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    Xpnpep3 X-prolyl aminopeptidase 3, mitochondrial [ Mus musculus (house mouse) ]

    Gene ID: 321003, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Xpnpep3provided by MGI
    Official Full Name
    X-prolyl aminopeptidase 3, mitochondrialprovided by MGI
    Primary source
    MGI:MGI:2445217
    See related
    Ensembl:ENSMUSG00000022401 AllianceGenome:MGI:2445217
    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
    APP3; E430012M05Rik
    Summary
    Predicted to enable manganese ion binding activity; metalloaminopeptidase activity; and protein homodimerization activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within glomerular filtration and protein processing. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and integumental system. Human ortholog(s) of this gene implicated in nephronophthisis-like nephropathy 1. Orthologous to human XPNPEP3 (X-prolyl aminopeptidase 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 3.3), placenta adult (RPKM 2.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Xpnpep3 in Genome Data Viewer
    Location:
    15 E1; 15 38.08 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (81284282..81341683)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (81400105..81457482)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 (mitochondrial carrier, peroxisomal membrane protein), member 17 Neighboring gene STARR-positive B cell enhancer mm9_chr15:81163002-81163302 Neighboring gene STARR-seq mESC enhancer starr_39251 Neighboring gene STARR-positive B cell enhancer ABC_E2445 Neighboring gene suppression of tumorigenicity 13 Neighboring gene STARR-positive B cell enhancer ABC_E7396 Neighboring gene DnaJ heat shock protein family (Hsp40) member B7 Neighboring gene predicted gene 17025 Neighboring gene STARR-positive B cell enhancer ABC_E7397 Neighboring gene STARR-positive B cell enhancer ABC_E10870 Neighboring gene STARR-positive B cell enhancer ABC_E5497 Neighboring gene ring-box 1 Neighboring gene predicted gene 5218

    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. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. O'Toole JF, et al. J Clin Invest, 2010 Mar. PMID 20179356, Free PMC Article
    2. Ex vivo Quantitative Proteomic Analysis of Serotonin Transporter Interactome: Network Impact of the SERT Ala56 Coding Variant. Quinlan MA, et al. Front Mol Neurosci, 2020. PMID 32581705, Free PMC Article
    3. Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Mootha VK, et al. Cell, 2003 Nov 26. PMID 14651853
    4. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
    5. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article

    See all (21) 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) 
    • Targeted (2) 

    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 aminopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aminopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables manganese ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables manganese ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metalloaminopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metalloaminopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within glomerular filtration ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    xaa-Pro aminopeptidase 3
    Names
    X-Pro aminopeptidase 3
    aminopeptidase P3
    probable Xaa-Pro aminopeptidase 3
    NP_001334004.1
    NP_796284.1
    XP_030104470.1

    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_001347075.1 → NP_001334004.1  xaa-Pro aminopeptidase 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC109153, AK035269, BB663087, CK635306, EH097540
      Consensus CDS
      CCDS84182.1
      UniProtKB/Swiss-Prot
      B7ZMP1, Q8BHT9
      Related
      ENSMUSP00000132822.2, ENSMUST00000163754.9

    2. NM_177310.3 → NP_796284.1  xaa-Pro aminopeptidase 3 isoform 1

      See identical proteins and their annotated locations for NP_796284.1

      Status: VALIDATED

      Source sequence(s)
      AC109153
      Consensus CDS
      CCDS27668.1
      UniProtKB/Swiss-Prot
      B7ZMP1
      Related
      ENSMUSP00000038331.5, ENSMUST00000041609.11
      Conserved Domains (2) summary
      smart01011
      Location:67 → 206
      AMP_N; Aminopeptidase P, N-terminal domain
      cl00279
      Location:252 → 352
      APP_MetAP; A family including aminopeptidase P, aminopeptidase M, and prolidase. Also known as metallopeptidase family M24. This family of enzymes is able to cleave amido-, imido- and amidino-containing bonds. Members exibit relatively narrow substrate specificity ...

    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
      81284282..81341683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030248610.2 → XP_030104470.1  xaa-Pro aminopeptidase 3 isoform X1

      Conserved Domains (2) summary
      smart01011
      Location:15 → 127
      AMP_N; Aminopeptidase P, N-terminal domain
      cd01087
      Location:173 → 410
      Prolidase; E.C. 3.4.13.9. Also known as Xaa-Pro dipeptidase, X-Pro dipeptidase, proline dipeptidase., imidodipeptidase, peptidase D, gamma-peptidase. Catalyses hydrolysis of Xaa-Pro dipeptides; also acts on aminoacyl-hydroxyproline analogs. No action on Pro-Pro.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B7ZMP1.1 GenPept UniProtKB/Swiss-Prot:B7ZMP1

    Gene LinkOut

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