PEX12
entrez
5193
canonical
uniprot
O00623
canonical
ensembl
ENSG00000108733
resolver
ensp
ENSP00000225873
resolver
enst
ENST00000225873
resolver
genesymbol
PEX12
resolver
genesymbol_syn
PAF3
resolver
hgnc
HGNC:8854
resolver
uniprot
B2R6M2
resolver
uniprot_entry
PEX12_HUMAN
resolver
uniprot_sec
B2R6M2
resolver
amino_acid_sequence
MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN
uniprot
proteins
disease_involvement
DISEASE: Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:614859]: 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:17534573, ECO:0000269|PubMed:19105186}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 3A (PBD3A) [MIM:614859]: 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:9090384, ECO:0000269|PubMed:9354782}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 3B (PBD3B) [MIM:266510]: 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:10562279, ECO:0000269|PubMed:19105186, ECO:0000269|PubMed:26094004, ECO:0000269|PubMed:26947510, ECO:0000269|PubMed:33123925}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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, PubMed:9354782, PubMed:9632816). 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). PEX12 also regulates PEX5 recycling by activating the E3 ubiquitin-protein ligase activity of PEX10 (PubMed:24662292). When PEX5 recycling is compromised, PEX12 stimulates PEX10-mediated polyubiquitination of PEX5, leading to its subsequent degradation (By similarity). {ECO:0000250|UniProtKB:Q04370, ECO:0000269|PubMed:24662292, ECO:0000269|PubMed:9354782, ECO:0000269|PubMed:9632816}.
uniprot
proteins
mass_dalton
40797
uniprot
proteins
mutagenesis
MUTAGEN 304; /note="C->W: Abolishes ability to activate the E3 ubiquitin-protein ligase activity of PEX10. Abolishes interaction with PEX19; when associated with Q-307."; /evidence="ECO:0000269|PubMed:11390669, ECO:0000269|PubMed:24662292"; MUTAGEN 307; /note="C->Q: Abolishes interaction with PEX19; when associated with W-304."; /evidence="ECO:0000269|PubMed:11390669
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:24662292}.
uniprot
proteins
protein_family
Pex2/pex10/pex12 family
uniprot
proteins
pubmed
10562279
uniprot
proteins
pubmed
10704444
uniprot
proteins
pubmed
11390669
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17041890
uniprot
proteins
pubmed
17534573
uniprot
proteins
pubmed
19105186
uniprot
proteins
pubmed
24662292
uniprot
proteins
pubmed
26094004
uniprot
proteins
pubmed
26947510
uniprot
proteins
pubmed
33123925
uniprot
proteins
pubmed
9090384
uniprot
proteins
pubmed
9354782
uniprot
proteins
pubmed
9632816
uniprot
proteins
pubmed
9922452
uniprot
proteins
sequence_length
359
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:9922452}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 20..47; /note="Helical; Name=TM1"; /evidence="ECO:0000250|UniProtKB:G2Q5N0"; TRANSMEM 52..76; /note="Helical; Name=TM2"; /evidence="ECO:0000250|UniProtKB:G2Q5N0"; TRANSMEM 110..139; /note="Helical; Name=TM3"; /evidence="ECO:0000250|UniProtKB:G2Q5N0"; TRANSMEM 145..183; /note="Helical; Name=TM4"; /evidence="ECO:0000250|UniProtKB:G2Q5N0"; TRANSMEM 250..277; /note="Helical; Name=TM5"; /evidence="ECO:0000250|UniProtKB:G2Q5N0
uniprot
proteins