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Aliases for PEX19 Gene

Aliases for PEX19 Gene

  • Peroxisomal Biogenesis Factor 19 2 3 5
  • Peroxisomal Farnesylated Protein 2 3 4
  • 33 KDa Housekeeping Protein 3 4
  • Peroxin-19 3 4
  • HK33 3 4
  • PXF 3 4
  • Housekeeping Gene, 33kD 3
  • Housekeeping Gene 2
  • D1S2223E 3
  • PBD12A 3
  • 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 peroxisome biogenesis disorder 1b. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ABC-family proteins mediated transport. 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

Promoters for PEX19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PEX19 on UCSC Golden Path with GeneCards custom track

Genomic Location for PEX19 Gene

Chromosome:
1
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

Genes around PEX19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 52, Lys 60, Lys 92, Lys 107, Lys 130, Lys 138, Lys 198, and Lys 245
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX19 Gene

Antibody Products

No data available for DME Specific Peptides for PEX19 Gene

Domains & Families for PEX19 Gene

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

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
genes like me logo Genes that share ontologies with PEX19: view
genes like me logo Genes that share phenotypes with PEX19: view

Human Phenotype Ontology for PEX19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for PEX19 Gene

miRTarBase miRNAs that target PEX19

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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. {ECO:0000269 PubMed:10704444, ECO:0000269 PubMed:15007061}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX19 Gene COMPARTMENTS Subcellular localization image for PEX19 gene
Compartment Confidence
cytosol 5
nucleus 5
peroxisome 5
plasma membrane 4
endoplasmic reticulum 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PEX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IDA --
GO:0005777 peroxisome IEA,ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PEX19: view

Pathways & Interactions 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:0050821 protein stabilization IDA 14709540
GO:0055085 transmembrane transport TAS --
GO:0072321 chaperone-mediated protein transport IDA 11402059
GO:1900131 negative regulation of lipid binding IDA 19715730
genes like me logo Genes that share ontologies with PEX19: view

No data available for SIGNOR curated interactions for PEX19 Gene

Drugs & Compounds for PEX19 Gene

No Compound Related Data Available

Transcripts for PEX19 Gene

Unigene Clusters for PEX19 Gene

Peroxisomal biogenesis factor 19:
Representative Sequences:

Inhibitory RNA 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

Protein differential expression in normal tissues from HIPED for PEX19 Gene

This gene is overexpressed in Bone (46.1) and Pancreas (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PEX19: view

Protein tissue co-expression partners for PEX19 Gene

Primer Products

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 36
  • 94 (a)
OneToOne
PEX19 35
  • 91.75 (n)
  • 94.31 (a)
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 pex19 36
  • 52 (a)
OneToOne
copa 35
pex19 35
  • 64.64 (n)
  • 60.46 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008804 35
  • 48.15 (n)
  • 34.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pex19 36
  • 31 (a)
OneToOne
Pex19 35
  • 45.94 (n)
  • 31.46 (a)
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

(1) 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
rs8989 -- 160,278,653(-) AGGAA(A/G)TTAAT nc-transcript-variant, utr-variant-3-prime
rs10594 -- 160,277,395(-) TTGCC(C/G)ATGAC nc-transcript-variant, utr-variant-3-prime
rs2795065 -- 160,281,483(+) agctc(A/G)ctgca intron-variant
rs2795066 -- 160,281,627(+) tctcg(A/G)actcc intron-variant
rs2795067 -- 160,282,002(+) ATGGA(A/G)AATGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv3210 CNV Loss 18451855

Variation tolerance for PEX19 Gene

Residual Variation Intolerance Score: 24.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX19 Gene

HapMap Linkage Disequilibrium report
PEX19
Human Gene Mutation Database (HGMD)
PEX19

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

Disorders for PEX19 Gene

MalaCards: The human disease database

(20) MalaCards diseases for PEX19 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 12a
  • pbd12a
peroxisome biogenesis disorder 1b
  • infantile refsum disease
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
bile acid synthesis defect, congenital, 5
  • congenital bile acid synthesis defect 5
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
- elite association - COSMIC cancer census association via MalaCards
Search PEX19 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for PEX19

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX19
genes like me logo Genes that share disorders with PEX19: view

No data available for Genatlas for PEX19 Gene

Publications for PEX19 Gene

  1. 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 67
  2. 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 23
  3. Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19. (PMID: 19197237) Neufeld C. … Sattler M. (EMBO J. 2009) 3 23
  4. Targeting of the tail-anchored peroxisomal membrane proteins PEX26 and PEX15 occurs through C-terminal PEX19-binding sites. (PMID: 16763195) Halbach A. … Rottensteiner H. (J. Cell. Sci. 2006) 3 23
  5. Interaction of a farnesylated protein with renal type IIa Na/Pi co-transporter in response to parathyroid hormone and dietary phosphate. (PMID: 14558883) Ito M. … Miyamoto K. (Biochem. J. 2004) 3 23

Products for PEX19 Gene

Sources for PEX19 Gene

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