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Protein

Decaprenyl-diphosphate synthase subunit 2

Gene

PDSS2

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

Keywordsi

Molecular functionTransferase
Biological processIsoprene biosynthesis, Ubiquinone biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS15203-MONOMER
BRENDAi2.5.1.91 2681
ReactomeiR-HSA-2142789 Ubiquinol biosynthesis
UniPathwayi
UPA00232

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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000164494.11
HGNCiHGNC:23041 PDSS2
MIMi610564 gene
neXtProtiNX_Q86YH6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_055398382S → L in COQ10D3. 1 PublicationCorresponds to variant dbSNP:rs118203956EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi57107
MalaCardsiPDSS2
MIMi614652 phenotype
OpenTargetsiENSG00000164494
Orphaneti255249 Leigh syndrome with nephrotic syndrome
PharmGKBiPA134957167

Polymorphism and mutation databases

BioMutaiPDSS2
DMDMi73620006

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001239781 – 399Decaprenyl-diphosphate synthase subunit 2Add BLAST399

Proteomic databases

EPDiQ86YH6
MaxQBiQ86YH6
PaxDbiQ86YH6
PeptideAtlasiQ86YH6
PRIDEiQ86YH6
ProteomicsDBi70415
70416 [Q86YH6-2]

PTM databases

iPTMnetiQ86YH6
PhosphoSitePlusiQ86YH6

Expressioni

Gene expression databases

BgeeiENSG00000164494 Expressed in 199 organ(s), highest expression level in amniotic fluid
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121373, 16 interactors
IntActiQ86YH6, 1 interactor
MINTiQ86YH6
STRINGi9606.ENSP00000358033

Structurei

3D structure databases

ProteinModelPortaliQ86YH6
SMRiQ86YH6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FPP/GGPP synthase family.Curated

Phylogenomic databases

eggNOGiKOG0776 Eukaryota
COG0142 LUCA
GeneTreeiENSGT00530000063378
HOGENOMiHOG000294216
HOVERGENiHBG058860
InParanoidiQ86YH6
KOiK12505
OMAiIYPSQRN
OrthoDBiEOG091G0B45
PhylomeDBiQ86YH6
TreeFamiTF354277

Family and domain databases

Gene3Di1.10.600.10, 1 hit
InterProiView protein in InterPro
IPR008949 Isoprenoid_synthase_dom_sf
IPR000092 Polyprenyl_synt
PfamiView protein in Pfam
PF00348 polyprenyl_synt, 1 hit
SUPFAMiSSF48576 SSF48576, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JRD6Q5JRD6_HUMAN
Decaprenyl-diphosphate synthase sub...
PDSS2
80Annotation score:

Sequence cautioni

The sequence AAH29491 differs from that shown. Reason: Frameshift at position 28.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti335G → R in AAH39906 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0496453F → L. Corresponds to variant dbSNP:rs3734675EnsemblClinVar.1
Natural variantiVAR_055398382S → L in COQ10D3. 1 PublicationCorresponds to variant dbSNP:rs118203956EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017098211 – 240VVELL…SYITD → SFSFNGPIAIYQMGDCESAW ILSKHPRALS in isoform 2. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_017099241 – 399Missing in isoform 2. 1 PublicationAdd BLAST159

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB210839 mRNA Translation: BAE48217.1
AF254956 mRNA Translation: AAF97788.1
AL121957 Genomic DNA No translation available.
AL355586 Genomic DNA No translation available.
AL590489 Genomic DNA No translation available.
AL591516 Genomic DNA No translation available.
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_011535963.2 [Q86YH6-2]
UniGeneiHs.745008

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB210839 mRNA Translation: BAE48217.1
AF254956 mRNA Translation: AAF97788.1
AL121957 Genomic DNA No translation available.
AL355586 Genomic DNA No translation available.
AL590489 Genomic DNA No translation available.
AL591516 Genomic DNA No translation available.
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_011535963.2 [Q86YH6-2]
UniGeneiHs.745008

3D structure databases

ProteinModelPortaliQ86YH6
SMRiQ86YH6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121373, 16 interactors
IntActiQ86YH6, 1 interactor
MINTiQ86YH6
STRINGi9606.ENSP00000358033

PTM databases

iPTMnetiQ86YH6
PhosphoSitePlusiQ86YH6

Polymorphism and mutation databases

BioMutaiPDSS2
DMDMi73620006

Proteomic databases

EPDiQ86YH6
MaxQBiQ86YH6
PaxDbiQ86YH6
PeptideAtlasiQ86YH6
PRIDEiQ86YH6
ProteomicsDBi70415
70416 [Q86YH6-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi57107
DisGeNETi57107
EuPathDBiHostDB:ENSG00000164494.11
GeneCardsiPDSS2
HGNCiHGNC:23041 PDSS2
HPAiHPA029685
HPA029686
MalaCardsiPDSS2
MIMi610564 gene
614652 phenotype
neXtProtiNX_Q86YH6
OpenTargetsiENSG00000164494
Orphaneti255249 Leigh syndrome with nephrotic syndrome
PharmGKBiPA134957167
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0776 Eukaryota
COG0142 LUCA
GeneTreeiENSGT00530000063378
HOGENOMiHOG000294216
HOVERGENiHBG058860
InParanoidiQ86YH6
KOiK12505
OMAiIYPSQRN
OrthoDBiEOG091G0B45
PhylomeDBiQ86YH6
TreeFamiTF354277

Enzyme and pathway databases

UniPathwayi
UPA00232

BioCyciMetaCyc:HS15203-MONOMER
BRENDAi2.5.1.91 2681
ReactomeiR-HSA-2142789 Ubiquinol biosynthesis

Miscellaneous databases

ChiTaRSiPDSS2 human
GeneWikiiPDSS2
GenomeRNAii57107
PROiPR:Q86YH6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164494 Expressed in 199 organ(s), highest expression level in amniotic fluid
CleanExiHS_PDSS2
ExpressionAtlasiQ86YH6 baseline and differential
GenevisibleiQ86YH6 HS

Family and domain databases

Gene3Di1.10.600.10, 1 hit
InterProiView protein in InterPro
IPR008949 Isoprenoid_synthase_dom_sf
IPR000092 Polyprenyl_synt
PfamiView protein in Pfam
PF00348 polyprenyl_synt, 1 hit
SUPFAMiSSF48576 SSF48576, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDLP1_HUMAN
AccessioniPrimary (citable) accession number: Q86YH6
Secondary accession number(s): Q33DR4
, Q4G158, Q5VU38, Q5VU39, Q9NR58
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: August 16, 2005
Last modified: November 7, 2018
This is version 137 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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