PEX19 (peroxisomal biogenesis factor 19)

Gene

• Entrez ID: 5824
• Gene name: Peroxisomal biogenesis factor 19
• Gene symbol: PEX19
• Synonyms: D1S2223E, HK33, PBD12A, PMP1, PMPI, PXF, PXMP1
• Chromosome: 1
• Chromosome location: 1q23.2
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139828188	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, synonymous variant, intron variant, coding sequence variant
rs142780305	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs149058086	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs267608186	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs869312934	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1557853666	T>C	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046878	hsa-miR-221-3p	CLASH	23622248
MIRT049884	hsa-miR-31-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	10704444, 10777694, 11402059, 11590176, 12096124, 12488033, 14709540, 16189514, 16280322, 16344115, 16763195, 18174172, 18782765, 19114594, 19197237, 19715730, 20531392, 21102411, 21525035, 25416956, 25502805, 27107012, 28514442, 29997244, 31467278, 31515488, 32296183, 32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	14709540
GO:0005737	Component	Cytoplasm	ISS
GO:0005777	Component	Peroxisome	IDA	19114594
GO:0005777	Component	Peroxisome	ISS
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA	21873635
GO:0005778	Component	Peroxisomal membrane	IDA	9339377
GO:0005829	Component	Cytosol	IDA	19114594
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	IDA	16344115, 16763195
GO:0006625	Process	Protein targeting to peroxisome	IMP	10704444, 19114594
GO:0007031	Process	Peroxisome organization	IMP	14709540
GO:0007031	Process	Peroxisome organization	NAS	9339377
GO:0016559	Process	Peroxisome fission	IMP	18782765
GO:0031526	Component	Brush border membrane	ISS
GO:0032991	Component	Protein-containing complex	IDA	18174172
GO:0033328	Function	Peroxisome membrane targeting sequence binding	IBA	21873635
GO:0036105	Function	Peroxisome membrane class-1 targeting sequence binding	IDA	14709540
GO:0045046	Process	Protein import into peroxisome membrane	IBA	21873635
GO:0045046	Process	Protein import into peroxisome membrane	IDA	11402059, 14709540
GO:0047485	Function	Protein N-terminus binding	IPI	19197237
GO:0050821	Process	Protein stabilization	IDA	14709540, 16344115
GO:0051117	Function	ATPase binding	IPI	11453642
GO:0055085	Process	Transmembrane transport	TAS
GO:0061077	Process	Chaperone-mediated protein folding	IDA	14709540
GO:0072321	Process	Chaperone-mediated protein transport	IDA	11402059, 14709540
GO:0072663	Process	Establishment of protein localization to peroxisome	IMP	18782765
GO:1900131	Process	Negative regulation of lipid binding	IDA	19715730

Other IDs

• MIM: 600279
• HGNC: 9713
• e!Ensembl: ENSG00000162735

Protein

• UniProt ID: P40855
• Protein name: Peroxisomal biogenesis factor 19 (33 kDa housekeeping protein) (Peroxin-19) (Peroxisomal farnesylated protein)
• Protein 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.
• PDB: 2W85, 2WL8, 3AJB, 3MK4, 5LNF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04614	Pex19	74 → 299	Pex19 protein family	Family

• Sequence:

  MAAAEEGCSVGAEADRELEELLESALDDFDKAKPSPAPPSTTTAPDASGPQKRSPGDTAK
  DALFASQEKFFQELFDSELASQATAEFEKAMKELAEEEPHLVEQFQKLSEAAGRVGSDMT
  SQQEFTSCLKETLSGLAKNATDLQNSSMSEEELTKAMEGLGMDEGDGEGNILPIMQSIMQ
  NLLSKDVLYPSLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDS
  ETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDLDALNLSGPPGASGEQCLIM

• Sequence length: 299