Homo sapiens Gene: PEX19
Summary
InnateDB Gene IDBG-104024.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PEX19
Gene Name peroxisomal biogenesis factor 19
Synonyms D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF; PXMP1;
Species Homo sapiens
Ensembl Gene ENSG00000162735
Encoded Proteins
peroxisomal biogenesis factor 19
peroxisomal biogenesis factor 19
peroxisomal biogenesis factor 19
peroxisomal biogenesis factor 19
peroxisomal biogenesis factor 19
peroxisomal biogenesis factor 19
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:160276812-160286348
Strand Reverse strand
Band q23.2
Transcripts
ENST00000368072 ENSP00000357051
ENST00000392220 ENSP00000376054
ENST00000472750 ENSP00000434633
ENST00000495624 ENSP00000434567
ENST00000462644 ENSP00000435896
ENST00000532508
ENST00000532643 ENSP00000435915
ENST00000532516
ENST00000533699
ENST00000533104
ENST00000524939
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 56 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 56 [view]
Protein-Protein 53 [view]
Protein-DNA 2 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
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:0005737 cytoplasm
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005829 cytosol
GO:0016021 integral component of membrane
GO:0031526 brush border membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
ABCA transporters in lipid homeostasis pathway
ABC-family proteins mediated transport pathway
KEGG
Peroxisome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.517232 Hs.609165
RefSeq NM_001193644 NM_002857
HUGO
OMIM
CCDS CCDS1201
HPRD 02610
IMGT
EMBL
GenPept
RNA Seq Atlas