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Details on Person UniProt:O00623 PEX12

Class:IdReferenceGeneProduct:61550
_chainChangeLogchain:1-359 added on Fri February 6 2015
_displayNameUniProt:O00623 PEX12
_timestamp2024-11-03 19:47:52
chainchain:1-359
checksum1AF0BE6416422109
commentFUNCTION 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).PATHWAY Protein modification; protein ubiquitination.SUBUNIT Component of the PEX2-PEX10-PEX12 retrotranslocation channel, composed of PEX2, PEX10 and PEX12 (PubMed:10562279, PubMed:24662292). Interacts with PEX19 via its cytoplasmic domain (PubMed:10704444, PubMed:11390669).INTERACTION The three subunits of the retrotranslocation channel (PEX2, PEX10 and PEX12) coassemble in the membrane into a channel with an open 10 Angstrom pore (By similarity). The RING-type zinc-fingers that catalyze PEX5 receptor ubiquitination are positioned above the pore on the cytosolic side of the complex (By similarity).DOMAIN The RING-type zinc-finger is degenerated and only coordinates one zinc ions, preventing E3 ubiquitin-protein ligase activity.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the pex2/pex10/pex12 family.
descriptionrecommendedName: fullName evidence="19"Peroxisome assembly protein 12 alternativeName: fullName evidence="19"Peroxin-12 alternativeName: Peroxisome assembly factor 3 shortName: PAF-3
geneNamePEX12
PAF3
identifierO00623
isSequenceChangedFALSE
keywordDisease variant
Membrane
Metal-binding
Peroxisome
Peroxisome biogenesis disorder
Protein transport
Proteomics identification
Reference proteome
Transmembrane
Transmembrane helix
Transport
Ubl conjugation pathway
Zellweger syndrome
Zinc
Zinc-finger
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
namePEX12
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8988025] ENSEMBL:ENSG00000108733 PEX12 [Homo sapiens]
secondaryIdentifierPEX12_HUMAN
B2R6M2
sequenceLength359
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:8953911] PEX12 [peroxisomal membrane] [Homo sapiens]
[EntityWithAccessionedSequence:9603782] PEX12 [cytosol] [Homo sapiens]
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