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)

Q9Y5Y5

- PEX16_HUMAN

UniProt

Q9Y5Y5 - PEX16_HUMAN

Protein

Peroxisomal membrane protein PEX16

Gene

PEX16

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 123 (01 Oct 2014)
      Sequence version 2 (03 May 2011)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3.3 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. protein C-terminus binding Source: UniProtKB

    GO - Biological processi

    1. ER-dependent peroxisome organization Source: UniProtKB
    2. peroxisome membrane biogenesis Source: UniProtKB
    3. peroxisome organization Source: UniProtKB
    4. protein import into peroxisome matrix Source: MGI
    5. protein import into peroxisome membrane Source: UniProtKB
    6. protein localization to endoplasmic reticulum Source: UniProtKB
    7. protein targeting to peroxisome Source: UniProtKB
    8. protein to membrane docking Source: UniProtKB

    Keywords - Biological processi

    Peroxisome biogenesis

    Protein family/group databases

    TCDBi9.A.17.1.2. the integral membrane peroxisomal protein importer-2 (ppi2) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Peroxisomal membrane protein PEX16
    Alternative name(s):
    Peroxin-16
    Peroxisomal biogenesis factor 16
    Gene namesi
    Name:PEX16
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:8857. PEX16.

    Subcellular locationi

    Peroxisome membrane 1 Publication; Multi-pass membrane protein 1 Publication. Endoplasmic reticulum membrane 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. endoplasmic reticulum membrane Source: UniProtKB
    3. integral component of peroxisomal membrane Source: UniProtKB
    4. membrane Source: UniProtKB
    5. peroxisomal membrane Source: UniProtKB
    6. peroxisome Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Peroxisome

    Pathology & Biotechi

    Involvement in diseasei

    Peroxisome biogenesis disorder complementation group 9 (PBD-CG9) [MIM:614876]: 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 8A (PBD8A) [MIM:614876]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]: A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti252 – 2521Missing in PBD8B. 1 Publication
    VAR_069208
    Natural varianti289 – 2891P → T in PBD8B. 1 Publication
    VAR_069209
    Natural varianti331 – 3311Y → C in PBD8B. 1 Publication
    VAR_069210

    Keywords - Diseasei

    Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

    Organism-specific databases

    MIMi614876. phenotype.
    614877. phenotype.
    Orphaneti772. Infantile Refsum disease.
    44. Neonatal adrenoleukodystrophy.
    912. Zellweger syndrome.
    PharmGKBiPA33199.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 336336Peroxisomal membrane protein PEX16PRO_0000058330Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y5Y5.
    PaxDbiQ9Y5Y5.
    PRIDEiQ9Y5Y5.

    PTM databases

    PhosphoSiteiQ9Y5Y5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y5Y5.
    BgeeiQ9Y5Y5.
    CleanExiHS_PEX16.
    GenevestigatoriQ9Y5Y5.

    Organism-specific databases

    HPAiHPA043286.

    Interactioni

    Subunit structurei

    Interacts with PEX19.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PEX19P408556EBI-981985,EBI-594747

    Protein-protein interaction databases

    BioGridi114804. 3 interactions.
    IntActiQ9Y5Y5. 3 interactions.
    MINTiMINT-241739.
    STRINGi9606.ENSP00000241041.

    Structurei

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8484CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini106 – 1105PeroxisomalSequence Analysis
    Topological domaini132 – 336205CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei85 – 10521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei111 – 13121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni66 – 8116Required for peroxisomal locationAdd
    BLAST
    Regioni221 – 336116Interaction with PEX19Add
    BLAST

    Sequence similaritiesi

    Belongs to the peroxin-16 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG289038.
    HOGENOMiHOG000008062.
    HOVERGENiHBG053572.
    KOiK13335.
    OMAiPLNREQQ.
    OrthoDBiEOG7XWPNZ.
    TreeFamiTF324139.

    Family and domain databases

    InterProiIPR013919. Pex16.
    [Graphical view]
    PfamiPF08610. Pex16. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y5Y5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEKLRLLGLR YQEYVTRHPA ATAQLETAVR GFSYLLAGRF ADSHELSELV    50
    YSASNLLVLL NDGILRKELR KKLPVSLSQQ KLLTWLSVLE CVEVFMEMGA 100
    AKVWGEVGRW LVIALVQLAK AVLRMLLLLW FKAGLQTSPP IVPLDRETQA 150
    QPPDGDHSPG NHEQSYVGKR SNRVVRTLQN TPSLHSRHWG APQQREGRQQ 200
    QHHEELSATP TPLGLQETIA EFLYIARPLL HLLSLGLWGQ RSWKPWLLAG 250
    VVDVTSLSLL SDRKGLTRRE RRELRRRTIL LLYYLLRSPF YDRFSEARIL 300
    FLLQLLADHV PGVGLVTRPL MDYLPTWQKI YFYSWG 336
    Length:336
    Mass (Da):38,629
    Last modified:May 3, 2011 - v2
    Checksum:i57243AEE0B165C59
    GO
    Isoform 2 (identifier: Q9Y5Y5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         318-336: RPLMDYLPTWQKIYFYSWG → TSQRAASPCLPARPHTQPWSPPAFLPGHP

    Show »
    Length:346
    Mass (Da):39,270
    Checksum:i2C7FE986CF33B64B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti107 – 1071V → L in AAH00467. (PubMed:15489334)Curated
    Sequence conflicti125 – 1251M → I in AAH00467. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti103 – 1031V → M.
    Corresponds to variant rs11553094 [ dbSNP | Ensembl ].
    VAR_051272
    Natural varianti116 – 1161V → I.3 Publications
    Corresponds to variant rs10742772 [ dbSNP | Ensembl ].
    VAR_061841
    Natural varianti252 – 2521Missing in PBD8B. 1 Publication
    VAR_069208
    Natural varianti254 – 2541V → L.
    Corresponds to variant rs35214605 [ dbSNP | Ensembl ].
    VAR_034145
    Natural varianti289 – 2891P → T in PBD8B. 1 Publication
    VAR_069209
    Natural varianti331 – 3311Y → C in PBD8B. 1 Publication
    VAR_069210

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei318 – 33619RPLMD…FYSWG → TSQRAASPCLPARPHTQPWS PPAFLPGHP in isoform 2. 1 PublicationVSP_036593Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB016531 mRNA. Translation: BAA88826.1.
    AF118240 mRNA. Translation: AAD22466.1.
    AC068385 Genomic DNA. No translation available.
    BC004356 mRNA. Translation: AAH04356.1.
    BC000467 mRNA. Translation: AAH00467.1.
    CCDSiCCDS31472.1. [Q9Y5Y5-1]
    CCDS7917.1. [Q9Y5Y5-2]
    RefSeqiNP_004804.1. NM_004813.2.
    NP_476515.1. NM_057174.2.
    UniGeneiHs.100915.

    Genome annotation databases

    EnsembliENST00000241041; ENSP00000241041; ENSG00000121680. [Q9Y5Y5-2]
    ENST00000378750; ENSP00000368024; ENSG00000121680. [Q9Y5Y5-1]
    GeneIDi9409.
    KEGGihsa:9409.
    UCSCiuc001nbt.3. human. [Q9Y5Y5-2]
    uc001nbu.3. human. [Q9Y5Y5-1]

    Polymorphism databases

    DMDMi332278135.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB016531 mRNA. Translation: BAA88826.1 .
    AF118240 mRNA. Translation: AAD22466.1 .
    AC068385 Genomic DNA. No translation available.
    BC004356 mRNA. Translation: AAH04356.1 .
    BC000467 mRNA. Translation: AAH00467.1 .
    CCDSi CCDS31472.1. [Q9Y5Y5-1 ]
    CCDS7917.1. [Q9Y5Y5-2 ]
    RefSeqi NP_004804.1. NM_004813.2.
    NP_476515.1. NM_057174.2.
    UniGenei Hs.100915.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114804. 3 interactions.
    IntActi Q9Y5Y5. 3 interactions.
    MINTi MINT-241739.
    STRINGi 9606.ENSP00000241041.

    Protein family/group databases

    TCDBi 9.A.17.1.2. the integral membrane peroxisomal protein importer-2 (ppi2) family.

    PTM databases

    PhosphoSitei Q9Y5Y5.

    Polymorphism databases

    DMDMi 332278135.

    Proteomic databases

    MaxQBi Q9Y5Y5.
    PaxDbi Q9Y5Y5.
    PRIDEi Q9Y5Y5.

    Protocols and materials databases

    DNASUi 9409.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000241041 ; ENSP00000241041 ; ENSG00000121680 . [Q9Y5Y5-2 ]
    ENST00000378750 ; ENSP00000368024 ; ENSG00000121680 . [Q9Y5Y5-1 ]
    GeneIDi 9409.
    KEGGi hsa:9409.
    UCSCi uc001nbt.3. human. [Q9Y5Y5-2 ]
    uc001nbu.3. human. [Q9Y5Y5-1 ]

    Organism-specific databases

    CTDi 9409.
    GeneCardsi GC11M045931.
    GeneReviewsi PEX16.
    HGNCi HGNC:8857. PEX16.
    HPAi HPA043286.
    MIMi 603360. gene.
    614876. phenotype.
    614877. phenotype.
    neXtProti NX_Q9Y5Y5.
    Orphaneti 772. Infantile Refsum disease.
    44. Neonatal adrenoleukodystrophy.
    912. Zellweger syndrome.
    PharmGKBi PA33199.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG289038.
    HOGENOMi HOG000008062.
    HOVERGENi HBG053572.
    KOi K13335.
    OMAi PLNREQQ.
    OrthoDBi EOG7XWPNZ.
    TreeFami TF324139.

    Miscellaneous databases

    GeneWikii PEX16.
    GenomeRNAii 9409.
    NextBioi 35246.
    PROi Q9Y5Y5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y5Y5.
    Bgeei Q9Y5Y5.
    CleanExi HS_PEX16.
    Genevestigatori Q9Y5Y5.

    Family and domain databases

    InterProi IPR013919. Pex16.
    [Graphical view ]
    Pfami PF08610. Pex16. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D."
      Honsho M., Tamura S., Shimozawa N., Suzuki Y., Kondo N., Fujiki Y.
      Am. J. Hum. Genet. 63:1622-1630(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN PBD-CG9 AND PBD8A, VARIANT ILE-116.
    2. "Peroxisome synthesis in the absence of preexisting peroxisomes."
      South S.T., Gould S.J.
      J. Cell Biol. 144:255-266(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-116.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORMS 1 AND 2), VARIANT ILE-116.
      Tissue: Lung.
    5. "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: FUNCTION, INTERACTION WITH PEX19.
    6. "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.
    7. "The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly."
      Honsho M., Hiroshige T., Fujiki Y.
      J. Biol. Chem. 277:44513-44524(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TOPOLOGY.
    8. "PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins."
      Jones J.M., Morrell J.C., Gould S.J.
      J. Cell Biol. 164:57-67(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PEX19.
    9. "The origin and maintenance of mammalian peroxisomes involves a de novo PEX16-dependent pathway from the ER."
      Kim P.K., Mullen R.T., Schumann U., Lippincott-Schwartz J.
      J. Cell Biol. 173:521-532(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    10. Cited for: VARIANTS PBD8B VAL-252 DEL; THR-289 AND CYS-331.

    Entry informationi

    Entry nameiPEX16_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y5Y5
    Secondary accession number(s): Q9BWB9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 16, 2002
    Last sequence update: May 3, 2011
    Last modified: October 1, 2014
    This is version 123 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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