PEX3
entrez
8504
canonical
uniprot
P56589
canonical
ensembl
ENSG00000034693
resolver
ensp
ENSP00000356563
resolver
enst
ENST00000367591
resolver
genesymbol
PEX3
resolver
hgnc
HGNC:8858
resolver
uniprot
Q6FGP5
resolver
uniprot_entry
PEX3_HUMAN
resolver
uniprot_sec
Q6FGP5
resolver
amino_acid_sequence
MLRSVWNFLKRHKKKCIFLGTVLGGVYILGKYGQKKIREIQEREAAEYIAQARRQYHFESNQRTCNMTVLSMLPTLREALMQQLNSESLTALLKNRPSNKLEIWEDLKIISFTRSTVAVYSTCMLVVLLRVQLNIIGGYIYLDNAAVGKNGTTILAPPDVQQQYLSSIQHLLGDGLTELITVIKQAVQKVLGSVSLKHSLSLLDLEQKLKEIRNLVEQHKSSSWINKDGSKPLLCHYMMPDEETPLAVQACGLSPRDITTIKLLNETRDMLESPDFSTVLNTCLNRGFSRLLDNMAEFFRPTEQDLQHGNSMNSLSSVSLPLAKIIPIVNGQIHSVCSETPSHFVQDLLTMEQVKDFAANVYEAFSTPQQLEK
uniprot
proteins
disease_involvement
DISEASE: Peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:614882]: 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:10958759}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882]: 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:10848631, ECO:0000269|PubMed:10958759}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 10B (PBD10B) [MIM:617370]: A moderately severe peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD10B is characterized by neonatal jaundice, dysmorphic features, delayed psychomotor development, axial hypotonia that can progress to severe spastic paraparesis with hyperreflexia, nephrocalcinosis, neurogenic bladder, nystagmus, and cataracts. Laboratory studies show increased levels of very long-chain fatty acids. Inheritance is autosomal recessive. {ECO:0000269|PubMed:27557811}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes. {ECO:0000269|PubMed:10848631, ECO:0000269|PubMed:15007061}.
uniprot
proteins
mass_dalton
42140
uniprot
proteins
mutagenesis
MUTAGEN 125; /note="L->P: Abolishes binding to PEX19 without affecting targeting to peroxisomes; when associated with D-134."; /evidence="ECO:0000269|PubMed:15007061"; MUTAGEN 134; /note="N->D: Abolishes binding to PEX19 without affecting targeting to peroxisomes; when associated with P-125."; /evidence="ECO:0000269|PubMed:15007061
uniprot
proteins
protein_family
Peroxin-3 family
uniprot
proteins
pubmed
10430017
uniprot
proteins
pubmed
10679269
uniprot
proteins
pubmed
10704444
uniprot
proteins
pubmed
10848631
uniprot
proteins
pubmed
10958759
uniprot
proteins
pubmed
11390669
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15007061
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20554521
uniprot
proteins
pubmed
21102411
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21768384
uniprot
proteins
pubmed
27557811
uniprot
proteins
pubmed
9657383
uniprot
proteins
sequence_length
373
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:10848631, ECO:0000269|PubMed:11390669, ECO:0000269|PubMed:21768384}; Multi-pass membrane protein {ECO:0000269|PubMed:11390669}.
uniprot
proteins
transmembrane_region
TRANSMEM 16..36; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 117..140; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins