Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5824
Gene name Gene Name - the full gene name approved by the HGNC.
Peroxisomal biogenesis factor 19
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PEX19
Synonyms (NCBI Gene) Gene synonyms aliases
D1S2223E, HK33, PBD12A, PMP1, PMPI, PXF, PXMP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PBD12A
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.2
Summary Summary of gene provided in NCBI Entrez 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.
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049884 hsa-miR-31-5p CLASH 23622248
MIRT046878 hsa-miR-221-3p CLASH 23622248
MIRT1225707 hsa-miR-106a CLIP-seq
MIRT1225708 hsa-miR-106b CLIP-seq
MIRT1225709 hsa-miR-17 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600279 9713 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
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form. {ECO:0000269|PubMed:9339377}.
Sequence
Sequence length 299
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Zellweger Syndrome Zellweger spectrum disorders, peroxisome biogenesis disorder GenCC
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 36835467
Neoplasms Associate 36835467
Zellweger Syndrome Associate 28281558, 34884833, 36931687