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 |
rs1557853666 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
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 |
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |