14. PMID 14528005, Free PMC Article
    2. Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Gupta P, et al. Proc Natl Acad Sci U S A, 2001 Nov 20. PMID 11717424, Free PMC Article
    3. Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease. Cho SK, et al. Glycobiology, 2005 Jun. PMID 15647513
    4. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. Xie T, et al. Genome Res, 2003 Dec. PMID 14656967, Free PMC Article
    5. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article

    See all (22) 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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables palmitoyl hydrolase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables thiolester hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    lysosomal thioesterase PPT2
    NP_001289322.1
    NP_001289323.1
    NP_001289324.1
    NP_001289325.1
    NP_062314.1
    XP_006524697.1
    XP_006524701.1

    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_001302393.1 → NP_001289322.1  lysosomal thioesterase PPT2 precursor

      See identical proteins and their annotated locations for NP_001289322.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All the variants encode the same protein.
      Source sequence(s)
      BY317801, CO044617, CT009767, CX201936, CX565661
      Consensus CDS
      CCDS28652.1
      UniProtKB/Swiss-Prot
      O35448, Q80WP5
      UniProtKB/TrEMBL
      F6SPQ1
      Conserved Domains (1) summary
      pfam02089
      Location:38 → 276
      Palm_thioest; Palmitoyl protein thioesterase

    2. NM_001302394.1 → NP_001289323.1  lysosomal thioesterase PPT2 precursor

      See identical proteins and their annotated locations for NP_001289323.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All the variants encode the same protein.
      Source sequence(s)
      CJ076607, CO044617, CT009767, CX201936, CX565661
      Consensus CDS
      CCDS28652.1
      UniProtKB/Swiss-Prot
      O35448, Q80WP5
      UniProtKB/TrEMBL
      F6SPQ1
      Related
      ENSMUSP00000132006.3, ENSMUST00000166040.9
      Conserved Domains (1) summary
      pfam02089
      Location:38 → 276
      Palm_thioest; Palmitoyl protein thioesterase

    3. NM_001302395.1 → NP_001289324.1  lysosomal thioesterase PPT2 precursor

      See identical proteins and their annotated locations for NP_001289324.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All the variants encode the same protein.
      Source sequence(s)
      AK002301, CO044617, CT009767, CX201936, CX565661
      Consensus CDS
      CCDS28652.1
      UniProtKB/Swiss-Prot
      O35448, Q80WP5
      UniProtKB/TrEMBL
      F6SPQ1
      Related
      ENSMUSP00000068071.9, ENSMUST00000064953.15
      Conserved Domains (1) summary
      pfam02089
      Location:38 → 276
      Palm_thioest; Palmitoyl protein thioesterase

    4. NM_001302396.1 → NP_001289325.1  lysosomal thioesterase PPT2 precursor

      See identical proteins and their annotated locations for NP_001289325.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All the variants encode the same protein.
      Source sequence(s)
      CO044617, CT009767, CX201936, CX202053, CX217389
      Consensus CDS
      CCDS28652.1
      UniProtKB/Swiss-Prot
      O35448, Q80WP5
      UniProtKB/TrEMBL
      F6SPQ1
      Related
      ENSMUSP00000127745.3, ENSMUST00000171121.9
      Conserved Domains (1) summary
      pfam02089
      Location:38 → 276
      Palm_thioest; Palmitoyl protein thioesterase

    5. NM_019441.5 → NP_062314.1  lysosomal thioesterase PPT2 precursor

      See identical proteins and their annotated locations for NP_062314.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All the variants encode the same protein.
      Source sequence(s)
      AK002301, CO044617, CT009767, CX201936, CX221820, CX565661
      Consensus CDS
      CCDS28652.1
      UniProtKB/Swiss-Prot
      O35448, Q80WP5
      UniProtKB/TrEMBL
      F6SPQ1
      Related
      ENSMUSP00000131243.2, ENSMUST00000171376.8
      Conserved Domains (1) summary
      pfam02089
      Location:38 → 276
      Palm_thioest; Palmitoyl protein thioesterase

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      34835636..34856993 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524638.4 → XP_006524701.1  lysosomal thioesterase PPT2 isoform X2

      See identical proteins and their annotated locations for XP_006524701.1

      UniProtKB/Swiss-Prot
      O35448, Q80WP5
      UniProtKB/TrEMBL
      F6SPQ1
      Conserved Domains (1) summary
      pfam02089
      Location:38 → 276
      Palm_thioest; Palmitoyl protein thioesterase

    2. XM_006524634.5 → XP_006524697.1  lysosomal thioesterase PPT2 isoform X1

      See identical proteins and their annotated locations for XP_006524697.1

      Conserved Domains (1) summary
      pfam02089
      Location:54 → 292
      Palm_thioest; Palmitoyl protein thioesterase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O35448.1 GenPept UniProtKB/Swiss-Prot:O35448

    Gene LinkOut

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

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