PEX6
entrez
5190
canonical
uniprot
Q13608
canonical
ensembl
ENSG00000124587
resolver
ensp
ENSP00000303511
resolver
ensp
ENSP00000528711
resolver
ensp
ENSP00000528712
resolver
ensp
ENSP00000691397
resolver
genesymbol
PEX6
resolver
genesymbol_syn
PXAAA1
resolver
hgnc
HGNC:8859
resolver
uniprot
Q5T8W1
resolver
uniprot
Q8WYQ0
resolver
uniprot
Q8WYQ1
resolver
uniprot
Q8WYQ2
resolver
uniprot
Q99476
resolver
uniprot_entry
PEX6_HUMAN
resolver
uniprot_sec
Q5T8W1
resolver
uniprot_sec
Q8WYQ0
resolver
uniprot_sec
Q8WYQ1
resolver
uniprot_sec
Q8WYQ2
resolver
uniprot_sec
Q99476
resolver
amino_acid_sequence
MALAVLRVLEPFPTETPPLAVLLPPGGPWPAAELGLVLALRPAGESPAGPALLVAALEGPDAGTEEQGPGPPQLLVSRALLRLLALGSGAWVRARAVRRPPALGWALLGTSLGPGLGPRVGPLLVRRGETLPVPGPRVLETRPALQGLLGPGTRLAVTELRGRARLCPESGDSSRPPPPPVVSSFAVSGTVRRLQGVLGGTGDSLGVSRSCLRGLGLFQGEWVWVAQARESSNTSQPHLARVQVLEPRWDLSDRLGPGSGPLGEPLADGLALVPATLAFNLGCDPLEMGELRIQRYLEGSIAPEDKGSCSLLPGPPFARELHIEIVSSPHYSTNGNYDGVLYRHFQIPRVVQEGDVLCVPTIGQVEILEGSPEKLPRWREMFFKVKKTVGEAPDGPASAYLADTTHTSLYMVGSTLSPVPWLPSEESTLWSSLSPPGLEALVSELCAVLKPRLQPGGALLTGTSSVLLRGPPGCGKTTVVAAACSHLGLHLLKVPCSSLCAESSGAVETKLQAIFSRARRCRPAVLLLTAVDLLGRDRDGLGEDARVMAVLRHLLLNEDPLNSCPPLMVVATTSRAQDLPADVQTAFPHELEVPALSEGQRLSILRALTAHLPLGQEVNLAQLARRCAGFVVGDLYALLTHSSRAACTRIKNSGLAGGLTEEDEGELCAAGFPLLAEDFGQALEQLQTAHSQAVGAPKIPSVSWHDVGGLQEVKKEILETIQLPLEHPELLSLGLRRSGLLLHGPPGTGKTLLAKAVATECSLTFLSVKGPELINMYVGQSEENVREVFARARAAAPCIIFFDELDSLAPSRGRSGDSGGVMDRVVSQLLAELDGLHSTQDVFVIGATNRPDLLDPALLRPGRFDKLVFVGANEDRASQLRVLSAITRKFKLEPSVSLVNVLDCCPPQLTGADLYSLCSDAMTAALKRRVHDLEEGLEPGSSALMLTMEDLLQAAARLQPSVSEQELLRYKRIQRKFAAC
uniprot
proteins
disease_involvement
DISEASE: Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]: 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, ECO:0000269|PubMed:21937992, ECO:0000269|PubMed:26593283}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]: 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:10408779, ECO:0000269|PubMed:17041890, ECO:0000269|PubMed:8670792}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 4B (PBD4B) [MIM:614863]: 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:11355018}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Heimler syndrome 2 (HMLR2) [MIM:616617]: A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. {ECO:0000269|PubMed:19105186, ECO:0000269|PubMed:26387595, ECO:0000269|PubMed:27302843}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.-
uniprot
proteins
function
FUNCTION: Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycling (PubMed:16314507, PubMed:16854980, PubMed:21362118, PubMed:29884772). Specifically recognizes PEX5 monoubiquitinated at 'Cys-11', and pulls it out of the peroxisome lumen through the PEX2-PEX10-PEX12 retrotranslocation channel (PubMed:29884772). Extraction by the PEX1-PEX6 AAA ATPase complex is accompanied by unfolding of the TPR repeats and release of bound cargo from PEX5 (PubMed:29884772). {ECO:0000269|PubMed:16314507, ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118, ECO:0000269|PubMed:29884772}.
uniprot
proteins
mass_dalton
104061
uniprot
proteins
mutagenesis
MUTAGEN 476; /note="K->E: In A1 mutant; abolished ATP-binding; decreased interaction with PEX1 or PEX26."; /evidence="ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118"; MUTAGEN 532; /note="D->N: In B1 mutant; abolished ATP hydrolysis; does not affect interaction with PEX6 or PEX26."; /evidence="ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118"; MUTAGEN 750; /note="K->E: In A2 mutant; abolished ATP-binding; decreased interaction with PEX1 or PEX26."; /evidence="ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118"; MUTAGEN 803; /note="D->N: In B2 mutant; does not affect interaction with PEX6 or PEX26."; /evidence="ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118
uniprot
proteins
protein_family
AAA ATPase family
uniprot
proteins
pubmed
10408779
uniprot
proteins
pubmed
11355018
uniprot
proteins
pubmed
12717447
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16314507
uniprot
proteins
pubmed
16854980
uniprot
proteins
pubmed
17041890
uniprot
proteins
pubmed
19105186
uniprot
proteins
pubmed
21362118
uniprot
proteins
pubmed
21937992
uniprot
proteins
pubmed
21980954
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
26387595
uniprot
proteins
pubmed
26593283
uniprot
proteins
pubmed
27302843
uniprot
proteins
pubmed
29884772
uniprot
proteins
pubmed
8670792
uniprot
proteins
pubmed
8940266
uniprot
proteins
sequence_length
980
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16854980}. Peroxisome membrane {ECO:0000269|PubMed:11355018, ECO:0000269|PubMed:12717447, ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:26593283}. Note=Associated with peroxisomal membranes; anchored by PEX26 to peroxisome membranes (PubMed:12717447, PubMed:16854980). Localized at the base of the outer segment of photoreceptor cells (PubMed:26593283). {ECO:0000269|PubMed:12717447, ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:26593283}.
uniprot
proteins