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Protein

Peroxisome assembly protein 26

Gene

PEX26

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a PTS1 target sequence.2 Publications

GO - Molecular functioni

  • ATPase binding Source: UniProtKB
  • protein-containing complex binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-9033241 Peroxisomal protein import
SIGNORiQ7Z412

Protein family/group databases

TCDBi3.A.20.1.1 the peroxisomal protein importer (ppi) family

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisome assembly protein 26
Alternative name(s):
Peroxin-26
Gene namesi
Name:PEX26
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000215193.12
HGNCiHGNC:22965 PEX26
MIMi608666 gene
neXtProtiNX_Q7Z412

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 246CytoplasmicSequence analysisAdd BLAST246
Transmembranei247 – 267Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini268 – 305Peroxisomal matrixSequence analysisAdd BLAST38

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Peroxisome biogenesis disorder complementation group 8 (PBD-CG8)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:614872
Peroxisome biogenesis disorder 7A (PBD7A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614872
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01864889G → R in PBD7A. 1 PublicationCorresponds to variant dbSNP:rs28940308EnsemblClinVar.1
Peroxisome biogenesis disorder 7B (PBD7B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614873
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01864745L → P in PBD7B; infantile Refsum disease. 1 PublicationCorresponds to variant dbSNP:rs61752132EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

DisGeNETi55670
GeneReviewsiPEX26
MalaCardsiPEX26
MIMi614872 phenotype
614873 phenotype
OpenTargetsiENSG00000215193
Orphaneti772 Infantile Refsum disease
44 Neonatal adrenoleukodystrophy
912 Zellweger syndrome
PharmGKBiPA134983458

Polymorphism and mutation databases

BioMutaiPEX26
DMDMi47606028

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000583401 – 305Peroxisome assembly protein 26Add BLAST305

Proteomic databases

MaxQBiQ7Z412
PaxDbiQ7Z412
PeptideAtlasiQ7Z412
PRIDEiQ7Z412

PTM databases

iPTMnetiQ7Z412
PhosphoSitePlusiQ7Z412

Expressioni

Tissue specificityi

Widely expressed. Highly expressed in kidney, liver, brain and skeletal muscles. Expressed at intermediate level in pancreas, placenta and heart. Weakly expressed in lung.1 Publication

Gene expression databases

BgeeiENSG00000215193
CleanExiHS_PEX26
ExpressionAtlasiQ7Z412 baseline and differential
GenevisibleiQ7Z412 HS

Organism-specific databases

HPAiCAB070429

Interactioni

Subunit structurei

Interacts directly with PEX6 via its cytoplasmic domain. Interacts indirectly with PEX1, via its interaction with PEX6.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • ATPase binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120802, 5 interactors
CORUMiQ7Z412
IntActiQ7Z412, 6 interactors
MINTiQ7Z412
STRINGi9606.ENSP00000331106

Structurei

3D structure databases

ProteinModelPortaliQ7Z412
SMRiQ7Z412
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peroxin-26 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEAS Eukaryota
ENOG4111ZGY LUCA
GeneTreeiENSGT00510000049725
HOVERGENiHBG053574
InParanoidiQ7Z412
KOiK13340
OMAiLAEMNRW
OrthoDBiEOG091G0KX2
PhylomeDBiQ7Z412
TreeFamiTF332318

Family and domain databases

InterProiView protein in InterPro
IPR010797 Pex26
PANTHERiPTHR16262 PTHR16262, 1 hit
PfamiView protein in Pfam
PF07163 Pex26, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z412-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKSDSSTSAA PLRGLGGPLR SSEPVRAVPA RAPAVDLLEE AADLLVVHLD
60 70 80 90 100
FRAALETCER AWQSLANHAV AEEPAGTSLE VKCSLCVVGI QALAEMDRWQ
110 120 130 140 150
EVLSWVLQYY QVPEKLPPKV LELCILLYSK MQEPGAVLDV VGAWLQDPAN
160 170 180 190 200
QNLPEYGALA EFHVQRVLLP LGCLSEAEEL VVGSAAFGEE RRLDVLQAIH
210 220 230 240 250
TARQQQKQEH SGSEEAQKPN LEGSVSHKFL SLPMLVRQLW DSAVSHFFSL
260 270 280 290 300
PFKKSLLAAL ILCLLVVRFD PASPSSLHFL YKLAQLFRWI RKAAFSRLYQ

LRIRD
Length:305
Mass (Da):33,898
Last modified:May 24, 2004 - v2
Checksum:i0B9FCF8E2B3178E1
GO
Isoform 2 (identifier: Q7Z412-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     223-271: Missing.

Note: No experimental confirmation available.
Show »
Length:256
Mass (Da):28,388
Checksum:iD53D85F08A6DA5BB
GO

Sequence cautioni

The sequence BAA90920 differs from that shown. Reason: Erroneous termination at position 253. Translated as Lys.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti304R → H in AAH16280 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01864745L → P in PBD7B; infantile Refsum disease. 1 PublicationCorresponds to variant dbSNP:rs61752132EnsemblClinVar.1
Natural variantiVAR_01864889G → R in PBD7A. 1 PublicationCorresponds to variant dbSNP:rs28940308EnsemblClinVar.1
Natural variantiVAR_01864998R → W in PBD7B and PBD-CG8; neonatal adrenoleukodystrophy; affects the interaction with PEX6. 3 PublicationsCorresponds to variant dbSNP:rs62641228EnsemblClinVar.1
Natural variantiVAR_034146153L → V1 PublicationCorresponds to variant dbSNP:rs12484657EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_053499223 – 271Missing in isoform 2. 1 PublicationAdd BLAST49

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB089678 mRNA Translation: BAC66616.1
AB103106 mRNA Translation: BAC78804.1
AB103107 mRNA Translation: BAC78805.1
AB103108 mRNA Translation: BAC78806.1
AB103109 mRNA Translation: BAC78807.1
AB103110 mRNA Translation: BAC78808.1
AK000065 mRNA Translation: BAA90920.1 Sequence problems.
AK000702 mRNA Translation: BAA91329.1
CR456362 mRNA Translation: CAG30248.1
AC008079 Genomic DNA No translation available.
AC016027 Genomic DNA No translation available.
BC016280 mRNA Translation: AAH16280.1
BC047320 mRNA Translation: AAH47320.1
BF930319 mRNA No translation available.
CCDSiCCDS13750.1 [Q7Z412-1]
CCDS56221.1 [Q7Z412-2]
RefSeqiNP_001121121.1, NM_001127649.2 [Q7Z412-1]
NP_001186248.1, NM_001199319.1 [Q7Z412-2]
NP_060399.1, NM_017929.5 [Q7Z412-1]
UniGeneiHs.517400

Genome annotation databases

EnsembliENST00000329627; ENSP00000331106; ENSG00000215193 [Q7Z412-1]
ENST00000399744; ENSP00000382648; ENSG00000215193 [Q7Z412-1]
ENST00000428061; ENSP00000412441; ENSG00000215193 [Q7Z412-2]
ENST00000610387; ENSP00000482091; ENSG00000215193 [Q7Z412-2]
GeneIDi55670
KEGGihsa:55670
UCSCiuc002znp.5 human [Q7Z412-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPEX26_HUMAN
AccessioniPrimary (citable) accession number: Q7Z412
Secondary accession number(s): F6UBB5
, Q7Z413, Q7Z414, Q7Z415, Q7Z416, Q96B12, Q9NWQ0, Q9NXU0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: May 23, 2018
This is version 136 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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