Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q92968

- PEX13_HUMAN

UniProt

Q92968 - PEX13_HUMAN

Protein

Peroxisomal membrane protein PEX13

Gene

PEX13

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 2 (15 Dec 1998)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 - Molecular functioni

    1. protein binding Source: UniProtKB

    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

    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

    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

    ArrayExpressiQ92968.
    BgeeiQ92968.
    CleanExiHS_PEX13.
    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. 7 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.
    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

    MASQPPPPPK PWETRRIPGA GPGPGPGPTF QSADLGPTLM TRPGQPALTR    50
    VPPPILPRPS QQTGSSSVNT FRPAYSSFSS GYGAYGNSFY GGYSPYSYGY 100
    NGLGYNRLRV DDLPPSRFVQ QAEESSRGAF QSIESIVHAF ASVSMMMDAT 150
    FSAVYNSFRA VLDVANHFSR LKIHFTKVFS AFALVRTIRY LYRRLQRMLG 200
    LRRGSENEDL WAESEGTVAC LGAEDRAATS AKSWPIFLFF AVILGGPYLI 250
    WKLLSTHSDE VTDSINWASG EDDHVVARAE YDFAAVSEEE ISFRAGDMLN 300
    LALKEQQPKV RGWLLASLDG QTTGLIPANY VKILGKRKGR KTVESSKVSK 350
    QQQSFTNPTL TKGATVADSL DEQEAAFESV FVETNKVPVA PDSIGKDGEK 400
    QDL 403
    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. 7 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.
    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

    ArrayExpressi Q92968.
    Bgeei Q92968.
    CleanExi HS_PEX13.
    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

    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 1, 2014
    This is version 139 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