Human Gene PEX26 (uc002znp.4)
  Description: Homo sapiens peroxisomal biogenesis factor 26 (PEX26), transcript variant 1, mRNA.
RefSeq Summary (NM_017929): This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr22:18,560,686-18,573,797 Size: 13,112 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr22:18,561,143-18,570,841 Size: 9,699 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:18,560,686-18,573,797)mRNA (may differ from genome)Protein (305 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PEX26_HUMAN
DESCRIPTION: RecName: Full=Peroxisome assembly protein 26; AltName: Full=Peroxin-26;
FUNCTION: 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.
SUBUNIT: Interacts directly with PEX6 via its cytoplasmic domain. Interacts indirectly with PEX1, via its interaction with PEX6.
INTERACTION: Q9UMX1:SUFU; NbExp=2; IntAct=EBI-752057, EBI-740595;
SUBCELLULAR LOCATION: Peroxisome membrane; Single-pass type II membrane protein.
TISSUE SPECIFICITY: Widely expressed. Highly expressed in kidney, liver, brain and skeletal muscles. Expressed at intermediate level in pancreas, placenta and heart. Weakly expressed in lung.
DISEASE: Defects in PEX26 are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:608666]; also known as PBD-CGA. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: 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. The PBD group is genetically heterogeneous with at least 13 distinct genetic groups as concluded from complementation studies.
DISEASE: Defects in PEX26 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life.
DISEASE: Defects in PEX26 are a cause of adrenoleukodystrophy neonatal (NALD) [MIM:202370]. NALD is a peroxisome biogenesis disorder characterized by the accumulation of very long-chain fatty acids, adrenal insufficiency and mental retardation.
DISEASE: Defects in PEX26 are a cause of infantile Refsum disease (IRD) [MIM:266510]. IRD is a mild peroxisome biogenesis disorder. Clinical features include early onset, mental retardation, minor facial dysmorphism, retinopathy, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
MISCELLANEOUS: Effects of mutations are milder when fibroblasts from patients suffering of NALD or IRD diseases are cultured at 30 degrees Celsius instead of 37 degrees, possibly due to a better stability of PEX26 at lower temperatures, suggesting that some mutations affect the stability of PEX26.
SIMILARITY: Belongs to the peroxin-26 family.
SEQUENCE CAUTION: Sequence=BAA90920.1; Type=Erroneous termination; Positions=253; Note=Translated as Lys;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX26";
WEB RESOURCE: Name=dbPEX, PEX Gene Database; URL="http://www.dbpex.org/home.php?select_db=PEX26";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PEX26
CDC HuGE Published Literature: PEX26

-  MalaCards Disease Associations
  MalaCards Gene Search: PEX26
Diseases sorted by gene-association score: peroxisome biogenesis disorder 7b* (1230), peroxisome biogenesis disorder 7a* (1230), neonatal adrenoleukodystrophy* (169), peroxisome biogenesis disorders, zellweger syndrome spectrum* (141), peroxisome biogenesis disorder 1b* (139), zellweger syndrome (13), rhizomelic chondrodysplasia punctata (12), adrenoleukodystrophy (10), refsum disease (10), chromosome 17q12 deletion syndrome (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.48 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 126.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -101.50209-0.486 Picture PostScript Text
3' UTR -1247.372956-0.422 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010797 - Pex26

Pfam Domains:
PF07163 - Pex26 protein

ModBase Predicted Comparative 3D Structure on Q7Z412
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0044877 macromolecular complex binding
GO:0051117 ATPase binding

Biological Process:
GO:0006625 protein targeting to peroxisome
GO:0015031 protein transport
GO:0016558 protein import into peroxisome matrix
GO:0045046 protein import into peroxisome membrane

Cellular Component:
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005779 integral component of peroxisomal membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK000065 - Homo sapiens cDNA FLJ20058 fis, clone COL01338.
AK000702 - Homo sapiens cDNA FLJ20695 fis, clone KAIA2502.
LF384186 - JP 2014500723-A/191689: Polycomb-Associated Non-Coding RNAs.
BC016280 - Homo sapiens peroxisomal biogenesis factor 26, mRNA (cDNA clone MGC:8846 IMAGE:3910351), complete cds.
BC047320 - Homo sapiens peroxisomal biogenesis factor 26, mRNA (cDNA clone MGC:54167 IMAGE:5247852), complete cds.
AB089678 - Homo sapiens mRNA for Pex26p, complete cds.
JD141619 - Sequence 122643 from Patent EP1572962.
LF365643 - JP 2014500723-A/173146: Polycomb-Associated Non-Coding RNAs.
CR456362 - Homo sapiens Em:AC008101.3 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.Em:AC008101.3).
AB242826 - Homo sapiens PEX26intG231T mRNA for Pex26pintG231T, complete cds.
AB528206 - Synthetic construct DNA, clone: pF1KB0906, Homo sapiens PEX26 gene for Peroxin-26, without stop codon, in Flexi system.
KU178709 - Homo sapiens peroxisomal biogenesis factor 26 isoform 1 (PEX26) mRNA, partial cds.
KU178710 - Homo sapiens peroxisomal biogenesis factor 26 isoform 2 (PEX26) mRNA, partial cds, alternatively spliced.
KJ906238 - Synthetic construct Homo sapiens clone ccsbBroadEn_15908 PEX26 gene, encodes complete protein.
KJ899170 - Synthetic construct Homo sapiens clone ccsbBroadEn_08564 PEX26 gene, encodes complete protein.
AB103104 - Homo sapiens PEX26T35insC mRNA for Pex26pT35insC, complete cds.
AB103105 - Homo sapiens PEX26T35insC/del223-271 mRNA for Pex26pT35insC/del223-271, complete cds.
AB103106 - Homo sapiens PEX26G89R mRNA for Pex26pG89R, complete cds.
AB103107 - Homo sapiens PEX26R98W mRNA for Pex26pR98W, complete cds.
AB103109 - Homo sapiens PEX26L45P mRNA for Pex26pL45P, complete cds.
AB103110 - Homo sapiens PEX26G255insT mRNA for Pex26pG255insT, complete cds.
AB242828 - Homo sapiens PEX26C350T mRNA for Pex26pP117L, complete cds.
AB242829 - Homo sapiens PEX26C292T mRNA for Pex26pR98W, complete cds.
AB242830 - Homo sapiens PEX26T131C mRNA for Pex26pL44P, complete cds.
CU013361 - Homo sapiens PEX26, mRNA (cDNA clone IMAGE:100000235), complete cds, without stop codon, in Gateway system.
CU013073 - Homo sapiens PEX26, mRNA (cDNA clone IMAGE:100000331), complete cds, with stop codon, in Gateway system.
AB242827 - Homo sapiens PEX26C457G+C861del mRNA for Pex26pL153V/fs/Ter, complete cds.
AB103108 - Homo sapiens PEX26M1T mRNA for Pex26pM1T, partial cds.
LF365644 - JP 2014500723-A/173147: Polycomb-Associated Non-Coding RNAs.
LF365645 - JP 2014500723-A/173148: Polycomb-Associated Non-Coding RNAs.
LF365649 - JP 2014500723-A/173152: Polycomb-Associated Non-Coding RNAs.
JD461523 - Sequence 442547 from Patent EP1572962.
JD141800 - Sequence 122824 from Patent EP1572962.
JD081144 - Sequence 62168 from Patent EP1572962.
JD431932 - Sequence 412956 from Patent EP1572962.
JD360880 - Sequence 341904 from Patent EP1572962.
JD068566 - Sequence 49590 from Patent EP1572962.
JD470359 - Sequence 451383 from Patent EP1572962.
JD373656 - Sequence 354680 from Patent EP1572962.
JD451027 - Sequence 432051 from Patent EP1572962.
JD125231 - Sequence 106255 from Patent EP1572962.
JD446075 - Sequence 427099 from Patent EP1572962.
JD294532 - Sequence 275556 from Patent EP1572962.
JD219101 - Sequence 200125 from Patent EP1572962.
JD328246 - Sequence 309270 from Patent EP1572962.
JD425572 - Sequence 406596 from Patent EP1572962.
LF365650 - JP 2014500723-A/173153: Polycomb-Associated Non-Coding RNAs.
JD560457 - Sequence 541481 from Patent EP1572962.
JD475329 - Sequence 456353 from Patent EP1572962.
JD374447 - Sequence 355471 from Patent EP1572962.
JD351748 - Sequence 332772 from Patent EP1572962.
JD556567 - Sequence 537591 from Patent EP1572962.
JD127310 - Sequence 108334 from Patent EP1572962.
JD459529 - Sequence 440553 from Patent EP1572962.
JD145770 - Sequence 126794 from Patent EP1572962.
JD541695 - Sequence 522719 from Patent EP1572962.
JD516495 - Sequence 497519 from Patent EP1572962.
JD172318 - Sequence 153342 from Patent EP1572962.
JD315241 - Sequence 296265 from Patent EP1572962.
JD165109 - Sequence 146133 from Patent EP1572962.
JD498768 - Sequence 479792 from Patent EP1572962.
JD540364 - Sequence 521388 from Patent EP1572962.
JD107711 - Sequence 88735 from Patent EP1572962.
JD341550 - Sequence 322574 from Patent EP1572962.
JD560526 - Sequence 541550 from Patent EP1572962.
MA619763 - JP 2018138019-A/191689: Polycomb-Associated Non-Coding RNAs.
MA601220 - JP 2018138019-A/173146: Polycomb-Associated Non-Coding RNAs.
MA601221 - JP 2018138019-A/173147: Polycomb-Associated Non-Coding RNAs.
MA601222 - JP 2018138019-A/173148: Polycomb-Associated Non-Coding RNAs.
MA601226 - JP 2018138019-A/173152: Polycomb-Associated Non-Coding RNAs.
MA601227 - JP 2018138019-A/173153: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04146 - Peroxisome

Reactome (by CSHL, EBI, and GO)

Protein Q7Z412 (Reactome details) participates in the following event(s):

R-HSA-9033516 Ub:PEX5L (in PEX2:PEX10:PEX12:Ub:PEX5L:PEX7:PEX13:PEX14) binds PEX1:PEX6:PEX26 and ZFAND6
R-HSA-9033533 Ub:PEX5S,L (in PEX2:PEX10:PEX12:Ub:PEX5S:PEX13:PEX14) binds PEX1:PEX6:PEX26 and ZFAND6
R-HSA-9033241 Peroxisomal protein import
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: NM_017929, NP_060399, PEX26_HUMAN, Q7Z412, Q7Z413, Q7Z414, Q7Z415, Q7Z416, Q96B12, Q9NWQ0, Q9NXU0
UCSC ID: uc002znp.4
RefSeq Accession: NM_017929
Protein: Q7Z412 (aka PEX26_HUMAN or PEXQ_HUMAN)
CCDS: CCDS13750.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PEX26:
pbd (Zellweger Spectrum Disorder)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017929.5
exon count: 6CDS single in 3' UTR: no RNA size: 4093
ORF size: 918CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1922.00frame shift in genome: no % Coverage: 99.76
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.