Format

Send to:

Choose Destination
    • Showing Current items.

    PEX12 peroxisomal biogenesis factor 12 [ Homo sapiens (human) ]

    Gene ID: 5193, updated on 7-Aug-2021

    Summary

    Official Symbol
    PEX12provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 12provided by HGNC
    Primary source
    HGNC:HGNC:8854
    See related
    Ensembl:ENSG00000108733 MIM:601758
    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
    PAF-3; PBD3A
    Summary
    This gene belongs to the peroxin-12 family. 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 of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
    Expression
    Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PEX12 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (35574795..35578571, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33901814..33905590, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L39 pseudogene 32 Neighboring gene small nucleolar RNA host gene 30 Neighboring gene small nucleolar RNA, C/D box 7 Neighboring gene transmembrane protein 160 pseudogene Neighboring gene adaptor related protein complex 2 subunit beta 1 Neighboring gene ribosomal protein L17 pseudogene 42

    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 protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables zinc ion binding IMP
    Inferred from Mutant Phenotype
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into peroxisome matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein monoubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein targeting to peroxisome NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    peroxisome assembly protein 12
    Names
    peroxin 12
    peroxisome assembly factor 3

    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_008447.1 RefSeqGene

      Range
      5067..8843
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000286.3NP_000277.1  peroxisome assembly protein 12

      See identical proteins and their annotated locations for NP_000277.1

      Status: REVIEWED

      Source sequence(s)
      AI341587, BC031085, DA298874, U91521
      Consensus CDS
      CCDS11296.1
      UniProtKB/Swiss-Prot
      O00623
      Related
      ENSP00000225873.3, ENST00000225873.9
      Conserved Domains (2) summary
      smart00184
      Location:304341
      RING; Ring finger
      pfam04757
      Location:26267
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    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_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      35574795..35578571 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center