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Q86YH6

- DLP1_HUMAN

UniProt

Q86YH6 - DLP1_HUMAN

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Protein

Decaprenyl-diphosphate synthase subunit 2

Gene
PDSS2, C6orf210, DLP1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

Mitochondrion Reviewed prediction

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. mitochondrial matrix Source: Reactome
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

Family & Domainsi

Sequence similaritiesi

Belongs to the FPP/GGPP synthase family.

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.

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. VSP_017098Add
BLAST
Alternative sequencei241 – 399159Missing in isoform 2. VSP_017099Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti335 – 3351G → R in AAH39906. 1 Publication

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]
ENST00000607324; ENSP00000475526; ENSG00000272309. [Q86YH6-2]
ENST00000607442; ENSP00000476128; ENSG00000272309. [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 ]
ENST00000607324 ; ENSP00000475526 ; ENSG00000272309 . [Q86YH6-2 ]
ENST00000607442 ; ENSP00000476128 ; ENSG00000272309 . [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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 105 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

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