Human Gene PEX19 (ENST00000368072.10_6) from GENCODE V47lift37
  Description: peroxisomal biogenesis factor 19, transcript variant 3 (from RefSeq NR_036493.2)
Gencode Transcript: ENST00000368072.10_6
Gencode Gene: ENSG00000162735.19_9
Transcript (Including UTRs)
   Position: hg19 chr1:160,246,597-160,254,923 Size: 8,327 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr1:160,249,341-160,254,914 Size: 5,574 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:160,246,597-160,254,923)mRNA (may differ from genome)Protein (299 aa)
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-  Comments and Description Text from UniProtKB
  ID: PEX19_HUMAN
DESCRIPTION: RecName: Full=Peroxisomal biogenesis factor 19; AltName: Full=33 kDa housekeeping protein; AltName: Full=Peroxin-19; AltName: Full=Peroxisomal farnesylated protein; Flags: Precursor;
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.
SUBUNIT: 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.
INTERACTION: P28288:ABCD3; NbExp=2; IntAct=EBI-594747, EBI-80992; O96011:PEX11B; NbExp=2; IntAct=EBI-594747, EBI-594824; O00623:PEX12; NbExp=2; IntAct=EBI-594747, EBI-594836; Q92968:PEX13; NbExp=2; IntAct=EBI-594747, EBI-594849; O75381:PEX14; NbExp=4; IntAct=EBI-594747, EBI-594898; P56589:PEX3; NbExp=4; IntAct=EBI-594747, EBI-594885; O43808:SLC25A17; NbExp=4; IntAct=EBI-594747, EBI-594912;
SUBCELLULAR LOCATION: Cytoplasm. Peroxisome membrane; Lipid- anchor; Cytoplasmic side. Note=Mainly cytoplasmic. Some fraction membrane-associated to the outer surface of peroxisomes.
TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form.
DISEASE: Defects in PEX19 are the cause of peroxisome biogenesis disorder complementation group 14 (PBD-CG14) [MIM:600279]; also known as PBD-CGJ. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: 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. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies.
DISEASE: Defects in PEX19 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life.
SIMILARITY: Belongs to the peroxin-19 family.
SEQUENCE CAUTION: Sequence=BAB93469.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX19";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PEX19
Diseases sorted by gene-association score: peroxisome biogenesis disorder 12a* (919), neonatal adrenoleukodystrophy* (117), peroxisome biogenesis disorder 1b* (107), peroxisome biogenesis disorders, zellweger syndrome spectrum* (58), zellweger syndrome (18), encephalitozoonosis (11), phacogenic glaucoma (10), iris disease (9), adrenoleukodystrophy (9), acute closed-angle glaucoma (8), phimosis (7), lens disease (6), penile disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.68 RPKM in Adipose - Subcutaneous
Total median expression: 207.95 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -827.802744-0.302 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006708 - Pex19

Pfam Domains:
PF04614 - Pex19 protein family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2W85 - NMR MuPIT 2WL8 - X-ray MuPIT 3AJB - X-ray MuPIT 3MK4 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P40855
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0036105 peroxisome membrane class-1 targeting sequence binding
GO:0047485 protein N-terminus binding
GO:0051117 ATPase binding

Biological Process:
GO:0006625 protein targeting to peroxisome
GO:0007031 peroxisome organization
GO:0016557 peroxisome membrane biogenesis
GO:0016559 peroxisome fission
GO:0045046 protein import into peroxisome membrane
GO:0050821 protein stabilization
GO:0055085 transmembrane transport
GO:0061077 chaperone-mediated protein folding
GO:0072321 chaperone-mediated protein transport
GO:0072663 establishment of protein localization to peroxisome
GO:1900131 negative regulation of lipid binding

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031526 brush border membrane
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AK294940 - Homo sapiens cDNA FLJ55296 complete cds, highly similar to Homo sapiens WD repeat domain 42A (WDR42A), mRNA.
BC064979 - Homo sapiens cDNA clone IMAGE:6168823, partial cds.
X75535 - H.sapiens mRNA for PxF protein.
AB062286 - Homo sapiens OK/SW-cl.22 mRNA for peroxisomal farnesylated protein, complete cds.
JD508164 - Sequence 489188 from Patent EP1572962.
LF205466 - JP 2014500723-A/12969: Polycomb-Associated Non-Coding RNAs.
JD190047 - Sequence 171071 from Patent EP1572962.
JD360694 - Sequence 341718 from Patent EP1572962.
JD146450 - Sequence 127474 from Patent EP1572962.
JD296406 - Sequence 277430 from Patent EP1572962.
JD348978 - Sequence 330002 from Patent EP1572962.
JD538697 - Sequence 519721 from Patent EP1572962.
JD504939 - Sequence 485963 from Patent EP1572962.
JD527663 - Sequence 508687 from Patent EP1572962.
JD323637 - Sequence 304661 from Patent EP1572962.
JD394121 - Sequence 375145 from Patent EP1572962.
JD341112 - Sequence 322136 from Patent EP1572962.
JD437428 - Sequence 418452 from Patent EP1572962.
JD500673 - Sequence 481697 from Patent EP1572962.
JD203117 - Sequence 184141 from Patent EP1572962.
JD311149 - Sequence 292173 from Patent EP1572962.
JD437277 - Sequence 418301 from Patent EP1572962.
JD551508 - Sequence 532532 from Patent EP1572962.
JD088479 - Sequence 69503 from Patent EP1572962.
JD414621 - Sequence 395645 from Patent EP1572962.
JD057556 - Sequence 38580 from Patent EP1572962.
AY434724 - Homo sapiens erythroid differentiation-related mRNA, partial sequence.
JD087257 - Sequence 68281 from Patent EP1572962.
JD260644 - Sequence 241668 from Patent EP1572962.
JD163273 - Sequence 144297 from Patent EP1572962.
JD163272 - Sequence 144296 from Patent EP1572962.
JD347599 - Sequence 328623 from Patent EP1572962.
BC000496 - Homo sapiens peroxisomal biogenesis factor 19, mRNA (cDNA clone MGC:8403 IMAGE:2820701), complete cds.
LF320789 - JP 2014500723-A/128292: Polycomb-Associated Non-Coding RNAs.
JD429845 - Sequence 410869 from Patent EP1572962.
JD247514 - Sequence 228538 from Patent EP1572962.
JD037819 - Sequence 18843 from Patent EP1572962.
JD399511 - Sequence 380535 from Patent EP1572962.
JD133922 - Sequence 114946 from Patent EP1572962.
JD335931 - Sequence 316955 from Patent EP1572962.
JD336147 - Sequence 317171 from Patent EP1572962.
JD222348 - Sequence 203372 from Patent EP1572962.
JD241709 - Sequence 222733 from Patent EP1572962.
JD331351 - Sequence 312375 from Patent EP1572962.
JD049914 - Sequence 30938 from Patent EP1572962.
LF320788 - JP 2014500723-A/128291: Polycomb-Associated Non-Coding RNAs.
JD196948 - Sequence 177972 from Patent EP1572962.
JD105976 - Sequence 87000 from Patent EP1572962.
JD204349 - Sequence 185373 from Patent EP1572962.
JD171998 - Sequence 153022 from Patent EP1572962.
JD178505 - Sequence 159529 from Patent EP1572962.
AK300368 - Homo sapiens cDNA FLJ52066 complete cds, highly similar to Peroxisomal biogenesis factor 19.
JD093159 - Sequence 74183 from Patent EP1572962.
LF320787 - JP 2014500723-A/128290: Polycomb-Associated Non-Coding RNAs.
JD349364 - Sequence 330388 from Patent EP1572962.
JD527776 - Sequence 508800 from Patent EP1572962.
JD191944 - Sequence 172968 from Patent EP1572962.
AB018541 - Homo sapiens PEX19 mRNA, complete cds.
JD370322 - Sequence 351346 from Patent EP1572962.
JD158244 - Sequence 139268 from Patent EP1572962.
AK303099 - Homo sapiens cDNA FLJ52177 complete cds, highly similar to Peroxisomal biogenesis factor 19.
JD254323 - Sequence 235347 from Patent EP1572962.
JD555628 - Sequence 536652 from Patent EP1572962.
JD094693 - Sequence 75717 from Patent EP1572962.
KJ891957 - Synthetic construct Homo sapiens clone ccsbBroadEn_01351 PEX19 gene, encodes complete protein.
BT006879 - Homo sapiens peroxisomal farnesylated protein mRNA, complete cds.
DQ891417 - Synthetic construct clone IMAGE:100004047; FLH176743.01X; RZPDo839G10122D peroxisomal biogenesis factor 19 (PEX19) gene, encodes complete protein.
DQ894591 - Synthetic construct Homo sapiens clone IMAGE:100009051; FLH176739.01L; RZPDo839G10121D peroxisomal biogenesis factor 19 (PEX19) gene, encodes complete protein.
AB528487 - Synthetic construct DNA, clone: pF1KB6376, Homo sapiens PEX19 gene for peroxisomal biogenesis factor 19, without stop codon, in Flexi system.
KU178290 - Homo sapiens peroxisomal biogenesis factor 19 isoform 1 (PEX19) mRNA, partial cds.
KU178291 - Homo sapiens peroxisomal biogenesis factor 19 isoform 2 (PEX19) mRNA, complete cds.
LF320786 - JP 2014500723-A/128289: Polycomb-Associated Non-Coding RNAs.
LF320783 - JP 2014500723-A/128286: Polycomb-Associated Non-Coding RNAs.
LF320780 - JP 2014500723-A/128283: Polycomb-Associated Non-Coding RNAs.
MA441043 - JP 2018138019-A/12969: Polycomb-Associated Non-Coding RNAs.
MA556366 - JP 2018138019-A/128292: Polycomb-Associated Non-Coding RNAs.
MA556365 - JP 2018138019-A/128291: Polycomb-Associated Non-Coding RNAs.
MA556364 - JP 2018138019-A/128290: Polycomb-Associated Non-Coding RNAs.
MA556363 - JP 2018138019-A/128289: Polycomb-Associated Non-Coding RNAs.
MA556360 - JP 2018138019-A/128286: Polycomb-Associated Non-Coding RNAs.
MA556357 - JP 2018138019-A/128283: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P40855 (Reactome details) participates in the following event(s):

R-HSA-382613 PEX-19 docks ABCD1/D2/D3 to peroximal membrane
R-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: D3DVE7, E9PPB4, ENST00000368072.1, ENST00000368072.2, ENST00000368072.3, ENST00000368072.4, ENST00000368072.5, ENST00000368072.6, ENST00000368072.7, ENST00000368072.8, ENST00000368072.9, G3V3G9, HK33, NR_036493, OK/SW-cl.22, P40855, PEX19 , PEX19_HUMAN, PXF, Q5QNY4, Q8NI97, uc318glh.1, uc318glh.2
UCSC ID: ENST00000368072.10_6
RefSeq Accession: NM_002857.4
Protein: P40855 (aka PEX19_HUMAN or PXF_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PEX19:
pbd (Zellweger Spectrum Disorder)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.