PEX6

Protein identityUniProt · HPA

UniProt accession

Q13608

Gene

PEX6

Ensembl

ENSG00000124587

Chromosome

6

Canonical length

980 aa

Protein class

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

Subcellular location

Golgi apparatus,Cytosol

OverviewNCBI Gene

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Canonical amino-acid sequenceUniProt

980 residues, UniProt reviewed canonical sequence.

>Q13608|PEX6
     1  MALAVLRVLE PFPTETPPLA VLLPPGGPWP AAELGLVLAL RPAGESPAGP ALLVAALEGP
    61  DAGTEEQGPG PPQLLVSRAL LRLLALGSGA WVRARAVRRP PALGWALLGT SLGPGLGPRV
   121  GPLLVRRGET LPVPGPRVLE TRPALQGLLG PGTRLAVTEL RGRARLCPES GDSSRPPPPP
   181  VVSSFAVSGT VRRLQGVLGG TGDSLGVSRS CLRGLGLFQG EWVWVAQARE SSNTSQPHLA
   241  RVQVLEPRWD LSDRLGPGSG PLGEPLADGL ALVPATLAFN LGCDPLEMGE LRIQRYLEGS
   301  IAPEDKGSCS LLPGPPFARE LHIEIVSSPH YSTNGNYDGV LYRHFQIPRV VQEGDVLCVP
   361  TIGQVEILEG SPEKLPRWRE MFFKVKKTVG EAPDGPASAY LADTTHTSLY MVGSTLSPVP
   421  WLPSEESTLW SSLSPPGLEA LVSELCAVLK PRLQPGGALL TGTSSVLLRG PPGCGKTTVV
   481  AAACSHLGLH LLKVPCSSLC AESSGAVETK LQAIFSRARR CRPAVLLLTA VDLLGRDRDG
   541  LGEDARVMAV LRHLLLNEDP LNSCPPLMVV ATTSRAQDLP ADVQTAFPHE LEVPALSEGQ
   601  RLSILRALTA HLPLGQEVNL AQLARRCAGF VVGDLYALLT HSSRAACTRI KNSGLAGGLT
   661  EEDEGELCAA GFPLLAEDFG QALEQLQTAH SQAVGAPKIP SVSWHDVGGL QEVKKEILET
   721  IQLPLEHPEL LSLGLRRSGL LLHGPPGTGK TLLAKAVATE CSLTFLSVKG PELINMYVGQ
   781  SEENVREVFA RARAAAPCII FFDELDSLAP SRGRSGDSGG VMDRVVSQLL AELDGLHSTQ
   841  DVFVIGATNR PDLLDPALLR PGRFDKLVFV GANEDRASQL RVLSAITRKF KLEPSVSLVN
   901  VLDCCPPQLT GADLYSLCSD AMTAALKRRV HDLEEGLEPG SSALMLTMED LLQAAARLQP
   961  SVSEQELLRY KRIQRKFAAC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PEX6 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)

0.32

Highest tissue expression

72 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PEX6.

Disease | AllUniProt

Conditions PEX6 is implicated in, by any mechanism.

• Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) MIM:614862
• Peroxisome biogenesis disorder 4A (PBD4A) MIM:614862
• Peroxisome biogenesis disorder 4B (PBD4B) MIM:614863
• Heimler syndrome 2 (HMLR2) MIM:616617

Disease | GeneticClinVar

303 pathogenic / likely-pathogenic of 1,971 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Peroxisome biogenesis disorder
• Heimler syndrome 2
• Peroxisome biogenesis disorder 4A (Zellweger)
• Peroxisome biogenesis disorder 4B
• Zellweger spectrum disorders

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)

0.65

gnomAD pLI

0

gnomAD missense Z

1.44

DepMap mean gene effect

-0.27

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• peroxisome organization
• protein import into peroxisome matrix
• protein import into peroxisome matrix, receptor recycling
• protein import into peroxisome matrix, translocation
• protein stabilization
• 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
• peroxisomal membrane
• peroxisome
• photoreceptor cell cilium
• photoreceptor outer segment

Protein domainsUniProt · Pfam · InterPro

• AAA+ ATPase domain
• ATPase, AAA-type, core
• ATPase, AAA-type, conserved site
• P-loop containing nucleoside triphosphate hydrolase
• AAA ATPase domain-containing protein
• ATPase family associated with various cellular activities (AAA)
• Peroxisomal biogenesis factor 6, second ATPase domain
• Peroxisomal ATPase PEX6, double psi barrel domain
• Peroxisomal ATPase PEX6, N-terminal domain
• PEX6 N-terminal domain
• PEX6 double psi barrel domain

KeywordsUniProt

• Amelogenesis imperfecta
• ATP-binding
• Cell projection
• Cytoplasm
• Deafness
• Hydrolase
• Membrane
• Methylation
• Nucleotide-binding
• Peroxisome
• Peroxisome biogenesis
• Peroxisome biogenesis disorder
• Repeat
• Zellweger syndrome

InteractionsUniProt · HPA

Protein binding partners of PEX6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PEX1
• PEX26
• ZFAND6