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    PEX6 peroxisomal biogenesis factor 6 [ Homo sapiens (human) ]

    Gene ID: 5190, updated on 8-Jul-2021

    Summary

    Official Symbol
    PEX6provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 6provided by HGNC
    Primary source
    HGNC:HGNC:8859
    See related
    Ensembl:ENSG00000124587 MIM:601498
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAF2; HMLR2; PAF-2; PBD4A; PDB4B; PXAAA1
    Summary
    This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
    Expression
    Ubiquitous expression in prostate (RPKM 9.4), ovary (RPKM 8.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PEX6 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (42963865..42980224, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42931603..42946919, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CNPY3-GNMT readthrough Neighboring gene canopy FGF signaling regulator 3 Neighboring gene RPL24 pseudogene 4 Neighboring gene glycine N-methyltransferase Neighboring gene male-enhanced antigen 1 Neighboring gene protein phosphatase 2 regulatory subunit B'delta Neighboring gene kelch domain containing 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ATP hydrolysis activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into peroxisome matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein import into peroxisome matrix, translocation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein targeting to peroxisome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor cell cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008370.1 RefSeqGene

      Range
      5063..20379
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000287.4NP_000278.3  peroxisome biogenesis factor 6 isoform 1

      See identical proteins and their annotated locations for NP_000278.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL158815, BC033487, BQ773648, DA462214
      Consensus CDS
      CCDS4877.1
      UniProtKB/Swiss-Prot
      Q13608
      UniProtKB/TrEMBL
      A0A024RD09
      Related
      ENSP00000303511.8, ENST00000304611.13
      Conserved Domains (3) summary
      COG0464
      Location:463967
      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:743871
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam09336
      Location:918977
      Vps4_C; Vps4 C terminal oligomerization domain
    2. NM_001316313.2NP_001303242.1  peroxisome biogenesis factor 6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 5' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB051077, AL158815, BC033487, BQ773648
      UniProtKB/Swiss-Prot
      Q13608
      Conserved Domains (3) summary
      COG0464
      Location:375879
      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:655783
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam09336
      Location:830889
      Vps4_C; Vps4 C terminal oligomerization domain

    RNA

    1. NR_133009.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction and lacks two exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB051078, AL158815, BQ773648
      Related
      ENST00000244546.4

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      42963865..42980224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514661.2XP_011512963.1  peroxisome biogenesis factor 6 isoform X1

      Conserved Domains (3) summary
      COG0464
      Location:435939
      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:715843
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam09336
      Location:890949
      Vps4_C; Vps4 C terminal oligomerization domain

    RNA

    1. XR_001743466.2 RNA Sequence

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