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Q86YH6

- DLP1_HUMAN

UniProt

Q86YH6 - DLP1_HUMAN

Protein

Decaprenyl-diphosphate synthase subunit 2

Gene

PDSS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (16 Aug 2005)
      Previous versions | rss
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    Functioni

    Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10.1 Publication

    Catalytic activityi

    (2E,6E)-farnesyl diphosphate + 7 isopentenyl diphosphate = 7 diphosphate + all-trans-decaprenyl diphosphate.1 Publication

    Pathwayi

    GO - Molecular functioni

    1. protein heterodimerization activity Source: HGNC
    2. trans-hexaprenyltranstransferase activity Source: Ensembl
    3. trans-octaprenyltranstransferase activity Source: Ensembl

    GO - Biological processi

    1. isoprenoid biosynthetic process Source: HGNC
    2. protein heterotetramerization Source: Ensembl
    3. regulation of body fluid levels Source: Ensembl
    4. small molecule metabolic process Source: Reactome
    5. ubiquinone biosynthetic process Source: HGNC

    Keywords - Molecular functioni

    Transferase

    Keywords - Biological processi

    Isoprene biosynthesis, Ubiquinone biosynthesis

    Enzyme and pathway databases

    BioCyciMetaCyc:HS15203-MONOMER.
    ReactomeiREACT_160111. Ubiquinol biosynthesis.
    UniPathwayiUPA00232.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Decaprenyl-diphosphate synthase subunit 2 (EC:2.5.1.91)
    Alternative name(s):
    All-trans-decaprenyl-diphosphate synthase subunit 2
    Candidate tumor suppressor protein
    Decaprenyl pyrophosphate synthase subunit 2
    Gene namesi
    Name:PDSS2
    Synonyms:C6orf210, DLP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:23041. PDSS2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. mitochondrial matrix Source: Reactome

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652]: A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti382 – 3821S → L in COQ10D3. 1 Publication
    VAR_055398

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614652. phenotype.
    Orphaneti255249. Leigh syndrome with nephrotic syndrome.
    PharmGKBiPA134957167.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 399399Decaprenyl-diphosphate synthase subunit 2PRO_0000123978Add
    BLAST

    Proteomic databases

    MaxQBiQ86YH6.
    PaxDbiQ86YH6.
    PRIDEiQ86YH6.

    PTM databases

    PhosphoSiteiQ86YH6.

    Expressioni

    Gene expression databases

    ArrayExpressiQ86YH6.
    BgeeiQ86YH6.
    CleanExiHS_PDSS2.
    GenevestigatoriQ86YH6.

    Organism-specific databases

    HPAiHPA029685.
    HPA029686.

    Interactioni

    Subunit structurei

    Heterotetramer of 2 DPS1/TPRT and 2 DLP1 subunits.1 Publication

    Protein-protein interaction databases

    BioGridi121373. 2 interactions.
    IntActiQ86YH6. 1 interaction.
    MINTiMINT-6778201.
    STRINGi9606.ENSP00000358033.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86YH6.
    SMRiQ86YH6. Positions 72-383.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the FPP/GGPP synthase family.Curated

    Phylogenomic databases

    eggNOGiCOG0142.
    HOGENOMiHOG000294216.
    HOVERGENiHBG058860.
    InParanoidiQ86YH6.
    KOiK12505.
    OMAiIILAMQD.
    OrthoDBiEOG7XPZ5X.
    PhylomeDBiQ86YH6.
    TreeFamiTF354277.

    Family and domain databases

    Gene3Di1.10.600.10. 1 hit.
    InterProiIPR000092. Polyprenyl_synt.
    IPR017446. Polyprenyl_synth-rel.
    IPR008949. Terpenoid_synth.
    [Graphical view]
    PANTHERiPTHR12001. PTHR12001. 1 hit.
    PfamiPF00348. polyprenyl_synt. 1 hit.
    [Graphical view]
    SUPFAMiSSF48576. SSF48576. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q86YH6-1) [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

    MNFRQLLLHL PRYLGASGSP RRLWWSPSLD TISSVGSWRG RSSKSPAHWN    50
    QVVSEAEKIV GYPTSFMSLR CLLSDELSNI AMQVRKLVGT QHPLLTTARG 100
    LVHDSWNSLQ LRGLVVLLIS KAAGPSSVNT SCQNYDMVSG IYSCQRSLAE 150
    ITELIHIALL VHRGIVNLNE LQSSDGPLKD MQFGNKIAIL SGDFLLANAC 200
    NGLALLQNTK VVELLASALM DLVQGVYHEN STSKESYITD DIGISTWKEQ 250
    TFLSHGALLA KSCQAAMELA KHDAEVQNMA FQYGKHMAMS HKINSDVQPF 300
    IKEKTSDSMT FNLNSAPVVL HQEFLGRDLW IKQIGEAQEK GRLDYAKLRE 350
    RIKAGKGVTS AIDLCRYHGN KALEALESFP PSEARSALEN IVFAVTRFS 399
    Length:399
    Mass (Da):44,129
    Last modified:August 16, 2005 - v2
    Checksum:iC6519BC97C0ECA02
    GO
    Isoform 2 (identifier: Q86YH6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         211-240: VVELLASALMDLVQGVYHENSTSKESYITD → SFSFNGPIAIYQMGDCESAWILSKHPRALS
         241-399: Missing.

    Show »
    Length:240
    Mass (Da):26,377
    Checksum:i5F340E8F0A052696
    GO

    Sequence cautioni

    The sequence AAH29491.1 differs from that shown. Reason: Frameshift at position 28.
    The sequence CAH73572.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI22355.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti335 – 3351G → R in AAH39906. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31F → L.
    Corresponds to variant rs3734675 [ dbSNP | Ensembl ].
    VAR_049645
    Natural varianti382 – 3821S → L in COQ10D3. 1 Publication
    VAR_055398

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei211 – 24030VVELL…SYITD → SFSFNGPIAIYQMGDCESAW ILSKHPRALS in isoform 2. 1 PublicationVSP_017098Add
    BLAST
    Alternative sequencei241 – 399159Missing in isoform 2. 1 PublicationVSP_017099Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB210839 mRNA. Translation: BAE48217.1.
    AF254956 mRNA. Translation: AAF97788.1.
    AL121957, AL590489 Genomic DNA. Translation: CAI22355.1. Sequence problems.
    AL590489, AL121957 Genomic DNA. Translation: CAH73572.1. Sequence problems.
    AL590489
    , AL121957, AL355586, AL591516 Genomic DNA. Translation: CAH73573.1.
    AL355586
    , AL121957, AL590489, AL591516 Genomic DNA. Translation: CAI16109.1.
    AL591516
    , AL121957, AL355586, AL590489 Genomic DNA. Translation: CAI40036.1.
    AL121957
    , AL355586, AL590489, AL591516 Genomic DNA. Translation: CAI22356.1.
    BC029491 mRNA. Translation: AAH29491.1. Frameshift.
    BC039906 mRNA. Translation: AAH39906.1.
    CCDSiCCDS5059.1. [Q86YH6-1]
    RefSeqiNP_065114.3. NM_020381.3. [Q86YH6-1]
    UniGeneiHs.745008.

    Genome annotation databases

    EnsembliENST00000369031; ENSP00000358027; ENSG00000164494. [Q86YH6-2]
    ENST00000369037; ENSP00000358033; ENSG00000164494. [Q86YH6-1]
    GeneIDi57107.
    KEGGihsa:57107.
    UCSCiuc003prt.2. human. [Q86YH6-1]
    uc003prv.3. human. [Q86YH6-2]

    Polymorphism databases

    DMDMi73620006.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB210839 mRNA. Translation: BAE48217.1 .
    AF254956 mRNA. Translation: AAF97788.1 .
    AL121957 , AL590489 Genomic DNA. Translation: CAI22355.1 . Sequence problems.
    AL590489 , AL121957 Genomic DNA. Translation: CAH73572.1 . Sequence problems.
    AL590489
    , AL121957 , AL355586 , AL591516 Genomic DNA. Translation: CAH73573.1 .
    AL355586
    , AL121957 , AL590489 , AL591516 Genomic DNA. Translation: CAI16109.1 .
    AL591516
    , AL121957 , AL355586 , AL590489 Genomic DNA. Translation: CAI40036.1 .
    AL121957
    , AL355586 , AL590489 , AL591516 Genomic DNA. Translation: CAI22356.1 .
    BC029491 mRNA. Translation: AAH29491.1 . Frameshift.
    BC039906 mRNA. Translation: AAH39906.1 .
    CCDSi CCDS5059.1. [Q86YH6-1 ]
    RefSeqi NP_065114.3. NM_020381.3. [Q86YH6-1 ]
    UniGenei Hs.745008.

    3D structure databases

    ProteinModelPortali Q86YH6.
    SMRi Q86YH6. Positions 72-383.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121373. 2 interactions.
    IntActi Q86YH6. 1 interaction.
    MINTi MINT-6778201.
    STRINGi 9606.ENSP00000358033.

    PTM databases

    PhosphoSitei Q86YH6.

    Polymorphism databases

    DMDMi 73620006.

    Proteomic databases

    MaxQBi Q86YH6.
    PaxDbi Q86YH6.
    PRIDEi Q86YH6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000369031 ; ENSP00000358027 ; ENSG00000164494 . [Q86YH6-2 ]
    ENST00000369037 ; ENSP00000358033 ; ENSG00000164494 . [Q86YH6-1 ]
    GeneIDi 57107.
    KEGGi hsa:57107.
    UCSCi uc003prt.2. human. [Q86YH6-1 ]
    uc003prv.3. human. [Q86YH6-2 ]

    Organism-specific databases

    CTDi 57107.
    GeneCardsi GC06M107473.
    HGNCi HGNC:23041. PDSS2.
    HPAi HPA029685.
    HPA029686.
    MIMi 610564. gene.
    614652. phenotype.
    neXtProti NX_Q86YH6.
    Orphaneti 255249. Leigh syndrome with nephrotic syndrome.
    PharmGKBi PA134957167.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0142.
    HOGENOMi HOG000294216.
    HOVERGENi HBG058860.
    InParanoidi Q86YH6.
    KOi K12505.
    OMAi IILAMQD.
    OrthoDBi EOG7XPZ5X.
    PhylomeDBi Q86YH6.
    TreeFami TF354277.

    Enzyme and pathway databases

    UniPathwayi UPA00232 .
    BioCyci MetaCyc:HS15203-MONOMER.
    Reactomei REACT_160111. Ubiquinol biosynthesis.

    Miscellaneous databases

    GeneWikii PDSS2.
    GenomeRNAii 57107.
    NextBioi 62953.
    PROi Q86YH6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q86YH6.
    Bgeei Q86YH6.
    CleanExi HS_PDSS2.
    Genevestigatori Q86YH6.

    Family and domain databases

    Gene3Di 1.10.600.10. 1 hit.
    InterProi IPR000092. Polyprenyl_synt.
    IPR017446. Polyprenyl_synth-rel.
    IPR008949. Terpenoid_synth.
    [Graphical view ]
    PANTHERi PTHR12001. PTHR12001. 1 hit.
    Pfami PF00348. polyprenyl_synt. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48576. SSF48576. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans."
      Saiki R., Nagata A., Kainou T., Matsuda H., Kawamukai M.
      FEBS J. 272:5606-5622(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, CATALYTIC ACTIVITY, SUBUNIT.
    2. "Characterization of a complex chromosome rearrangement involving 6q in a melanoma cell line: isolation of a candidate tumor suppressor gene interrupted by the breakpoint at 6q16."
      Guan X.-Y.Y., Zhou H., Sham J.S.T., Zhang H.-E., Trent J.M.
      Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Melanoma.
    3. "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].
    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).
      Tissue: Testis.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. "Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations."
      Lopez L.C., Schuelke M., Quinzii C.M., Kanki T., Rodenburg R.J.T., Naini A., Dimauro S., Hirano M.
      Am. J. Hum. Genet. 79:1125-1129(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT COQ10D3 LEU-382.

    Entry informationi

    Entry nameiDLP1_HUMAN
    AccessioniPrimary (citable) accession number: Q86YH6
    Secondary accession number(s): Q33DR4
    , Q4G158, Q5VU38, Q5VU39, Q9NR58
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2005
    Last sequence update: August 16, 2005
    Last modified: October 1, 2014
    This is version 106 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 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3