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Q86YH6 (DLP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:PDSS2
Synonyms:C6orf210, DLP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length399 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10. Ref.1

Catalytic activity

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

Pathway

Cofactor biosynthesis; ubiquinone biosynthesis.

Subunit structure

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

Subcellular location

Mitochondrion Potential.

Involvement in disease

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. Ref.6

Sequence similarities

Belongs to the FPP/GGPP synthase family.

Sequence caution

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.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86YH6-1)

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.
Isoform 2 (identifier: Q86YH6-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 399399Decaprenyl-diphosphate synthase subunit 2
PRO_0000123978

Natural variations

Alternative sequence211 – 24030VVELL…SYITD → SFSFNGPIAIYQMGDCESAW ILSKHPRALS in isoform 2.
VSP_017098
Alternative sequence241 – 399159Missing in isoform 2.
VSP_017099
Natural variant31F → L.
Corresponds to variant rs3734675 [ dbSNP | Ensembl ].
VAR_049645
Natural variant3821S → L in COQ10D3. Ref.6
VAR_055398

Experimental info

Sequence conflict3351G → R in AAH39906. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 16, 2005. Version 2.
Checksum: C6519BC97C0ECA02

FASTA39944,129
        10         20         30         40         50         60 
MNFRQLLLHL PRYLGASGSP RRLWWSPSLD TISSVGSWRG RSSKSPAHWN QVVSEAEKIV 

        70         80         90        100        110        120 
GYPTSFMSLR CLLSDELSNI AMQVRKLVGT QHPLLTTARG LVHDSWNSLQ LRGLVVLLIS 

       130        140        150        160        170        180 
KAAGPSSVNT SCQNYDMVSG IYSCQRSLAE ITELIHIALL VHRGIVNLNE LQSSDGPLKD 

       190        200        210        220        230        240 
MQFGNKIAIL SGDFLLANAC NGLALLQNTK VVELLASALM DLVQGVYHEN STSKESYITD 

       250        260        270        280        290        300 
DIGISTWKEQ TFLSHGALLA KSCQAAMELA KHDAEVQNMA FQYGKHMAMS HKINSDVQPF 

       310        320        330        340        350        360 
IKEKTSDSMT FNLNSAPVVL HQEFLGRDLW IKQIGEAQEK GRLDYAKLRE RIKAGKGVTS 

       370        380        390 
AIDLCRYHGN KALEALESFP PSEARSALEN IVFAVTRFS 

« Hide

Isoform 2 [UniParc].

Checksum: 5F340E8F0A052696
Show »

FASTA24026,377

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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 expand/collapse EMBL AC list , AL121957, AL355586, AL591516 Genomic DNA. Translation: CAH73573.1.
AL355586 expand/collapse EMBL AC list , AL121957, AL590489, AL591516 Genomic DNA. Translation: CAI16109.1.
AL591516 expand/collapse EMBL AC list , AL121957, AL355586, AL590489 Genomic DNA. Translation: CAI40036.1.
AL121957 expand/collapse EMBL AC list , AL355586, AL590489, AL591516 Genomic DNA. Translation: CAI22356.1.
BC029491 mRNA. Translation: AAH29491.1. Frameshift.
BC039906 mRNA. Translation: AAH39906.1.
RefSeqNP_065114.3. NM_020381.3.
UniGeneHs.745008.

3D structure databases

ProteinModelPortalQ86YH6.
SMRQ86YH6. Positions 72-383.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121373. 2 interactions.
IntActQ86YH6. 1 interaction.
MINTMINT-6778201.
STRING9606.ENSP00000358033.

PTM databases

PhosphoSiteQ86YH6.

Polymorphism databases

DMDM73620006.

Proteomic databases

PaxDbQ86YH6.
PRIDEQ86YH6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369031; ENSP00000358027; ENSG00000164494. [Q86YH6-2]
ENST00000369037; ENSP00000358033; ENSG00000164494. [Q86YH6-1]
ENST00000607324; ENSP00000475526; ENSG00000272309. [Q86YH6-2]
ENST00000607442; ENSP00000476128; ENSG00000272309. [Q86YH6-1]
GeneID57107.
KEGGhsa:57107.
UCSCuc003prt.2. human. [Q86YH6-1]
uc003prv.3. human. [Q86YH6-2]

Organism-specific databases

CTD57107.
GeneCardsGC06M107473.
HGNCHGNC:23041. PDSS2.
HPAHPA029685.
HPA029686.
MIM610564. gene.
614652. phenotype.
neXtProtNX_Q86YH6.
Orphanet255249. Leigh syndrome with nephrotic syndrome.
PharmGKBPA134957167.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0142.
HOGENOMHOG000294216.
HOVERGENHBG058860.
InParanoidQ86YH6.
KOK12505.
OMAQIGEAQE.
OrthoDBEOG7XPZ5X.
PhylomeDBQ86YH6.
TreeFamTF354277.

Enzyme and pathway databases

BioCycMetaCyc:HS15203-MONOMER.
ReactomeREACT_111217. Metabolism.
UniPathwayUPA00232.

Gene expression databases

ArrayExpressQ86YH6.
BgeeQ86YH6.
CleanExHS_PDSS2.
GenevestigatorQ86YH6.

Family and domain databases

Gene3D1.10.600.10. 1 hit.
InterProIPR000092. Polyprenyl_synt.
IPR017446. Polyprenyl_synth-rel.
IPR008949. Terpenoid_synth.
[Graphical view]
PANTHERPTHR12001. PTHR12001. 1 hit.
PfamPF00348. polyprenyl_synt. 1 hit.
[Graphical view]
SUPFAMSSF48576. SSF48576. 1 hit.
ProtoNetSearch...

Other

GeneWikiPDSS2.
GenomeRNAi57107.
NextBio62953.
PROQ86YH6.
SOURCESearch...

Entry information

Entry nameDLP1_HUMAN
AccessionPrimary (citable) accession number: Q86YH6
Secondary accession number(s): Q33DR4 expand/collapse secondary AC list , Q4G158, Q5VU38, Q5VU39, Q9NR58
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: August 16, 2005
Last modified: April 16, 2014
This is version 101 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM