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Aliases for PEX19 Gene

Aliases for PEX19 Gene

  • Peroxisomal Biogenesis Factor 19 2 3
  • Peroxisomal Farnesylated Protein 2 3 4
  • HK33 3 4 6
  • PXF 3 4 6
  • 33 KDa Housekeeping Protein 3 4
  • Peroxin-19 3 4
  • D1S2223E 3 6
  • PBD12A 3 6
  • Housekeeping Gene, 33kD 3
  • Housekeeping Gene 2
  • PXMP1 3
  • 33kD 2
  • PMP1 3
  • PMPI 3

External Ids for PEX19 Gene

Previous HGNC Symbols for PEX19 Gene

  • PXF

Previous GeneCards Identifiers for PEX19 Gene

  • GC01M157464
  • GC01M157059
  • GC01M158513
  • GC01M160209
  • GC01M131603

Summaries for PEX19 Gene

Entrez Gene Summary for PEX19 Gene

  • 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]

GeneCards Summary for PEX19 Gene

PEX19 (Peroxisomal Biogenesis Factor 19) is a Protein Coding gene. Diseases associated with PEX19 include peroxisome biogenesis disorder 12a and encephalitozoonosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Peroxisome. GO annotations related to this gene include protein N-terminus binding and peroxisome membrane class-1 targeting sequence binding.

UniProtKB/Swiss-Prot for PEX19 Gene

  • Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.

Gene Wiki entry for PEX19 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX19 Gene

Genomics for PEX19 Gene

Regulatory Elements for PEX19 Gene

Genomic Location for PEX19 Gene

Start:
160,276,809 bp from pter
End:
160,286,348 bp from pter
Size:
9,540 bases
Orientation:
Minus strand

Genomic View for PEX19 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PEX19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX19 Gene

Proteins for PEX19 Gene

  • Protein details for PEX19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40855-PEX19_HUMAN
    Recommended name:
    Peroxisomal biogenesis factor 19
    Protein Accession:
    P40855
    Secondary Accessions:
    • D3DVE7
    • Q5QNY4
    • Q8NI97

    Protein attributes for PEX19 Gene

    Size:
    299 amino acids
    Molecular mass:
    32807 Da
    Quaternary structure:
    • Interacts with a broad range of peroxisomal membrane proteins, including PEX3, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14 and PEX16, PXMP2/PMP22, PXMP4/PMP24, SLC25A17/PMP34, ABCD1/ALDP, ABCD2/ALDRP, and ABCD3/PMP70. Also interacts with the tumor suppressor CDKN2A/p19ARF.
    SequenceCaution:
    • Sequence=BAB93469.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PEX19 Gene

    Alternative splice isoforms for PEX19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX19 Gene

Proteomics data for PEX19 Gene at MOPED

Post-translational modifications for PEX19 Gene

  • Ubiquitination at Lys52, Lys60, Lys92, Lys107, Lys130, Lys138, Lys198, and Lys245
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX19 Gene

No data available for DME Specific Peptides for PEX19 Gene

Domains for PEX19 Gene

Protein Domains for PEX19 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P40855

UniProtKB/Swiss-Prot:

PEX19_HUMAN :
  • P40855
Family:
  • Belongs to the peroxin-19 family.
genes like me logo Genes that share domains with PEX19: view

No data available for Gene Families for PEX19 Gene

Function for PEX19 Gene

Molecular function for PEX19 Gene

UniProtKB/Swiss-Prot Function: Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.

Gene Ontology (GO) - Molecular Function for PEX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10704444
GO:0036105 peroxisome membrane class-1 targeting sequence binding IDA 14709540
GO:0047485 protein N-terminus binding IPI 19197237
GO:0051117 ATPase binding IPI 11453642
genes like me logo Genes that share ontologies with PEX19: view
genes like me logo Genes that share phenotypes with PEX19: view

Animal Model Products

miRNA for PEX19 Gene

miRTarBase miRNAs that target PEX19

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PEX19

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PEX19 Gene

Localization for PEX19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX19 Gene

Cytoplasm. Peroxisome membrane; Lipid-anchor; Cytoplasmic side. Note=Mainly cytoplasmic. Some fraction membrane-associated to the outer surface of peroxisomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX19 Gene COMPARTMENTS Subcellular localization image for PEX19 gene
Compartment Confidence
cytosol 5
peroxisome 5
nucleus 4
plasma membrane 4

Gene Ontology (GO) - Cellular Components for PEX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IMP 12924628
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm ISS --
GO:0005777 peroxisome ISS --
GO:0005778 peroxisomal membrane IDA 15713480
genes like me logo Genes that share ontologies with PEX19: view

Pathways for PEX19 Gene

genes like me logo Genes that share pathways with PEX19: view

Pathways by source for PEX19 Gene

Gene Ontology (GO) - Biological Process for PEX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome IMP 10704444
GO:0007031 peroxisome organization NAS 9339377
GO:0016557 peroxisome membrane biogenesis IDA 10051604
GO:0016559 peroxisome fission IMP 18782765
GO:0045046 protein import into peroxisome membrane IDA 11402059
genes like me logo Genes that share ontologies with PEX19: view

Transcripts for PEX19 Gene

Unigene Clusters for PEX19 Gene

Peroxisomal biogenesis factor 19:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PEX19

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX19 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - -
SP5: -
SP6: - - - -
SP7: - -
SP8:

Relevant External Links for PEX19 Gene

GeneLoc Exon Structure for
PEX19
ECgene alternative splicing isoforms for
PEX19

Expression for PEX19 Gene

mRNA expression in normal human tissues for PEX19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX19 Gene

SOURCE GeneReport for Unigene cluster for PEX19 Gene Hs.517232

mRNA Expression by UniProt/SwissProt for PEX19 Gene

P40855-PEX19_HUMAN
Tissue specificity: Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form.
genes like me logo Genes that share expressions with PEX19: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PEX19 Gene

Orthologs for PEX19 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX19 35
  • 99.44 (n)
  • 100 (a)
PEX19 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX19 35
  • 91.75 (n)
  • 94.31 (a)
PEX19 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX19 35
  • 92.92 (n)
  • 96.86 (a)
PEX19 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex19 35
  • 86.18 (n)
  • 90.64 (a)
Pex19 16
Pex19 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX19 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX19 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102548286 35
  • 87.79 (n)
  • 92.81 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3383 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pex19 35
  • 73.78 (n)
  • 75.8 (a)
Str.1546 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9268 35
zebrafish
(Danio rerio)
Actinopterygii copa 35
pex19 35
  • 64.64 (n)
  • 60.46 (a)
pex19 36
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008804 35
  • 48.15 (n)
  • 34.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pex19 35
  • 45.94 (n)
  • 31.46 (a)
Pex19 36
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prx-19 36
  • 32 (a)
OneToOne
barley
(Hordeum vulgare)
Liliopsida Hv.2097 35
rice
(Oryza sativa)
Liliopsida Os.17881 35
wheat
(Triticum aestivum)
Liliopsida Ta.14283 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3835 35
Species with no ortholog for PEX19:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PEX19 Gene

ENSEMBL:
Gene Tree for PEX19 (if available)
TreeFam:
Gene Tree for PEX19 (if available)

Paralogs for PEX19 Gene

Selected SIMAP similar genes for PEX19 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PEX19: view

No data available for Paralogs for PEX19 Gene

Variants for PEX19 Gene

Sequence variations from dbSNP and Humsavar for PEX19 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs8989 -- 160,278,653(-) AGGAA(A/G)TTAAT utr-variant-3-prime, nc-transcript-variant
rs9853 -- 160,277,198(-) aaaag(G/T)tgttc utr-variant-3-prime, nc-transcript-variant
rs10594 -- 160,277,395(-) TTGCC(C/G)ATGAC utr-variant-3-prime, nc-transcript-variant
rs1057962 -- 160,278,490(-) ATATT(C/T)TGAGT utr-variant-3-prime, nc-transcript-variant
rs1057973 -- 160,278,004(-) TAAAA(C/G)TTTTC utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for PEX19 Gene

Variant ID Type Subtype PubMed ID
nsv3210 CNV Loss 18451855

Relevant External Links for PEX19 Gene

HapMap Linkage Disequilibrium report
PEX19
Human Gene Mutation Database (HGMD)
PEX19
Locus Specific Mutation Databases (LSDB)
PEX19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX19 Gene

Disorders for PEX19 Gene

(1) OMIM Diseases for PEX19 Gene (600279)

UniProtKB/Swiss-Prot

PEX19_HUMAN
  • Peroxisome biogenesis disorder complementation group 14 (PBD-CG14) [MIM:614886]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). {ECO:0000269 PubMed:20683989}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 12A (PBD12A) [MIM:614886]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:10051604}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for PEX19 Gene

Disease -log(P) Hits PubMed IDs
zellweger syndrome 75 2

Relevant External Links for PEX19

GeneTests
PEX19
GeneReviews
PEX19
genes like me logo Genes that share disorders with PEX19: view

Publications for PEX19 Gene

  1. Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein. (PMID: 9339377) Kammerer S. … Braun A. (Genomics 1997) 2 3 4 23
  2. Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. (PMID: 10051604) Matsuzono Y. … Fujiki Y. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23
  3. PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins. (PMID: 15007061) Fang Y. … Gould S.J. (J. Cell Biol. 2004) 3 4 23
  4. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. (PMID: 11883941) Mayerhofer P.U. … Muntau A.C. (Biochem. Biophys. Res. Commun. 2002) 3 4 23
  5. Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19. (PMID: 19197237) Neufeld C. … Sattler M. (EMBO J. 2009) 3 4 23

Products for PEX19 Gene

Sources for PEX19 Gene

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