Q7Z412 (PEX26_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Peroxisome assembly protein 26

Alternative name(s):
Peroxin-26

Gene names

Name:

PEX26

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	305 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Membrane Peroxisome
Coding sequence diversity	Polymorphism
Disease	Disease mutation Peroxisome biogenesis disorder Zellweger syndrome
Domain	Signal-anchor Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein import into peroxisome matrix Inferred from direct assay PubMed 16257970. Source: UniProtKB protein import into peroxisome membrane Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to peroxisomal membrane Inferred from electronic annotation. Source: InterPro peroxisome Inferred from direct assay PubMed 15858711PubMed 16257970PubMed 16763195. Source: UniProtKB
Molecular_function	protein complex binding Inferred from direct assay PubMed 16854980. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
SUFU	Q9UMX1	2	EBI-752057,EBI-740595

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 305	305	Peroxisome assembly protein 26		PRO_0000058340
Regions
	Topological domain	1 – 246	246	Cytoplasmic Potential
	Transmembrane	247 – 267	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	268 – 305	38	Peroxisomal matrix Potential
Natural variations
	Natural variant	45	1	L → P in PBD7B; infantile Refsum disease. Ref.2		VAR_018647
	Natural variant	89	1	G → R in PBD7A. Ref.2		VAR_018648
	Natural variant	98	1	R → W in PBD7B; neonatal adrenoleukodystrophy; affects the interaction with PEX6. Ref.1 Ref.2		VAR_018649
	Natural variant	153	1	L → V. Ref.7 Corresponds to variant rs12484657 [ dbSNP | Ensembl ].		VAR_034146
Experimental info
	Sequence conflict	304	1	R → H in AAH16280. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Q7Z412 [UniParc]. Last modified May 24, 2004. Version 2. Checksum: 0B9FCF8E2B3178E1	FASTA	305	33,898
	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

References

	« Hide 'large scale' referencesShow '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], 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], 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. , 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]. 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].
[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. , 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]. Tissue: Brain and Uterus.
[7]	"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.

Web resources

GeneReviews

dbPEX, PEX Gene Database

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. AC016027 Genomic DNA. No translation available. BC016280 mRNA. Translation: AAH16280.1. BC047320 mRNA. Translation: AAH47320.1.
IPI	IPI00743964.
RefSeq	NP_001121121.1. NM_001127649.2. NP_001186248.1. NM_001199319.1. NP_060399.1. NM_017929.5.
UniGene	Hs.517400. Hs.736828.
3D structure databases
ProteinModelPortal	Q7Z412.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z412. 5 interactions.
STRING	9606.ENSP00000331106.
Protein family/group databases
TCDB	3.A.20.1.1. peroxisomal protein importer (PPI) family.
PTM databases
PhosphoSite	Q7Z412.
Polymorphism databases
DMDM	47606028.
Proteomic databases
PaxDb	Q7Z412.
PRIDE	Q7Z412.
Protocols and materials databases
DNASU	55670.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000329627; ENSP00000331106; ENSG00000215193. ENST00000399744; ENSP00000382648; ENSG00000215193.
GeneID	55670.
KEGG	hsa:55670.
UCSC	uc002znp.4. human.
Organism-specific databases
CTD	55670.
GeneCards	GC22P018560.
H-InvDB	HIX0016222.
HGNC	HGNC:22965. PEX26.
MIM	608666. gene. 614872. phenotype. 614873. phenotype.
neXtProt	NX_Q7Z412.
Orphanet	772. Infantile Refsum disease. 44. Neonatal adrenoleukodystrophy. 912. Zellweger syndrome.
PharmGKB	PA134983458.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG44501.
HOVERGEN	HBG053574.
KO	K13340.
OrthoDB	EOG4P8FK7.
PhylomeDB	Q7Z412.
Gene expression databases
ArrayExpress	Q7Z412.
Bgee	Q7Z412.
CleanEx	HS_PEX26.
Genevestigator	Q7Z412.
GermOnline	ENSG00000183785. Homo sapiens.
Family and domain databases
InterPro	IPR010797. Pex26. [Graphical view]
Pfam	PF07163. Pex26. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	55670.
NextBio	60440.
SOURCE	Search...

Entry information

Entry name

PEX26_HUMAN

Accession

Primary (citable) accession number: Q7Z412
Secondary accession number(s): 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:	May 1, 2013
This is version 93 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.