PEX1
entrez
5189
canonical
uniprot
O43933
canonical
ensembl
ENSG00000127980
resolver
ensp
ENSP00000248633
resolver
ensp
ENSP00000394413
resolver
ensp
ENSP00000681627
resolver
enst
ENST00000428214
resolver
genesymbol
PEX1
resolver
hgnc
HGNC:8850
resolver
uniprot
A0A0C4DG33
resolver
uniprot
A4D1G3
resolver
uniprot
A8KA90
resolver
uniprot
B4DER6
resolver
uniprot
B4DIM7
resolver
uniprot
E9PE75
resolver
uniprot
Q96S71
resolver
uniprot
Q96S72
resolver
uniprot
Q96S73
resolver
uniprot
Q99994
resolver
uniprot_entry
A0A0C4DG33_HUMAN
resolver
uniprot_entry
B4DER6_HUMAN
resolver
uniprot_entry
PEX1_HUMAN
resolver
uniprot_sec
A4D1G3
resolver
uniprot_sec
A8KA90
resolver
uniprot_sec
B4DIM7
resolver
uniprot_sec
E9PE75
resolver
uniprot_sec
Q96S71
resolver
uniprot_sec
Q96S72
resolver
uniprot_sec
Q96S73
resolver
uniprot_sec
Q99994
resolver
amino_acid_sequence
MWGSDRLAGAGGGGAAVTVAFTNARDCFLHLPRRLVAQLHLLQNQAIEVVWSHQPAFLSWVEGRHFSDQGENVAEINRQVGQKLGLSNGGQVFLKPCSHVVSCQQVEVEPLSADDWEILELHAVSLEQHLLDQIRIVFPKAIFPVWVDQQTYIFIQIVALIPAASYGRLETDTKLLIQPKTRRAKENTFSKADAEYKKLHSYGRDQKGMMKELQTKQLQSNTVGITESNENESEIPVDSSSVASLWTMIGSIFSFQSEKKQETSWGLTEINAFKNMQSKVVPLDNIFRVCKSQPPSIYNASATSVFHKHCAIHVFPWDQEYFDVEPSFTVTYGKLVKLLSPKQQQSKTKQNVLSPEKEKQMSEPLDQKKIRSDHNEEDEKACVLQVVWNGLEELNNAIKYTKNVEVLHLGKVWIPDDLRKRLNIEMHAVVRITPVEVTPKIPRSLKLQPRENLPKDISEEDIKTVFYSWLQQSTTTMLPLVISEEEFIKLETKDGLKEFSLSIVHSWEKEKDKNIFLLSPNLLQKTTIQVLLDPMVKEENSEEIDFILPFLKLSSLGGVNSLGVSSLEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGGKGSGKSTLAKAICKEAFDKLDAHVERVDCKALRGKRLENIQKTLEVAFSEAVWMQPSVVLLDDLDLIAGLPAVPEHEHSPDAVQSQRLAHALNDMIKEFISMGSLVALIATSQSQQSLHPLLVSAQGVHIFQCVQHIQPPNQEQRCEILCNVIKNKLDCDINKFTDLDLQHVAKETGGFVARDFTVLVDRAIHSRLSRQSISTREKLVLTTLDFQKALRGFLPASLRSVNLHKPRDLGWDKIGGLHEVRQILMDTIQLPAKYPELFANLPIRQRTGILLYGPPGTGKTLLAGVIARESRMNFISVKGPELLSKYIGASEQAVRDIFIRAQAAKPCILFFDEFESIAPRRGHDNTGVTDRVVNQLLTQLDGVEGLQGVYVLAATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVLSDSLPLADDVDLQHVASVTDSFTGADLKALLYNAQLEALHGMLLSSGLQDGSSSSDSDLSLSSMVFLNHSSGSDDSAGDGECGLDQSLVSLEMSEILPDESKFNMYRLYFGSSYESELGNGTSSDLSSQCLSAPSSMTQDLPGVPGKDQLFSQPPVLRTASQEGCQELTQEQRDQLRADISIIKGRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDDWKNFAELYESFQNPKRRKNQSGTMFRPGQKVTLA
uniprot
proteins
disease_involvement
DISEASE: Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]: 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 1A (PBD1A) [MIM:214100]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD1A is an autosomal recessive systemic disorder characterized clinically 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:16854980, ECO:0000269|PubMed:32069232, ECO:0000269|PubMed:33708531, ECO:0000269|PubMed:33955040, ECO:0000269|PubMed:9398847, ECO:0000269|PubMed:9398848, ECO:0000269|PubMed:9539740}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]: 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:11439091, ECO:0000269|PubMed:16088892, ECO:0000269|PubMed:9398847, ECO:0000269|PubMed:9539740}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Heimler syndrome 1 (HMLR1) [MIM:234580]: 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: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:11439091, 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:11439091, ECO:0000269|PubMed:16314507, ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118, ECO:0000269|PubMed:29884772}.
uniprot
proteins
mass_dalton
142867
uniprot
proteins
mutagenesis
MUTAGEN 605; /note="K->E: In A1 mutant; abolished ATP-binding; decreased interaction with PEX6; decreased localization to peroxisomal membranes."; /evidence="ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118"; MUTAGEN 662; /note="D->N: In B1 mutant; abolished ATP hydrolysis; decreased interaction with PEX6; decreased localization to peroxisomal membranes."; /evidence="ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118"; MUTAGEN 887; /note="K->E: In A2 mutant; abolished ATP-binding; decreased interaction with PEX6; decreased localization to peroxisomal membranes."; /evidence="ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118"; MUTAGEN 940; /note="D->N: In B2 mutant; abolished ATP hydrolysis; does not affect interaction with PEX6; does not affect localization to peroxisomal membranes."; /evidence="ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118
uniprot
proteins
protein_family
AAA ATPase family
uniprot
proteins
pubmed
11439091
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12717447
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16088892
uniprot
proteins
pubmed
16314507
uniprot
proteins
pubmed
16854980
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19105186
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21362118
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26387595
uniprot
proteins
pubmed
27302843
uniprot
proteins
pubmed
29884772
uniprot
proteins
pubmed
32069232
uniprot
proteins
pubmed
33708531
uniprot
proteins
pubmed
33955040
uniprot
proteins
pubmed
9398847
uniprot
proteins
pubmed
9398848
uniprot
proteins
pubmed
9539740
uniprot
proteins
sequence_length
1283
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16854980}. Peroxisome membrane {ECO:0000269|PubMed:11439091, ECO:0000269|PubMed:12717447, ECO:0000269|PubMed:16854980, ECO:0000269|PubMed:21362118}. Note=Associated with peroxisomal membranes; anchored by PEX26 to peroxisome membranes. {ECO:0000269|PubMed:12717447, ECO:0000269|PubMed:16854980}.
uniprot
proteins