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

Gene ID: 5824, updated on 8-May-2016
Official Symbol
PEX19provided by HGNC
Official Full Name
peroxisomal biogenesis factor 19provided by HGNC
Primary source
HGNC:HGNC:9713
See related
Ensembl:ENSG00000162735 HPRD:02610; 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]
Orthologs
Location:
1q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 ribosomal protein SA pseudogene 18 Neighboring gene nescient helix-loop-helix 1 Neighboring gene coatomer protein complex subunit alpha Neighboring gene SUMO1 pseudogene 3 Neighboring gene nicastrin

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 membrane biogenesis IDA
Inferred from Direct Assay
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 IMP
Inferred from Mutant Phenotype
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
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IMP
Inferred from Mutant Phenotype
more info
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 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:55274
    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, OTTHUMP00000031848, ENST00000368072, OTTHUMT00000080642
    Conserved Domains (1) summary
    pfam04614
    Location:55299
    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, 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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    161641944..161650286 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.