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PEX19 (peroxisomal biogenesis factor 19)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5824
Gene nameGene Name - the full gene name approved by the HGNC.
Peroxisomal biogenesis factor 19
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PEX19
SynonymsGene synonyms aliases
D1S2223E, HK33, PBD12A, PMP1, PMPI, PXF, PXMP1
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.2
SummarySummary 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.
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 299
Interactions View interactions

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