PEX1

Protein identityUniProt · HPA

UniProt accession

O43933

Gene

PEX1

Ensembl

ENSG00000127980

Chromosome

7

Canonical length

1283 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters

Subcellular location

Peroxisomes

Quaternary structure

Homooligomer

OverviewNCBI Gene

This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

Canonical amino-acid sequenceUniProt

1283 residues, UniProt reviewed canonical sequence.

>O43933|PEX1
     1  MWGSDRLAGA GGGGAAVTVA FTNARDCFLH LPRRLVAQLH LLQNQAIEVV WSHQPAFLSW
    61  VEGRHFSDQG ENVAEINRQV GQKLGLSNGG QVFLKPCSHV VSCQQVEVEP LSADDWEILE
   121  LHAVSLEQHL LDQIRIVFPK AIFPVWVDQQ TYIFIQIVAL IPAASYGRLE TDTKLLIQPK
   181  TRRAKENTFS KADAEYKKLH SYGRDQKGMM KELQTKQLQS NTVGITESNE NESEIPVDSS
   241  SVASLWTMIG SIFSFQSEKK QETSWGLTEI NAFKNMQSKV VPLDNIFRVC KSQPPSIYNA
   301  SATSVFHKHC AIHVFPWDQE YFDVEPSFTV TYGKLVKLLS PKQQQSKTKQ NVLSPEKEKQ
   361  MSEPLDQKKI RSDHNEEDEK ACVLQVVWNG LEELNNAIKY TKNVEVLHLG KVWIPDDLRK
   421  RLNIEMHAVV RITPVEVTPK IPRSLKLQPR ENLPKDISEE DIKTVFYSWL QQSTTTMLPL
   481  VISEEEFIKL ETKDGLKEFS LSIVHSWEKE KDKNIFLLSP NLLQKTTIQV LLDPMVKEEN
   541  SEEIDFILPF LKLSSLGGVN SLGVSSLEHI THSLLGRPLS RQLMSLVAGL RNGALLLTGG
   601  KGSGKSTLAK AICKEAFDKL DAHVERVDCK ALRGKRLENI QKTLEVAFSE AVWMQPSVVL
   661  LDDLDLIAGL PAVPEHEHSP DAVQSQRLAH ALNDMIKEFI SMGSLVALIA TSQSQQSLHP
   721  LLVSAQGVHI FQCVQHIQPP NQEQRCEILC NVIKNKLDCD INKFTDLDLQ HVAKETGGFV
   781  ARDFTVLVDR AIHSRLSRQS ISTREKLVLT TLDFQKALRG FLPASLRSVN LHKPRDLGWD
   841  KIGGLHEVRQ ILMDTIQLPA KYPELFANLP IRQRTGILLY GPPGTGKTLL AGVIARESRM
   901  NFISVKGPEL LSKYIGASEQ AVRDIFIRAQ AAKPCILFFD EFESIAPRRG HDNTGVTDRV
   961  VNQLLTQLDG VEGLQGVYVL AATSRPDLID PALLRPGRLD KCVYCPPPDQ VSRLEILNVL
  1021  SDSLPLADDV DLQHVASVTD SFTGADLKAL LYNAQLEALH GMLLSSGLQD GSSSSDSDLS
  1081  LSSMVFLNHS SGSDDSAGDG ECGLDQSLVS LEMSEILPDE SKFNMYRLYF GSSYESELGN
  1141  GTSSDLSSQC LSAPSSMTQD LPGVPGKDQL FSQPPVLRTA SQEGCQELTQ EQRDQLRADI
  1201  SIIKGRYRSQ SGEDESMNQP GPIKTRLAIS QSHLMTALGH TRPSISEDDW KNFAELYESF
  1261  QNPKRRKNQS GTMFRPGQKV TLA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PEX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

13 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PEX1.

Disease | AllUniProt

Conditions PEX1 is implicated in, by any mechanism.

• Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) MIM:214100
• Peroxisome biogenesis disorder 1A (PBD1A) MIM:214100
• Peroxisome biogenesis disorder 1B (PBD1B) MIM:601539
• Heimler syndrome 1 (HMLR1) MIM:234580

Disease | GeneticClinVar

469 pathogenic / likely-pathogenic of 2,109 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Zellweger spectrum disorders
• Heimler syndrome 1
• Peroxisome biogenesis disorder 1A (Zellweger)
• Peroxisome biogenesis disorder 1B
• Peroxisome biogenesis disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.66

gnomAD pLI

0

gnomAD missense Z

1.14

DepMap mean gene effect

-0.3

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• microtubule-based peroxisome localization
• peroxisome organization
• protein import into peroxisome matrix
• protein import into peroxisome matrix, receptor recycling
• protein targeting to peroxisome
• protein unfolding

Molecular functions

• ATP binding
• ATP hydrolysis activity
• protein transporter activity
• protein-containing complex binding
• ubiquitin-modified protein reader activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome
• peroxisomal membrane
• peroxisome

Protein domainsUniProt · Pfam · InterPro

• AAA+ ATPase domain
• ATPase, AAA-type, core
• ATPase, AAA-type, conserved site
• Aspartate decarboxylase-like domain superfamily
• P-loop containing nucleoside triphosphate hydrolase
• CDC48 domain 2-like superfamily
• AAA ATPase, AAA+ lid domain
• AAA ATPase domain-containing protein
• ATPase family associated with various cellular activities (AAA)
• AAA+ lid domain
• Peroxisomal ATPase PEX1, N-terminal C-lobe
• Peroxisomal ATPase PEX1, N-terminal N-lobe
• Peroxisome biogenesis factor 1, N-terminal
• Peroxisome biogenesis factor 1, N-terminal

KeywordsUniProt

• Amelogenesis imperfecta
• ATP-binding
• Cytoplasm
• Deafness
• Hydrolase
• Membrane
• Nucleotide-binding
• Peroxisome
• Peroxisome biogenesis
• Peroxisome biogenesis disorder
• Phosphoprotein
• Protein transport
• Repeat
• Transport
• Zellweger syndrome

InteractionsUniProt · HPA

Protein binding partners of PEX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PEX6
• PEX26