Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Decaprenyl-diphosphate synthase subunit 2

Gene

PDSS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

Pathway:iubiquinone biosynthesis

This protein is involved in the pathway ubiquinone biosynthesis, which is part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the pathway ubiquinone biosynthesis and in Cofactor biosynthesis.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Isoprene biosynthesis, Ubiquinone biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS15203-MONOMER.
BRENDAi2.5.1.91. 2681.
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 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:23041. PDSS2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • mitochondrial matrix Source: Reactome
  • transferase complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Coenzyme Q10 deficiency, primary, 3 (COQ10D3)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:614652
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.

Polymorphism and mutation databases

BioMutaiPDSS2.
DMDMi73620006.

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

BgeeiQ86YH6.
CleanExiHS_PDSS2.
ExpressionAtlasiQ86YH6. baseline and differential.
GenevisibleiQ86YH6. HS.

Organism-specific databases

HPAiHPA029685.
HPA029686.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi121373. 5 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.
GeneTreeiENSGT00530000063378.
HOGENOMiHOG000294216.
HOVERGENiHBG058860.
InParanoidiQ86YH6.
KOiK12505.
OMAiKESYITD.
OrthoDBiEOG7XPZ5X.
PhylomeDBiQ86YH6.
TreeFamiTF354277.

Family and domain databases

Gene3Di1.10.600.10. 1 hit.
InterProiIPR008949. Isoprenoid_synthase_dom.
IPR000092. Polyprenyl_synt.
IPR017446. Polyprenyl_synth-rel.
[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. AlignAdd to basket

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

        10         20         30         40         50
MNFRQLLLHL PRYLGASGSP RRLWWSPSLD TISSVGSWRG RSSKSPAHWN
60 70 80 90 100
QVVSEAEKIV GYPTSFMSLR CLLSDELSNI AMQVRKLVGT QHPLLTTARG
110 120 130 140 150
LVHDSWNSLQ LRGLVVLLIS KAAGPSSVNT SCQNYDMVSG IYSCQRSLAE
160 170 180 190 200
ITELIHIALL VHRGIVNLNE LQSSDGPLKD MQFGNKIAIL SGDFLLANAC
210 220 230 240 250
NGLALLQNTK VVELLASALM DLVQGVYHEN STSKESYITD DIGISTWKEQ
260 270 280 290 300
TFLSHGALLA KSCQAAMELA KHDAEVQNMA FQYGKHMAMS HKINSDVQPF
310 320 330 340 350
IKEKTSDSMT FNLNSAPVVL HQEFLGRDLW IKQIGEAQEK GRLDYAKLRE
360 370 380 390
RIKAGKGVTS AIDLCRYHGN KALEALESFP PSEARSALEN IVFAVTRFS
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. Curated
The sequence CAH73572.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI22355.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

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:
EMBLi
GenBanki
DDBJi
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]
XP_011534265.1. XM_011535963.1. [Q86YH6-2]
UniGeneiHs.745008.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_011534265.1. XM_011535963.1. [Q86YH6-2]
UniGeneiHs.745008.

3D structure databases

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

Protein-protein interaction databases

BioGridi121373. 5 interactions.
IntActiQ86YH6. 1 interaction.
MINTiMINT-6778201.
STRINGi9606.ENSP00000358033.

PTM databases

PhosphoSiteiQ86YH6.

Polymorphism and mutation databases

BioMutaiPDSS2.
DMDMi73620006.

Proteomic databases

MaxQBiQ86YH6.
PaxDbiQ86YH6.
PRIDEiQ86YH6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi57107.
GeneCardsiGC06M107473.
HGNCiHGNC:23041. PDSS2.
HPAiHPA029685.
HPA029686.
MIMi610564. gene.
614652. phenotype.
neXtProtiNX_Q86YH6.
Orphaneti255249. Leigh syndrome with nephrotic syndrome.
PharmGKBiPA134957167.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0142.
GeneTreeiENSGT00530000063378.
HOGENOMiHOG000294216.
HOVERGENiHBG058860.
InParanoidiQ86YH6.
KOiK12505.
OMAiKESYITD.
OrthoDBiEOG7XPZ5X.
PhylomeDBiQ86YH6.
TreeFamiTF354277.

Enzyme and pathway databases

UniPathwayiUPA00232.
BioCyciMetaCyc:HS15203-MONOMER.
BRENDAi2.5.1.91. 2681.
ReactomeiREACT_160111. Ubiquinol biosynthesis.

Miscellaneous databases

ChiTaRSiPDSS2. human.
GeneWikiiPDSS2.
GenomeRNAii57107.
NextBioi62953.
PROiQ86YH6.
SOURCEiSearch...

Gene expression databases

BgeeiQ86YH6.
CleanExiHS_PDSS2.
ExpressionAtlasiQ86YH6. baseline and differential.
GenevisibleiQ86YH6. HS.

Family and domain databases

Gene3Di1.10.600.10. 1 hit.
InterProiIPR008949. Isoprenoid_synthase_dom.
IPR000092. Polyprenyl_synt.
IPR017446. Polyprenyl_synth-rel.
[Graphical view]
PANTHERiPTHR12001. PTHR12001. 1 hit.
PfamiPF00348. polyprenyl_synt. 1 hit.
[Graphical view]
SUPFAMiSSF48576. SSF48576. 1 hit.
ProtoNetiSearch...

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: July 22, 2015
This is version 114 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.