PEX19
entrez
5824
canonical
uniprot
P40855
canonical
ensembl
ENSG00000162735
resolver
ensembl
ENSG00000258465
resolver
ensp
ENSP00000357051
resolver
ensp
ENSP00000662362
resolver
genesymbol
PEX19
resolver
genesymbol_syn
HK33
resolver
genesymbol_syn
PXF
resolver
hgnc
HGNC:9713
resolver
uniprot
A0A0S2Z497
resolver
uniprot
D3DVE7
resolver
uniprot
E9PPB4
resolver
uniprot
G3V3G9
resolver
uniprot
Q5QNY4
resolver
uniprot
Q8NI97
resolver
uniprot_entry
A0A0S2Z497_HUMAN
resolver
uniprot_entry
PEX19_HUMAN
resolver
uniprot_sec
D3DVE7
resolver
uniprot_sec
E9PPB4
resolver
uniprot_sec
G3V3G9
resolver
uniprot_sec
Q5QNY4
resolver
uniprot_sec
Q8NI97
resolver
amino_acid_sequence
MAAAEEGCSVGAEADRELEELLESALDDFDKAKPSPAPPSTTTAPDASGPQKRSPGDTAKDALFASQEKFFQELFDSELASQATAEFEKAMKELAEEEPHLVEQFQKLSEAAGRVGSDMTSQQEFTSCLKETLSGLAKNATDLQNSSMSEEELTKAMEGLGMDEGDGEGNILPIMQSIMQNLLSKDVLYPSLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDSETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDLDALNLSGPPGASGEQCLIM
uniprot
proteins
disease_involvement
DISEASE: Peroxisome biogenesis disorder complementation group 14 (PBD-CG14) [MIM:614886]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). {ECO:0000269|PubMed:20683989}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 12A (PBD12A) [MIM:614886]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269|PubMed:10051604}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:10051604, ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:11259404, ECO:0000269|PubMed:11883941, ECO:0000269|PubMed:14709540, ECO:0000269|PubMed:15007061}.
uniprot
proteins
mass_dalton
32807
uniprot
proteins
mutagenesis
MUTAGEN 29; /note="F->A: Abolishes binding to PEX3."; /evidence="ECO:0000269|PubMed:20554521"; MUTAGEN 296..299; /note="Missing: Abolishes binding to PEX10, PEX11B, PEX12 and PEX13. Does not affect binding to PEX3 and PEX16."; /evidence="ECO:0000269|PubMed:11390669"; MUTAGEN 296; /note="C->A: Slightly inhibits PEX19 function on peroxisome biogenesis."; /evidence="ECO:0000269|PubMed:10051604, ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:10777694, ECO:0000269|PubMed:9339377"; MUTAGEN 296; /note="C->S: Abolishes farnesylation. Abolishes PEX19 function on peroxisome biogenesis. Does not affect binding to ABCD1, ABCD2 and ABCD3."; /evidence="ECO:0000269|PubMed:10051604, ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:10777694, ECO:0000269|PubMed:9339377
uniprot
proteins
protein_family
Peroxin-19 family
uniprot
proteins
pubmed
10051604
uniprot
proteins
pubmed
10704444
uniprot
proteins
pubmed
10777694
uniprot
proteins
pubmed
11259404
uniprot
proteins
pubmed
11390669
uniprot
proteins
pubmed
11883941
uniprot
proteins
pubmed
14709540
uniprot
proteins
pubmed
15007061
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19197237
uniprot
proteins
pubmed
20554521
uniprot
proteins
pubmed
20683989
uniprot
proteins
pubmed
21102411
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26871637
uniprot
proteins
pubmed
27181750
uniprot
proteins
pubmed
33798445
uniprot
proteins
pubmed
8076834
uniprot
proteins
pubmed
9339377
uniprot
proteins
sequence_length
299
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:11259404, ECO:0000269|PubMed:15007061}. Peroxisome membrane {ECO:0000269|PubMed:10051604, ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:15007061, ECO:0000269|PubMed:27181750, ECO:0000269|PubMed:9339377}; Lipid-anchor {ECO:0000269|PubMed:10051604, ECO:0000269|PubMed:9339377}; Cytoplasmic side {ECO:0000269|PubMed:10051604, ECO:0000269|PubMed:9339377}. Note=Mainly cytoplasmic. Some fraction membrane-associated to the outer surface of peroxisomes. {ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:15007061}.
uniprot
proteins