PEX10
entrez
5192
canonical
uniprot
O60683
canonical
ensembl
ENSG00000157911
resolver
ensp
ENSP00000288774
resolver
ensp
ENSP00000407922
resolver
ensp
ENSP00000423051
resolver
ensp
ENSP00000544751
resolver
ensp
ENSP00000692551
resolver
enst
ENST00000510434
resolver
genesymbol
PEX10
resolver
genesymbol_syn
RNF69
resolver
hgnc
HGNC:8851
resolver
uniprot
B3KWD8
resolver
uniprot
D6RA89
resolver
uniprot
Q5T095
resolver
uniprot
Q9BW90
resolver
uniprot_entry
D6RA89_HUMAN
resolver
uniprot_entry
PEX10_HUMAN
resolver
uniprot_sec
B3KWD8
resolver
uniprot_sec
Q5T095
resolver
uniprot_sec
Q9BW90
resolver
activity_regulation
ACTIVITY REGULATION: The E3 ubiquitin-protein ligase activity is stimulated by PEX12. {ECO:0000269|PubMed:24662292}.
uniprot
proteins
amino_acid_sequence
MAPAAASPPEVIRAAQKDEYYRGGLRSAAGGALHSLAGARKWLEWRKEVELLSDVAYFGLTTLAGYQTLGEEYVSIIQVDPSRIHVPSSLRRGVLVTLHAVLPYLLDKALLPLEQELQADPDSGRPLQGSLGPGGRGCSGARRWMRHHTATLTEQQRRALLRAVFVLRQGLACLQRLHVAWFYIHGVFYHLAKRLTGITYLRVRSLPGEDLRARVSYRLLGVISLLHLVLSMGLQLYGFRQRQRARKEWRLHRGLSHRRASLEERAVSRNPLCTLCLEERRHPTATPCGHLFCWECITAWCSSKAECPLCREKFPPQKLIYLRHYR
uniprot
proteins
disease_involvement
DISEASE: Peroxisome biogenesis disorder complementation group 7 (PBD-CG7) [MIM:614870]: 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:19105186}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 6A (PBD6A) [MIM:614870]: 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:17041890, ECO:0000269|PubMed:32069232, ECO:0000269|PubMed:9700193}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269|PubMed:20695019, ECO:0000269|PubMed:24662292, ECO:0000269|PubMed:27230853, ECO:0000269|PubMed:28784167, ECO:0000269|PubMed:30022445, ECO:0000269|PubMed:9683594}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
FUNCTION: E3 ubiquitin-protein ligase component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting PEX5 recycling (PubMed:24662292). The retrotranslocation channel is composed of PEX2, PEX10 and PEX12; each subunit contributing transmembrane segments that coassemble into an open channel that specifically allows the passage of PEX5 through the peroxisomal membrane (By similarity). PEX10 also regulates PEX5 recycling by acting as a E3 ubiquitin-protein ligase (PubMed:24662292). When PEX5 recycling is compromised, PEX10 catalyzes polyubiquitination of PEX5 during its passage through the retrotranslocation channel, leading to its degradation (By similarity). {ECO:0000250|UniProtKB:Q05568, ECO:0000269|PubMed:24662292}.
uniprot
proteins
mass_dalton
37069
uniprot
proteins
mutagenesis
MUTAGEN 273; /note="C->A: Abolished E3 ubiquitin-protein ligase activity."; /evidence="ECO:0000269|PubMed:24662292"; MUTAGEN 310; /note="C->G: Abolished E3 ubiquitin-protein ligase activity."; /evidence="ECO:0000269|PubMed:24662292
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:24662292}.
uniprot
proteins
protein_family
Pex2/pex10/pex12 family
uniprot
proteins
pubmed
10704444
uniprot
proteins
pubmed
11390669
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17041890
uniprot
proteins
pubmed
19105186
uniprot
proteins
pubmed
20695019
uniprot
proteins
pubmed
24662292
uniprot
proteins
pubmed
27230853
uniprot
proteins
pubmed
28784167
uniprot
proteins
pubmed
30022445
uniprot
proteins
pubmed
32069232
uniprot
proteins
pubmed
9683594
uniprot
proteins
pubmed
9700193
uniprot
proteins
pubmed
9922452
uniprot
proteins
sequence_length
326
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:9922452}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..37; /note="Helical; Name=TM1"; /evidence="ECO:0000250|UniProtKB:G2Q0E2"; TRANSMEM 39..60; /note="Helical; Name=TM2"; /evidence="ECO:0000250|UniProtKB:G2Q0E2"; TRANSMEM 90..122; /note="Helical; Name=TM3"; /evidence="ECO:0000250|UniProtKB:G2Q0E2"; TRANSMEM 148..185; /note="Helical; Name=TM4"; /evidence="ECO:0000250|UniProtKB:G2Q0E2"; TRANSMEM 217..236; /note="Helical; Name=TM5"; /evidence="ECO:0000250|UniProtKB:G2Q0E2
uniprot
proteins