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

Gene ID: 5824, updated on 4-Jan-2025

Summary

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; AllianceGenome:HGNC:9713
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
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Genomic context

See PEX19 in Genome Data Viewer
Location:
1q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160276807..160285151, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159413883..159422227, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160246597..160254941, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DDB1 and CUL4 associated factor 8 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160231274-160232222 Neighboring gene DCAF8 divergent transcript Neighboring gene ribosomal protein SA pseudogene 18 Neighboring gene uncharacterized LOC107985219 Neighboring gene COPI coat complex subunit alpha Neighboring gene SUMO1 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:160312973-160313920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1920 Neighboring gene nicastrin

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Peroxisome biogenesis disorder 12A (Zellweger)
MedGen: C3554002 OMIM: 614886 GeneReviews: Not available
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Pathways from PubChem

Interactions

General gene information

Potential readthrough

Included gene: DCAF8

Clone Names

  • FLJ55296

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in brush border membrane  
located_in cytoplasm PubMed 
located_in cytoplasm PubMed 
located_in cytoplasm  
located_in cytosol PubMed 
located_in cytosol  
located_in membrane PubMed 
located_in nucleoplasm  
located_in nucleus PubMed 
located_in peroxisomal membrane PubMed 
is_active_in peroxisomal membrane  
located_in peroxisomal membrane PubMed 
located_in peroxisome PubMed 
located_in peroxisome  
part_of protein-containing complex PubMed 

General protein information

Preferred Names
peroxisomal biogenesis factor 19
Names
33 kDa housekeeping protein
housekeeping gene, 33kD
peroxin-19
peroxisomal farnesylated protein

NCBI Reference Sequences (RefSeq)

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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
    5019..13345
    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/TrEMBL
    Q5QNY5
    Conserved Domains (1) summary
    pfam04614
    Location:74274
    Pex19; Pex19 protein family
  2. NM_002857.4NP_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, X75535
    Consensus CDS
    CCDS1201.1
    UniProtKB/Swiss-Prot
    D3DVE7, E9PPB4, G3V3G9, P40855, Q5QNY4, Q8NI97
    UniProtKB/TrEMBL
    A0A0S2Z497
    Related
    ENSP00000357051.5, ENST00000368072.10
    Conserved Domains (1) summary
    pfam04614
    Location:74299
    Pex19; Pex19 protein family

RNA

  1. NR_036492.2 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
  2. NR_036493.2 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, DC405033

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    160276807..160285151 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    159413883..159422227 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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