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O00628

- PEX7_HUMAN

UniProt

O00628 - PEX7_HUMAN

Protein

Peroxisomal targeting signal 2 receptor

Gene

PEX7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 Jul 1997)
      Previous versions | rss
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    Functioni

    Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.

    GO - Molecular functioni

    1. enzyme binding Source: UniProtKB
    2. peroxisome matrix targeting signal-2 binding Source: UniProtKB
    3. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. endochondral ossification Source: Ensembl
    2. ether lipid biosynthetic process Source: UniProtKB
    3. fatty acid beta-oxidation Source: Ensembl
    4. neuron migration Source: Ensembl
    5. peroxisome organization Source: UniProtKB
    6. protein import into peroxisome matrix Source: UniProtKB

    Keywords - Biological processi

    Protein transport, Transport

    Enzyme and pathway databases

    SignaLinkiO00628.

    Protein family/group databases

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Peroxisomal targeting signal 2 receptor
    Short name:
    PTS2 receptor
    Alternative name(s):
    Peroxin-7
    Gene namesi
    Name:PEX7
    Synonyms:PTS2R
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:8860. PEX7.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: UniProtKB
    2. peroxisomal matrix Source: UniProtKB
    3. peroxisome Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Peroxisome

    Pathology & Biotechi

    Involvement in diseasei

    Peroxisome biogenesis disorder complementation group 11 (PBD-CG11) [MIM:614879]: 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.
    Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100]: A peroxisome biogenesis disorder. It is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti217 – 2171G → R in RCDP1; unknown pathological significance. 1 Publication
    VAR_007725
    Natural varianti218 – 2181A → V in RCDP1. 1 Publication
    VAR_007726
    Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879]: A peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141T → P in PBD9B. 1 Publication
    VAR_016810

    Keywords - Diseasei

    Cataract, Deafness, Disease mutation, Ichthyosis, Peroxisome biogenesis disorder, Retinitis pigmentosa, Rhizomelic chondrodysplasia punctata

    Organism-specific databases

    MIMi215100. phenotype.
    614879. phenotype.
    Orphaneti773. Refsum disease.
    309789. Rhizomelic chondrodysplasia punctata type 1.
    PharmGKBiPA33202.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 323323Peroxisomal targeting signal 2 receptorPRO_0000051116Add
    BLAST

    Proteomic databases

    MaxQBiO00628.
    PRIDEiO00628.

    PTM databases

    PhosphoSiteiO00628.

    Expressioni

    Tissue specificityi

    Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.

    Gene expression databases

    ArrayExpressiO00628.
    BgeeiO00628.
    CleanExiHS_PEX7.
    GenevestigatoriO00628.

    Organism-specific databases

    HPAiHPA049202.

    Interactioni

    Subunit structurei

    Interacts with PEX5.

    Protein-protein interaction databases

    BioGridi111214. 9 interactions.
    IntActiO00628. 4 interactions.
    MINTiMINT-2997901.
    STRINGi9606.ENSP00000315680.

    Structurei

    3D structure databases

    ProteinModelPortaliO00628.
    SMRiO00628. Positions 11-315.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati65 – 9632WD 1Add
    BLAST
    Repeati109 – 14133WD 2Add
    BLAST
    Repeati153 – 18432WD 3Add
    BLAST
    Repeati196 – 22732WD 4Add
    BLAST
    Repeati240 – 27132WD 5Add
    BLAST
    Repeati284 – 31532WD 6Add
    BLAST

    Sequence similaritiesi

    Belongs to the WD repeat peroxin-7 family.Curated
    Contains 6 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOGENOMiHOG000204332.
    HOVERGENiHBG003354.
    InParanoidiO00628.
    KOiK13341.
    OMAiCVYQALF.
    PhylomeDBiO00628.
    TreeFamiTF323220.

    Family and domain databases

    Gene3Di2.130.10.10. 1 hit.
    InterProiIPR020472. G-protein_beta_WD-40_rep.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF00400. WD40. 6 hits.
    [Graphical view]
    PRINTSiPR00320. GPROTEINBRPT.
    SMARTiSM00320. WD40. 6 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 1 hit.
    PROSITEiPS00678. WD_REPEATS_1. 3 hits.
    PS50082. WD_REPEATS_2. 4 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O00628-1) [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

    MSAVCGGAAR MLRTPGRHGY AAEFSPYLPG RLACATAQHY GIAGCGTLLI    50
    LDPDEAGLRL FRSFDWNDGL FDVTWSENNE HVLITCSGDG SLQLWDTAKA 100
    AGPLQVYKEH AQEVYSVDWS QTRGEQLVVS GSWDQTVKLW DPTVGKSLCT 150
    FRGHESIIYS TIWSPHIPGC FASASGDQTL RIWDVKAAGV RIVIPAHQAE 200
    ILSCDWCKYN ENLLVTGAVD CSLRGWDLRN VRQPVFELLG HTYAIRRVKF 250
    SPFHASVLAS CSYDFTVRFW NFSKPDSLLE TVEHHTEFTC GLDFSLQSPT 300
    QVADCSWDET IKIYDPACLT IPA 323
    Length:323
    Mass (Da):35,892
    Last modified:July 1, 1997 - v1
    Checksum:iD405387F7F14B432
    GO
    Isoform 2 (identifier: O00628-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         250-323: FSPFHASVLA...YDPACLTIPA → MESCPVTQTRSQLTATSAFWVQAVLLPQPTE

    Note: No experimental confirmation available.

    Show »
    Length:280
    Mass (Da):30,947
    Checksum:iCCE69B17EE2571BA
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141T → P in PBD9B. 1 Publication
    VAR_016810
    Natural varianti217 – 2171G → R in RCDP1; unknown pathological significance. 1 Publication
    VAR_007725
    Natural varianti218 – 2181A → V in RCDP1. 1 Publication
    VAR_007726

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei250 – 32374FSPFH…LTIPA → MESCPVTQTRSQLTATSAFW VQAVLLPQPTE in isoform 2. 1 PublicationVSP_056393Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U88871 mRNA. Translation: AAC51238.1.
    U76560 mRNA. Translation: AAB50556.1.
    AF180814
    , AF180806, AF180807, AF180808, AF180809, AF180810, AF180811, AF180812, AF180813 Genomic DNA. Translation: AAF37350.1.
    AL121933 Genomic DNA. No translation available.
    AL357082 Genomic DNA. No translation available.
    AL365223 Genomic DNA. No translation available.
    CH471051 Genomic DNA. Translation: EAW47941.1.
    BC006268 mRNA. Translation: AAH06268.1.
    BC031606 mRNA. Translation: AAH31606.1.
    CCDSiCCDS5180.1.
    RefSeqiNP_000279.1. NM_000288.3.
    UniGeneiHs.280932.

    Genome annotation databases

    EnsembliENST00000318471; ENSP00000315680; ENSG00000112357.
    ENST00000541292; ENSP00000441004; ENSG00000112357.
    GeneIDi5191.
    KEGGihsa:5191.
    UCSCiuc003qhd.3. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U88871 mRNA. Translation: AAC51238.1 .
    U76560 mRNA. Translation: AAB50556.1 .
    AF180814
    , AF180806 , AF180807 , AF180808 , AF180809 , AF180810 , AF180811 , AF180812 , AF180813 Genomic DNA. Translation: AAF37350.1 .
    AL121933 Genomic DNA. No translation available.
    AL357082 Genomic DNA. No translation available.
    AL365223 Genomic DNA. No translation available.
    CH471051 Genomic DNA. Translation: EAW47941.1 .
    BC006268 mRNA. Translation: AAH06268.1 .
    BC031606 mRNA. Translation: AAH31606.1 .
    CCDSi CCDS5180.1.
    RefSeqi NP_000279.1. NM_000288.3.
    UniGenei Hs.280932.

    3D structure databases

    ProteinModelPortali O00628.
    SMRi O00628. Positions 11-315.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111214. 9 interactions.
    IntActi O00628. 4 interactions.
    MINTi MINT-2997901.
    STRINGi 9606.ENSP00000315680.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei O00628.

    Proteomic databases

    MaxQBi O00628.
    PRIDEi O00628.

    Protocols and materials databases

    DNASUi 5191.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000318471 ; ENSP00000315680 ; ENSG00000112357 .
    ENST00000541292 ; ENSP00000441004 ; ENSG00000112357 .
    GeneIDi 5191.
    KEGGi hsa:5191.
    UCSCi uc003qhd.3. human.

    Organism-specific databases

    CTDi 5191.
    GeneCardsi GC06P137185.
    GeneReviewsi PEX7.
    HGNCi HGNC:8860. PEX7.
    HPAi HPA049202.
    MIMi 215100. phenotype.
    601757. gene.
    614879. phenotype.
    neXtProti NX_O00628.
    Orphaneti 773. Refsum disease.
    309789. Rhizomelic chondrodysplasia punctata type 1.
    PharmGKBi PA33202.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOGENOMi HOG000204332.
    HOVERGENi HBG003354.
    InParanoidi O00628.
    KOi K13341.
    OMAi CVYQALF.
    PhylomeDBi O00628.
    TreeFami TF323220.

    Enzyme and pathway databases

    SignaLinki O00628.

    Miscellaneous databases

    GenomeRNAii 5191.
    NextBioi 20076.
    PROi O00628.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00628.
    Bgeei O00628.
    CleanExi HS_PEX7.
    Genevestigatori O00628.

    Family and domain databases

    Gene3Di 2.130.10.10. 1 hit.
    InterProi IPR020472. G-protein_beta_WD-40_rep.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF00400. WD40. 6 hits.
    [Graphical view ]
    PRINTSi PR00320. GPROTEINBRPT.
    SMARTi SM00320. WD40. 6 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 1 hit.
    PROSITEi PS00678. WD_REPEATS_1. 3 hits.
    PS50082. WD_REPEATS_2. 4 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor."
      Purdue P.E., Zhang J.W., Skoneczny M., Lazarow P.B.
      Nat. Genet. 15:381-384(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata."
      Braverman N., Steel G., Obie C., Moser A., Moser H., Gould S.J., Valle D.
      Nat. Genet. 15:369-376(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS RCDP1 ARG-217 AND VAL-218.
      Tissue: Retina.
    3. "PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter."
      Braverman N., Steel G., Lin P., Moser A., Moser H., Valle D.
      Genomics 63:181-192(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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).
      Tissue: Brain and Ovary.
    7. Cited for: VARIANT PBD9B PRO-14.

    Entry informationi

    Entry nameiPEX7_HUMAN
    AccessioniPrimary (citable) accession number: O00628
    Secondary accession number(s): C0H5X6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: July 1, 1997
    Last modified: October 1, 2014
    This is version 130 of the entry and version 1 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 6
      Human chromosome 6: 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