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Q7Z412 (PEX26_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peroxisome assembly protein 26
Alternative name(s):
Peroxin-26
Gene names
Name:PEX26
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length305 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.1 Ref.2

Subunit structure

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

Subcellular location

Peroxisome membrane; Single-pass type II membrane protein Ref.1.

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. Ref.2

Involvement in disease

Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872]: A 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).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2

Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2

Sequence similarities

Belongs to the peroxin-26 family.

Sequence caution

The sequence BAA90920.1 differs from that shown. Reason: Erroneous termination at position 253. Translated as Lys.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PEX19P408556EBI-752057,EBI-594747
SUFUQ9UMX12EBI-752057,EBI-740595

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z412-1)

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.
Isoform 2 (identifier: Q7Z412-2)

The sequence of this isoform differs from the canonical sequence as follows:
     223-271: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 305305Peroxisome assembly protein 26
PRO_0000058340

Regions

Topological domain1 – 246246Cytoplasmic Potential
Transmembrane247 – 26721Helical; Signal-anchor for type II membrane protein; Potential
Topological domain268 – 30538Peroxisomal matrix Potential

Natural variations

Alternative sequence223 – 27149Missing in isoform 2.
VSP_053499
Natural variant451L → P in PBD7B; infantile Refsum disease. Ref.2
VAR_018647
Natural variant891G → R in PBD7A. Ref.2
VAR_018648
Natural variant981R → W in PBD7B; neonatal adrenoleukodystrophy; affects the interaction with PEX6. Ref.1 Ref.2
VAR_018649
Natural variant1531L → V. Ref.9
Corresponds to variant rs12484657 [ dbSNP | Ensembl ].
VAR_034146

Experimental info

Sequence conflict3041R → H in AAH16280. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 24, 2004. Version 2.
Checksum: 0B9FCF8E2B3178E1

FASTA30533,898
        10         20         30         40         50         60 
MKSDSSTSAA PLRGLGGPLR SSEPVRAVPA RAPAVDLLEE AADLLVVHLD FRAALETCER 

        70         80         90        100        110        120 
AWQSLANHAV AEEPAGTSLE VKCSLCVVGI QALAEMDRWQ EVLSWVLQYY QVPEKLPPKV 

       130        140        150        160        170        180 
LELCILLYSK MQEPGAVLDV VGAWLQDPAN QNLPEYGALA EFHVQRVLLP LGCLSEAEEL 

       190        200        210        220        230        240 
VVGSAAFGEE RRLDVLQAIH TARQQQKQEH SGSEEAQKPN LEGSVSHKFL SLPMLVRQLW 

       250        260        270        280        290        300 
DSAVSHFFSL PFKKSLLAAL ILCLLVVRFD PASPSSLHFL YKLAQLFRWI RKAAFSRLYQ 


LRIRD 

« Hide

Isoform 2 [UniParc].

Checksum: D53D85F08A6DA5BB
Show »

FASTA25628,388

References

« Hide 'large scale' references
[1]"The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes."
Matsumoto N., Tamura S., Fujiki Y.
Nat. Cell Biol. 5:454-460(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, DISEASE, INTERACTION WITH PEX1 AND PEX6, VARIANT PBD7B TRP-98.
Tissue: Fibroblast.
[2]"Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation."
Matsumoto N., Tamura S., Furuki S., Miyata N., Moser A., Shimozawa N., Moser H.W., Suzuki Y., Kondo N., Fujiki Y.
Am. J. Hum. Genet. 73:233-246(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, VARIANT PBD7A ARG-89, VARIANTS PBD7B PRO-45 AND TRP-98.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Colon and Ileal mucosa.
[4]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain and Uterus.
[7]"Shotgun sequencing of the human transcriptome with ORF expressed sequence tags."
Dias Neto E., Correa R.G., Verjovski-Almeida S., Briones M.R.S., Nagai M.A., da Silva W. Jr., Zago M.A., Bordin S., Costa F.F., Goldman G.H., Carvalho A.F., Matsukuma A., Baia G.S., Simpson D.H., Brunstein A., de Oliveira P.S.L., Bucher P., Jongeneel C.V. expand/collapse author list , O'Hare M.J., Soares F., Brentani R.R., Reis L.F.L., de Souza S.J., Simpson A.J.G.
Proc. Natl. Acad. Sci. U.S.A. 97:3491-3496(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 91-305 (ISOFORM 2).
[8]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders."
Yik W.Y., Steinberg S.J., Moser A.B., Moser H.W., Hacia J.G.
Hum. Mutat. 30:E467-E480(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT VAL-153.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS13750.1.
CCDS56221.1. [Q7Z412-2]
RefSeqNP_001121121.1. NM_001127649.2. [Q7Z412-1]
NP_001186248.1. NM_001199319.1. [Q7Z412-2]
NP_060399.1. NM_017929.5. [Q7Z412-1]
UniGeneHs.517400.

3D structure databases

ProteinModelPortalQ7Z412.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120802. 6 interactions.
IntActQ7Z412. 6 interactions.
MINTMINT-7995635.
STRING9606.ENSP00000331106.

Protein family/group databases

TCDB3.A.20.1.1. the peroxisomal protein importer (ppi) family.

PTM databases

PhosphoSiteQ7Z412.

Polymorphism databases

DMDM47606028.

Proteomic databases

MaxQBQ7Z412.
PaxDbQ7Z412.
PRIDEQ7Z412.

Protocols and materials databases

DNASU55670.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000329627; ENSP00000331106; ENSG00000215193. [Q7Z412-1]
ENST00000399744; ENSP00000382648; ENSG00000215193. [Q7Z412-1]
ENST00000428061; ENSP00000412441; ENSG00000215193. [Q7Z412-2]
GeneID55670.
KEGGhsa:55670.
UCSCuc002znp.4. human. [Q7Z412-1]

Organism-specific databases

CTD55670.
GeneCardsGC22P018560.
GeneReviewsPEX26.
H-InvDBHIX0016222.
HGNCHGNC:22965. PEX26.
MIM608666. gene.
614872. phenotype.
614873. phenotype.
neXtProtNX_Q7Z412.
Orphanet772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBPA134983458.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44501.
HOVERGENHBG053574.
KOK13340.
OMALLYSKVG.
OrthoDBEOG712TWV.
PhylomeDBQ7Z412.
TreeFamTF332318.

Gene expression databases

ArrayExpressQ7Z412.
BgeeQ7Z412.
CleanExHS_PEX26.
GenevestigatorQ7Z412.

Family and domain databases

InterProIPR010797. Pex26.
[Graphical view]
PfamPF07163. Pex26. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPEX26.
GenomeRNAi55670.
NextBio60440.
PROQ7Z412.
SOURCESearch...

Entry information

Entry namePEX26_HUMAN
AccessionPrimary (citable) accession number: Q7Z412
Secondary accession number(s): F6UBB5 expand/collapse secondary AC list , Q7Z413, Q7Z414, Q7Z415, Q7Z416, Q96B12, Q9NWQ0, Q9NXU0
Entry history
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: July 9, 2014
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM