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Protein

Peroxisome assembly protein 26

Gene

PEX26

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 complex binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:G66-33476-MONOMER.

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

HGNCiHGNC:22965. PEX26.

Subcellular locationi

  • Peroxisome membrane 1 Publication; Single-pass type II membrane protein 1 Publication

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

GO - Cellular componenti

  • integral component of peroxisomal membrane Source: InterPro
  • peroxisome Source: UniProtKB
Complete GO annotation...

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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01864998R → W in PBD7B and PBD-CG8; neonatal adrenoleukodystrophy; affects the interaction with PEX6. 3 PublicationsCorresponds to variant rs62641228dbSNPEnsembl.1
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 rs28940308dbSNPEnsembl.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 rs61752132dbSNPEnsembl.1
Natural variantiVAR_01864998R → W in PBD7B and PBD-CG8; neonatal adrenoleukodystrophy; affects the interaction with PEX6. 3 PublicationsCorresponds to variant rs62641228dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

DisGeNETi55670.
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

EPDiQ7Z412.
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

WithEntry#Exp.IntActNotes
PEX19P408556EBI-752057,EBI-594747
SUFUQ9UMX12EBI-752057,EBI-740595

GO - Molecular functioni

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

Protein-protein interaction databases

BioGridi120802. 5 interactors.
IntActiQ7Z412. 6 interactors.
MINTiMINT-7995635.
STRINGi9606.ENSP00000331106.

Structurei

3D structure databases

ProteinModelPortaliQ7Z412.
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.
OMAiQMCILLY.
OrthoDBiEOG091G0KX2.
PhylomeDBiQ7Z412.
TreeFamiTF332318.

Family and domain databases

InterProiIPR010797. Pex26.
[Graphical view]
PANTHERiPTHR16262:SF2. PTHR16262:SF2. 1 hit.
PfamiPF07163. Pex26. 1 hit.
[Graphical view]

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 rs61752132dbSNPEnsembl.1
Natural variantiVAR_01864889G → R in PBD7A. 1 PublicationCorresponds to variant rs28940308dbSNPEnsembl.1
Natural variantiVAR_01864998R → W in PBD7B and PBD-CG8; neonatal adrenoleukodystrophy; affects the interaction with PEX6. 3 PublicationsCorresponds to variant rs62641228dbSNPEnsembl.1
Natural variantiVAR_034146153L → V.1 PublicationCorresponds to variant rs12484657dbSNPEnsembl.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

Cross-referencesi

Web resourcesi

dbPEX, PEX Gene Database

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.

3D structure databases

ProteinModelPortaliQ7Z412.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120802. 5 interactors.
IntActiQ7Z412. 6 interactors.
MINTiMINT-7995635.
STRINGi9606.ENSP00000331106.

Protein family/group databases

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

PTM databases

iPTMnetiQ7Z412.
PhosphoSitePlusiQ7Z412.

Polymorphism and mutation databases

BioMutaiPEX26.
DMDMi47606028.

Proteomic databases

EPDiQ7Z412.
MaxQBiQ7Z412.
PaxDbiQ7Z412.
PeptideAtlasiQ7Z412.
PRIDEiQ7Z412.

Protocols and materials databases

DNASUi55670.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi55670.
DisGeNETi55670.
GeneCardsiPEX26.
GeneReviewsiPEX26.
H-InvDBHIX0016222.
HGNCiHGNC:22965. PEX26.
HPAiCAB070429.
MalaCardsiPEX26.
MIMi608666. gene.
614872. phenotype.
614873. phenotype.
neXtProtiNX_Q7Z412.
OpenTargetsiENSG00000215193.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA134983458.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEAS. Eukaryota.
ENOG4111ZGY. LUCA.
GeneTreeiENSGT00510000049725.
HOVERGENiHBG053574.
InParanoidiQ7Z412.
KOiK13340.
OMAiQMCILLY.
OrthoDBiEOG091G0KX2.
PhylomeDBiQ7Z412.
TreeFamiTF332318.

Enzyme and pathway databases

BioCyciZFISH:G66-33476-MONOMER.

Miscellaneous databases

ChiTaRSiPEX26. human.
GeneWikiiPEX26.
GenomeRNAii55670.
PROiQ7Z412.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000215193.
CleanExiHS_PEX26.
ExpressionAtlasiQ7Z412. baseline and differential.
GenevisibleiQ7Z412. HS.

Family and domain databases

InterProiIPR010797. Pex26.
[Graphical view]
PANTHERiPTHR16262:SF2. PTHR16262:SF2. 1 hit.
PfamiPF07163. Pex26. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPEX26_HUMAN
AccessioniPrimary (citable) accession number: Q7Z412
Secondary accession number(s): F6UBB5
, Q7Z413, Q7Z414, Q7Z415, Q7Z416, Q96B12, Q9NWQ0, Q9NXU0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: November 2, 2016
This is version 127 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.