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Q92968

- PEX13_HUMAN

UniProt

Q92968 - PEX13_HUMAN

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Protein

Peroxisomal membrane protein PEX13

Gene

PEX13

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

GO - Biological processi

  1. cerebral cortex cell migration Source: UniProtKB
  2. fatty acid alpha-oxidation Source: UniProtKB
  3. locomotory behavior Source: UniProtKB
  4. microtubule-based peroxisome localization Source: UniProtKB
  5. neuron migration Source: UniProtKB
  6. protein import into peroxisome matrix, docking Source: UniProtKB
  7. suckling behavior Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Protein family/group databases

TCDBi3.A.20.1.1. the peroxisomal protein importer (ppi) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisomal membrane protein PEX13
Alternative name(s):
Peroxin-13
Gene namesi
Name:PEX13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:8855. PEX13.

Subcellular locationi

Peroxisome membrane 1 Publication; Single-pass membrane protein 1 Publication

GO - Cellular componenti

  1. integral component of peroxisomal membrane Source: UniProtKB
  2. membrane Source: UniProtKB
  3. peroxisomal membrane Source: UniProtKB
  4. peroxisome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti326 – 3261I → T in PBD11B; neonatal adrenoleukodystrophy. 2 Publications
VAR_009306

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

MIMi614883. phenotype.
614885. phenotype.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33197.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 403403Peroxisomal membrane protein PEX13PRO_0000058323Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei354 – 3541PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ92968.
PaxDbiQ92968.
PRIDEiQ92968.

PTM databases

PhosphoSiteiQ92968.

Expressioni

Gene expression databases

BgeeiQ92968.
CleanExiHS_PEX13.
ExpressionAtlasiQ92968. baseline and differential.
GenevestigatoriQ92968.

Organism-specific databases

HPAiHPA032142.

Interactioni

Subunit structurei

Interacts with PEX19.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PEX19P4085512EBI-594849,EBI-594747

Protein-protein interaction databases

BioGridi111217. 8 interactions.
IntActiQ92968. 5 interactions.
MINTiMINT-241563.
STRINGi9606.ENSP00000295030.

Structurei

3D structure databases

ProteinModelPortaliQ92968.
SMRiQ92968. Positions 262-349.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 226226LumenalSequence AnalysisAdd
BLAST
Topological domaini252 – 403152CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei227 – 25125HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini276 – 33459SH3PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni145 – 23389Targeting to peroxisomesAdd
BLAST
Regioni175 – 19622Interaction with PEX19Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi5 – 117Poly-Pro

Sequence similaritiesi

Belongs to the peroxin-13 family.Curated
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH3 domain, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG281515.
GeneTreeiENSGT00390000016883.
HOGENOMiHOG000231374.
HOVERGENiHBG053570.
InParanoidiQ92968.
KOiK13344.
OMAiYRRLQWM.
PhylomeDBiQ92968.
TreeFamiTF327117.

Family and domain databases

InterProiIPR007223. Peroxin-13_N.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF04088. Peroxin-13_N. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q92968-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MASQPPPPPK PWETRRIPGA GPGPGPGPTF QSADLGPTLM TRPGQPALTR
60 70 80 90 100
VPPPILPRPS QQTGSSSVNT FRPAYSSFSS GYGAYGNSFY GGYSPYSYGY
110 120 130 140 150
NGLGYNRLRV DDLPPSRFVQ QAEESSRGAF QSIESIVHAF ASVSMMMDAT
160 170 180 190 200
FSAVYNSFRA VLDVANHFSR LKIHFTKVFS AFALVRTIRY LYRRLQRMLG
210 220 230 240 250
LRRGSENEDL WAESEGTVAC LGAEDRAATS AKSWPIFLFF AVILGGPYLI
260 270 280 290 300
WKLLSTHSDE VTDSINWASG EDDHVVARAE YDFAAVSEEE ISFRAGDMLN
310 320 330 340 350
LALKEQQPKV RGWLLASLDG QTTGLIPANY VKILGKRKGR KTVESSKVSK
360 370 380 390 400
QQQSFTNPTL TKGATVADSL DEQEAAFESV FVETNKVPVA PDSIGKDGEK

QDL
Length:403
Mass (Da):44,130
Last modified:December 15, 1998 - v2
Checksum:i1E85BEE04366C01C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti326 – 3261I → T in PBD11B; neonatal adrenoleukodystrophy. 2 Publications
VAR_009306

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS1866.1.
RefSeqiNP_002609.1. NM_002618.3.
UniGeneiHs.161377.

Genome annotation databases

EnsembliENST00000295030; ENSP00000295030; ENSG00000162928.
GeneIDi5194.
KEGGihsa:5194.
UCSCiuc002sau.4. human.

Polymorphism databases

DMDMi3914319.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS1866.1.
RefSeqi NP_002609.1. NM_002618.3.
UniGenei Hs.161377.

3D structure databases

ProteinModelPortali Q92968.
SMRi Q92968. Positions 262-349.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111217. 8 interactions.
IntActi Q92968. 5 interactions.
MINTi MINT-241563.
STRINGi 9606.ENSP00000295030.

Protein family/group databases

TCDBi 3.A.20.1.1. the peroxisomal protein importer (ppi) family.

PTM databases

PhosphoSitei Q92968.

Polymorphism databases

DMDMi 3914319.

Proteomic databases

MaxQBi Q92968.
PaxDbi Q92968.
PRIDEi Q92968.

Protocols and materials databases

DNASUi 5194.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295030 ; ENSP00000295030 ; ENSG00000162928 .
GeneIDi 5194.
KEGGi hsa:5194.
UCSCi uc002sau.4. human.

Organism-specific databases

CTDi 5194.
GeneCardsi GC02P061244.
GeneReviewsi PEX13.
HGNCi HGNC:8855. PEX13.
HPAi HPA032142.
MIMi 601789. gene.
614883. phenotype.
614885. phenotype.
neXtProti NX_Q92968.
Orphaneti 772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBi PA33197.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG281515.
GeneTreei ENSGT00390000016883.
HOGENOMi HOG000231374.
HOVERGENi HBG053570.
InParanoidi Q92968.
KOi K13344.
OMAi YRRLQWM.
PhylomeDBi Q92968.
TreeFami TF327117.

Miscellaneous databases

GeneWikii PEX13.
GenomeRNAii 5194.
NextBioi 20090.
PROi Q92968.
SOURCEi Search...

Gene expression databases

Bgeei Q92968.
CleanExi HS_PEX13.
ExpressionAtlasi Q92968. baseline and differential.
Genevestigatori Q92968.

Family and domain databases

InterProi IPR007223. Peroxin-13_N.
IPR001452. SH3_domain.
[Graphical view ]
Pfami PF04088. Peroxin-13_N. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view ]
PRINTSi PR00452. SH3DOMAIN.
SMARTi SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
PROSITEi PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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.

Entry informationi

Entry nameiPEX13_HUMAN
AccessioniPrimary (citable) accession number: Q92968
Secondary accession number(s): B2RCS1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: December 15, 1998
Last modified: October 29, 2014
This is version 140 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-40 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3