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    Pex6 peroxisomal biogenesis factor 6 [ Mus musculus (house mouse) ]

    Gene ID: 224824, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Pex6provided by MGI
    Official Full Name
    peroxisomal biogenesis factor 6provided by MGI
    Primary source
    MGI:MGI:2385054
    See related
    Ensembl:ENSMUSG00000002763 AllianceGenome:MGI:2385054
    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
    PAF-2; D130055I09Rik
    Summary
    Predicted to enable ATP binding activity; ATP hydrolysis activity; and protein C-terminus binding activity. Predicted to be involved in protein import into peroxisome matrix, translocation and protein stabilization. Located in photoreceptor cell cilium. Is expressed in brain; embryo; liver; and metanephros. Human ortholog(s) of this gene implicated in Heimler syndrome 2; peroxisomal biogenesis disorder; and peroxisome biogenesis disorder 4A. Orthologous to human PEX6 (peroxisomal biogenesis factor 6). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 85.9), ovary adult (RPKM 56.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pex6 in Genome Data Viewer
    Location:
    17 C; 17 22.9 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (47022402..47036469)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (46711476..46725543)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_42676 Neighboring gene STARR-positive B cell enhancer mm9_chr17:46817738-46818039 Neighboring gene kelch domain containing 3 Neighboring gene male enhanced antigen 1 Neighboring gene protein phosphatase 2, regulatory subunit B', delta Neighboring gene STARR-positive B cell enhancer ABC_E7538 Neighboring gene glycine N-methyltransferase Neighboring gene canopy FGF signaling regulator 3 Neighboring gene STARR-positive B cell enhancer ABC_E2490 Neighboring gene STARR-positive B cell enhancer ABC_E3204

    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. PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Zaki MS, et al. Hum Mutat, 2016 Feb. PMID 26593283
    2. Identification of novel Smad binding proteins. Warner DR, et al. Biochem Biophys Res Commun, 2003 Dec 26. PMID 14651998
    3. Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver. Liu SP, et al. Hepatology, 2007 Nov. PMID 17937387
    4. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article
    5. Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function. Zhang T, et al. Sci Rep, 2017 Apr 5. PMID 28378742, Free PMC Article

    See all (20) 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)
    • Endonuclease-mediated (3) 

    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

    Clone Names

    • MGC6455, KIAA4177

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP hydrolysis activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin-modified protein reader activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in peroxisome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein import into peroxisome matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein import into peroxisome matrix, receptor recycling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein import into peroxisome matrix, translocation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein stabilization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein targeting to peroxisome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein unfolding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in peroxisomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor cell cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor cell cilium ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    peroxisomal ATPase PEX6
    Names
    peroxin-6
    peroxisomal-type ATPase 1
    peroxisome assembly factor 2

    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_145488.2 → NP_663463.1  peroxisomal ATPase PEX6

      See identical proteins and their annotated locations for NP_663463.1

      Status: VALIDATED

      Source sequence(s)
      CT030702
      Consensus CDS
      CCDS28837.1
      UniProtKB/Swiss-Prot
      Q6YNQ9, Q99LC9
      UniProtKB/TrEMBL
      Q5DTJ5
      Related
      ENSMUSP00000002840.9, ENSMUST00000002840.9
      Conserved Domains (2) summary
      COG0464
      Location:464 → 968
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      pfam00004
      Location:744 → 872
      AAA; ATPase family associated with various cellular activities (AAA)

    RNA

    1. NR_157369.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK143173, AK220525, CT030702
      Related
      ENSMUST00000144964.8

    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
      47022402..47036469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99LC9.1 GenPept UniProtKB/Swiss-Prot:Q99LC9

    Gene LinkOut

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

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