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Q92968 (PEX13_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 138. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peroxisomal membrane protein PEX13
Alternative name(s):
Peroxin-13
Gene names
Name:PEX13
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length403 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PEX19P4085512EBI-594849,EBI-594747

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 403403Peroxisomal membrane protein PEX13
PRO_0000058323

Regions

Topological domain1 – 226226Lumenal Potential
Transmembrane227 – 25125Helical; Potential
Topological domain252 – 403152Cytoplasmic Potential
Domain276 – 33459SH3
Region145 – 23389Targeting to peroxisomes
Region175 – 19622Interaction with PEX19
Compositional bias5 – 117Poly-Pro

Amino acid modifications

Modified residue3541Phosphoserine By similarity

Natural variations

Natural variant3261I → T in PBD11B; neonatal adrenoleukodystrophy. Ref.10 Ref.11
VAR_009306

Sequences

Sequence LengthMass (Da)Tools
Q92968 [UniParc].

Last modified December 15, 1998. Version 2.
Checksum: 1E85BEE04366C01C

FASTA40344,130
        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 

« Hide

References

« Hide '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. 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].
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. expand/collapse author list , 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.

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.
CCDSCCDS1866.1.
RefSeqNP_002609.1. NM_002618.3.
UniGeneHs.161377.

3D structure databases

ProteinModelPortalQ92968.
SMRQ92968. Positions 262-349.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111217. 7 interactions.
IntActQ92968. 5 interactions.
MINTMINT-241563.
STRING9606.ENSP00000295030.

Protein family/group databases

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

PTM databases

PhosphoSiteQ92968.

Polymorphism databases

DMDM3914319.

Proteomic databases

MaxQBQ92968.
PaxDbQ92968.
PRIDEQ92968.

Protocols and materials databases

DNASU5194.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295030; ENSP00000295030; ENSG00000162928.
GeneID5194.
KEGGhsa:5194.
UCSCuc002sau.4. human.

Organism-specific databases

CTD5194.
GeneCardsGC02P061244.
GeneReviewsPEX13.
HGNCHGNC:8855. PEX13.
HPAHPA032142.
MIM601789. gene.
614883. phenotype.
614885. phenotype.
neXtProtNX_Q92968.
Orphanet772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBPA33197.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG281515.
HOGENOMHOG000231374.
HOVERGENHBG053570.
InParanoidQ92968.
KOK13344.
OMAYRRLQWM.
PhylomeDBQ92968.
TreeFamTF327117.

Gene expression databases

ArrayExpressQ92968.
BgeeQ92968.
CleanExHS_PEX13.
GenevestigatorQ92968.

Family and domain databases

InterProIPR007223. Peroxin-13_N.
IPR001452. SH3_domain.
[Graphical view]
PfamPF04088. Peroxin-13_N. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSPR00452. SH3DOMAIN.
SMARTSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
PROSITEPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPEX13.
GenomeRNAi5194.
NextBio20090.
PROQ92968.
SOURCESearch...

Entry information

Entry namePEX13_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 138 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 2

Human chromosome 2: entries, gene names and cross-references to MIM