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    PEX19 peroxisomal biogenesis factor 19 [ Homo sapiens (human) ]

    Gene ID: 5824, updated on 22-May-2018
    Official Symbol
    PEX19provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 19provided by HGNC
    Primary source
    HGNC:HGNC:9713
    See related
    Ensembl:ENSG00000162735 MIM:600279; Vega:OTTHUMG00000033112
    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
    PXF; HK33; PMP1; PMPI; PXMP1; PBD12A; D1S2223E
    Summary
    This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). 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. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some 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), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
    Expression
    Ubiquitous expression in fat (RPKM 51.2), thyroid (RPKM 26.4) and 24 other tissues See more
    Orthologs
    See PEX19 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (160276809..160285151, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160246599..160254941, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DDB1 and CUL4 associated factor 8 Neighboring gene uncharacterized LOC100287049 Neighboring gene ribosomal protein SA pseudogene 18 Neighboring gene uncharacterized LOC107985219 Neighboring gene coatomer protein complex subunit alpha Neighboring gene SUMO1 pseudogene 3 Neighboring gene nicastrin

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • ABC transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
      ABC transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Peroxisome, organism-specific biosystem (from KEGG)
      Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    • Peroxisome, conserved biosystem (from KEGG)
      Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: DCAF8

    Homology

    Clone Names

    • FLJ55296

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    peroxisome membrane class-1 targeting sequence binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    chaperone-mediated protein folding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chaperone-mediated protein transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    establishment of protein localization to peroxisome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of lipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peroxisome organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein import into peroxisome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein targeting to peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein targeting to peroxisome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    brush border membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    peroxisomal membrane HDA PubMed 
    peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    peroxisomal biogenesis factor 19
    Names
    33 kDa housekeeping protein
    housekeeping gene, 33kD
    peroxin-19
    peroxisomal farnesylated protein

    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_008637.1 RefSeqGene

      Range
      5001..13343
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193644.1NP_001180573.1  peroxisomal biogenesis factor 19 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as PxFpdelta8 or PEX19pdeltaE8) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform a.
      Source sequence(s)
      AB062286, AL513282, BC064979, CD557913, DC400252
      UniProtKB/Swiss-Prot
      P40855
      Conserved Domains (1) summary
      pfam04614
      Location:74274
      Pex19; Pex19 protein family
    2. NM_002857.3NP_002848.1  peroxisomal biogenesis factor 19 isoform a

      See identical proteins and their annotated locations for NP_002848.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as PxFall or PEX19all) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL513282, BC064979, DC400252, X75535
      Consensus CDS
      CCDS1201.1
      UniProtKB/Swiss-Prot
      P40855
      UniProtKB/TrEMBL
      A0A0S2Z497
      Related
      ENSP00000357051.5, OTTHUMP00000031848, ENST00000368072.9, OTTHUMT00000080642
      Conserved Domains (1) summary
      pfam04614
      Location:74299
      Pex19; Pex19 protein family

    RNA

    1. NR_036492.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as PxFdelta2 or PEX19deltaE2) lacks exon 2, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB062286, AL513282, BC064979, DC400252
      Related
      ENST00000472750.5, OTTHUMT00000080643
    2. NR_036493.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as PxFdelta4) lacks exon 4, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB062286, AL513282, BC064979, DC400252, DC405033

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      160276809..160285151 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001131039.1: Suppressed sequence

      Description
      NM_001131039.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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