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    PEX3 peroxisomal biogenesis factor 3 [ Homo sapiens (human) ]

    Gene ID: 8504, updated on 8-Jul-2021

    Summary

    Official Symbol
    PEX3provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 3provided by HGNC
    Primary source
    HGNC:HGNC:8858
    See related
    Ensembl:ENSG00000034693 MIM:603164
    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
    TRG18; PBD10A; PBD10B
    Summary
    The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 15.6), thyroid (RPKM 9.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PEX3 in Genome Data Viewer
    Location:
    6q24.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (143450805..143490616)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (143771942..143811753)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene adenosine deaminase tRNA specific 2 Neighboring gene tubulin beta 8 class VIII pseudogene 2 Neighboring gene RNA, 5S ribosomal pseudogene 221 Neighboring gene voltage dependent anion channel 1 pseudogene 8 Neighboring gene alpha-L-fucosidase 2 Neighboring gene uncharacterized LOC105378035

    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

    Clone Names

    • FLJ13531, DKFZp686N14184

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in peroxisome membrane biogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into peroxisome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein import into peroxisome membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    peroxisomal biogenesis factor 3
    Names
    peroxin-3
    peroxisomal assembly protein PEX3
    transformation-related protein 18

    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_008459.1 RefSeqGene

      Range
      5025..44836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003630.3NP_003621.1  peroxisomal biogenesis factor 3

      See identical proteins and their annotated locations for NP_003621.1

      Status: REVIEWED

      Source sequence(s)
      AL031320, AU137342, BC015506, BP377713, DB576209
      Consensus CDS
      CCDS5199.1
      UniProtKB/Swiss-Prot
      P56589
      Related
      ENSP00000356563.4, ENST00000367591.5
      Conserved Domains (1) summary
      pfam04882
      Location:11362
      Peroxin-3; Peroxin-3

    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
      143450805..143490616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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