Q92968 (PEX13_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Peroxisomal membrane protein PEX13

Alternative name(s):
Peroxin-13

Gene names

Name:

PEX13

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	403 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins.
Subunit structure	Interacts with PEX19. Ref.7 Ref.8
Subcellular location	Peroxisome membrane; Single-pass membrane protein Ref.8.
Involvement in disease	Peroxisome biogenesis disorder complementation group 13 (PBD-CG13) [MIM:614883]: 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. Peroxisome biogenesis disorder 11A (PBD11A) [MIM:614883]: 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.9 Ref.11 Peroxisome biogenesis disorder 11B (PBD11B) [MIM:614885]: 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.10 Ref.11
Sequence similarities	Belongs to the peroxin-13 family. Contains 1 SH3 domain.
Caution	It is uncertain whether Met-1 or Met-40 is the initiator.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Membrane Peroxisome
Disease	Disease mutation Peroxisome biogenesis disorder Zellweger syndrome
Domain	SH3 domain Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cerebral cortex cell migration Inferred from sequence or structural similarity. Source: UniProtKB fatty acid alpha-oxidation Inferred from sequence or structural similarity. Source: UniProtKB locomotory behavior Inferred from sequence or structural similarity. Source: UniProtKB microtubule-based peroxisome localization Inferred from sequence or structural similarity. Source: UniProtKB neuron migration Inferred from sequence or structural similarity. Source: UniProtKB protein import into peroxisome matrix, docking Inferred from mutant phenotype Ref.6. Source: UniProtKB suckling behavior Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	integral to peroxisomal membrane Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PEX19	P40855	2	EBI-594849,EBI-594747

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 403	403	Peroxisomal membrane protein PEX13		PRO_0000058323
Regions
	Topological domain	1 – 226	226	Lumenal Potential
	Transmembrane	227 – 251	25	Helical; Potential
	Topological domain	252 – 403	152	Cytoplasmic Potential
	Domain	276 – 334	59	SH3
	Region	145 – 233	89	Targeting to peroxisomes
	Region	175 – 196	22	Interaction with PEX19
	Compositional bias	5 – 11	7	Poly-Pro
Natural variations
	Natural variant	326	1	I → T in PBD11B; neonatal adrenoleukodystrophy. Ref.10 Ref.11		VAR_009306

Sequences

	Sequence		Length	Mass (Da)
	Q92968 [UniParc]. Last modified December 15, 1998. Version 2. Checksum: 1E85BEE04366C01C	FASTA	403	44,130
	10 20 30 40 50 60 MASQPPPPPK PWETRRIPGA GPGPGPGPTF QSADLGPTLM TRPGQPALTR VPPPILPRPS 70 80 90 100 110 120 QQTGSSSVNT FRPAYSSFSS GYGAYGNSFY GGYSPYSYGY NGLGYNRLRV DDLPPSRFVQ 130 140 150 160 170 180 QAEESSRGAF QSIESIVHAF ASVSMMMDAT FSAVYNSFRA VLDVANHFSR LKIHFTKVFS 190 200 210 220 230 240 AFALVRTIRY LYRRLQRMLG LRRGSENEDL WAESEGTVAC LGAEDRAATS AKSWPIFLFF 250 260 270 280 290 300 AVILGGPYLI WKLLSTHSDE VTDSINWASG EDDHVVARAE YDFAAVSEEE ISFRAGDMLN 310 320 330 340 350 360 LALKEQQPKV RGWLLASLDG QTTGLIPANY VKILGKRKGR KTVESSKVSK QQQSFTNPTL 370 380 390 400 TKGATVADSL DEQEAAFESV FVETNKVPVA PDSIGKDGEK QDL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import." Fransen M., Terlecky S.R., Subramani S. Proc. Natl. Acad. Sci. U.S.A. 95:8087-8092(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants." Toyama R., Mukai S., Itagaki A., Tamura S., Shimozawa N., Suzuki Y., Kondo N., Wanders R.J., Fujiki Y. Hum. Mol. Genet. 8:1673-1681(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[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: Trachea.
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: Liver.
[6]	"Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTs1 receptor." Gould S.J., Kalish J.E., Morrell J.C., Bjoerkman J., Urquhart A.J., Crane D.I. J. Cell Biol. 135:85-95(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 40-403.
[7]	"PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis." Sacksteder K.A., Jones J.M., South S.T., Li X., Liu Y., Gould S.J. J. Cell Biol. 148:931-944(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PEX19.
[8]	"Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences." Fransen M., Wylin T., Brees C., Mannaerts G.P., Van Veldhoven P.P. Mol. Cell. Biol. 21:4413-4424(2001) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PEX19, SUBCELLULAR LOCATION.
[9]	"Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations." Al-Dirbashi O.Y., Shaheen R., Al-Sayed M., Al-Dosari M., Makhseed N., Abu Safieh L., Santa T., Meyer B.F., Shimozawa N., Alkuraya F.S. Am. J. Med. Genet. A 149:1219-1223(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN PBD11A.
[10]	"PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders." Liu Y., Bjoerkman J., Urquhart A., Wanders R.J.A., Crane D.I., Gould S.J. Am. J. Hum. Genet. 65:621-634(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PBD11B THR-326.
[11]	"Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders." Shimozawa N., Suzuki Y., Zhang Z., Imamura A., Toyama R., Mukai S., Fujiki Y., Tsukamoto T., Osumi T., Orii T., Wanders R.J.A., Kondo N. Hum. Mol. Genet. 8:1077-1083(1999) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN PBD11A, VARIANT PBD11B THR-326.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF048755 mRNA. Translation: AAC39844.1. AB022192 mRNA. Translation: BAA88907.1. AK315244 mRNA. Translation: BAG37668.1. CH471053 Genomic DNA. Translation: EAX00018.1. BC067090 mRNA. Translation: AAH67090.1. U71374 mRNA. Translation: AAD05572.1.
IPI	IPI00024348.
RefSeq	NP_002609.1. NM_002618.3.
UniGene	Hs.161377.
3D structure databases
ProteinModelPortal	Q92968.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92968. 4 interactions.
MINT	MINT-241563.
STRING	9606.ENSP00000295030.
Protein family/group databases
TCDB	3.A.20.1.1. peroxisomal protein importer (PPI) family.
PTM databases
PhosphoSite	Q92968.
Polymorphism databases
DMDM	3914319.
Proteomic databases
PaxDb	Q92968.
PRIDE	Q92968.
Protocols and materials databases
DNASU	5194.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295030; ENSP00000295030; ENSG00000162928.
GeneID	5194.
KEGG	hsa:5194.
UCSC	uc002sau.4. human.
Organism-specific databases
CTD	5194.
GeneCards	GC02P061244.
HGNC	HGNC:8855. PEX13.
HPA	HPA032142.
MIM	601789. gene. 614883. phenotype. 614885. phenotype.
neXtProt	NX_Q92968.
Orphanet	772. Infantile Refsum disease. 44. Neonatal adrenoleukodystrophy. 912. Zellweger syndrome.
PharmGKB	PA33197.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG281515.
HOGENOM	HOG000231374.
HOVERGEN	HBG053570.
InParanoid	Q92968.
KO	K13344.
OMA	YRRLQWM.
OrthoDB	EOG4VMFG3.
PhylomeDB	Q92968.
Gene expression databases
ArrayExpress	Q92968.
Bgee	Q92968.
CleanEx	HS_PEX13.
Genevestigator	Q92968.
GermOnline	ENSG00000162928. Homo sapiens.
Family and domain databases
InterPro	IPR007223. Peroxin-13_N. IPR001452. SH3_domain. [Graphical view]
Pfam	PF04088. Peroxin-13_N. 1 hit. PF00018. SH3_1. 1 hit. [Graphical view]
PRINTS	PR00452. SH3DOMAIN.
SMART	SM00326. SH3. 1 hit. [Graphical view]
SUPFAM	SSF50044. SH3. 1 hit.
PROSITE	PS50002. SH3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	5194.
NextBio	20090.
SOURCE	Search...

Entry information

Entry name

PEX13_HUMAN

Accession

Primary (citable) accession number: Q92968
Secondary accession number(s): B2RCS1

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	December 15, 1998
Last modified:	May 1, 2013
This is version 126 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.