Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23590
Gene name	Decaprenyl diphosphate synthase subunit 1
Gene symbol	PDSS1
Synonyms (NCBI Gene)	COQ1COQ10D2COQ1ADPSSPSTPRTTPTTPT 1hDPS1
Chromosome	10
Chromosome location	10p12.1
Summary	The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopent

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119463988	T>A,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs863224162	G>T	Likely-pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant
rs863224163	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1057519353	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all (55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019328	hsa-miR-148b-3p	Microarray	17612493
MIRT022672	hsa-miR-124-3p	Microarray	18668037
MIRT027634	hsa-miR-98-5p	Microarray	19088304
MIRT044710	hsa-miR-320a	CLASH	23622248
MIRT044367	hsa-miR-106b-5p	CLASH	23622248
MIRT1223383	hsa-miR-132	CLIP-seq
MIRT1223384	hsa-miR-140-3p	CLIP-seq
MIRT1223385	hsa-miR-212	CLIP-seq
MIRT1223386	hsa-miR-22	CLIP-seq
MIRT1223387	hsa-miR-30a	CLIP-seq
MIRT1223388	hsa-miR-30b	CLIP-seq
MIRT1223389	hsa-miR-30c	CLIP-seq
MIRT1223390	hsa-miR-30d	CLIP-seq
MIRT1223391	hsa-miR-30e	CLIP-seq
MIRT1223392	hsa-miR-3133	CLIP-seq
MIRT1223393	hsa-miR-3201	CLIP-seq
MIRT1223394	hsa-miR-3622a-5p	CLIP-seq
MIRT1223395	hsa-miR-3691-5p	CLIP-seq
MIRT1223396	hsa-miR-3692	CLIP-seq
MIRT1223397	hsa-miR-4423-3p	CLIP-seq
MIRT1223398	hsa-miR-4490	CLIP-seq
MIRT1223399	hsa-miR-4491	CLIP-seq
MIRT1223400	hsa-miR-4657	CLIP-seq
MIRT1223401	hsa-miR-4662a-3p	CLIP-seq
MIRT1223402	hsa-miR-4752	CLIP-seq
MIRT1223403	hsa-miR-4774-5p	CLIP-seq
MIRT1223404	hsa-miR-4791	CLIP-seq
MIRT1223405	hsa-miR-622	CLIP-seq
MIRT1223406	hsa-miR-630	CLIP-seq
MIRT1223386	hsa-miR-22	CLIP-seq
MIRT1223394	hsa-miR-3622a-5p	CLIP-seq
MIRT1223397	hsa-miR-4423-3p	CLIP-seq
MIRT1223398	hsa-miR-4490	CLIP-seq
MIRT1223401	hsa-miR-4662a-3p	CLIP-seq
MIRT1223403	hsa-miR-4774-5p	CLIP-seq
MIRT1223405	hsa-miR-622	CLIP-seq
MIRT1223406	hsa-miR-630	CLIP-seq
MIRT1223386	hsa-miR-22	CLIP-seq
MIRT1223394	hsa-miR-3622a-5p	CLIP-seq
MIRT1223396	hsa-miR-3692	CLIP-seq
MIRT1223397	hsa-miR-4423-3p	CLIP-seq
MIRT1223398	hsa-miR-4490	CLIP-seq
MIRT1223401	hsa-miR-4662a-3p	CLIP-seq
MIRT1223403	hsa-miR-4774-5p	CLIP-seq
MIRT2292999	hsa-miR-520g	CLIP-seq
MIRT2293000	hsa-miR-520h	CLIP-seq
MIRT1223405	hsa-miR-622	CLIP-seq
MIRT1223406	hsa-miR-630	CLIP-seq
MIRT1223386	hsa-miR-22	CLIP-seq
MIRT1223394	hsa-miR-3622a-5p	CLIP-seq
MIRT1223397	hsa-miR-4423-3p	CLIP-seq
MIRT1223398	hsa-miR-4490	CLIP-seq
MIRT1223401	hsa-miR-4662a-3p	CLIP-seq
MIRT1223403	hsa-miR-4774-5p	CLIP-seq
MIRT1223405	hsa-miR-622	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004659	Function	Prenyltransferase activity	IBA
GO:0004659	Function	Prenyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	16262699
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IBA
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	16262699
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0008299	Process	Isoprenoid biosynthetic process	IBA
GO:0008299	Process	Isoprenoid biosynthetic process	IDA	16262699
GO:0008299	Process	Isoprenoid biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032476	Component	Polyprenyl diphosphate synthase complex	IBA
GO:0032478	Component	Heterotetrameric polyprenyl diphosphate synthase complex	IDA	16262699
GO:0032478	Component	Heterotetrameric polyprenyl diphosphate synthase complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0052923	Function	All-trans-nonaprenyl-diphosphate synthase (geranyl-diphosphate specific) activity	IEA
GO:0097269	Function	All-trans-decaprenyl-diphosphate synthase activity	IDA	16262699
GO:0097269	Function	All-trans-decaprenyl-diphosphate synthase activity	IEA
GO:0110142	Component	Ubiquinone biosynthesis complex	IEA
GO:1990234	Component	Transferase complex	IEA

MIM	HGNC	e!Ensembl
607429	17759	ENSG00000148459

Q5T2R2

Protein name

All trans-polyprenyl-diphosphate synthase PDSS1 (All-trans-decaprenyl-diphosphate synthase subunit 1) (EC 2.5.1.91) (Decaprenyl pyrophosphate synthase subunit 1) (Decaprenyl-diphosphate synthase subunit 1) (Solanesyl-diphosphate synthase subunit 1) (Trans

Protein function

Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination of the

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00348	polyprenyl_synt	118 → 367	Polyprenyl synthetase	Domain

Sequence

MASRWWRWRRGCSWKPAARSPGPGSPGRAGPLGPSAAAEVRAQVHRRKGLDLSQIPYINL
VKHLTSACPNVCRISRFHHTTPDSKTHSGEKYTDPFKLGWRDLKGLYEDIRKELLISTSE
LKEMSEYYFDGKGKAFRPIIVALMARACNIHHNNSRHVQASQRAIALIAEMIHTASLVHD
DVIDDASSRRGKHTVNKIWGEKKAVLAGDLILSAASIALARIGNTTVISILTQVIEDLVR
GEFLQLGSKENENERFAHYLEKTFKKTASLIANSCKAVSVLGCPDPVVHEIAYQYGKNVG
IAFQLIDDVLDFTSCSDQMGKPTSADLKLGLATGPVLFACQQFPEMNAMIMRRFSLPGDV
DRARQYVLQSDGVQQTTYLAQQYCHEAIREISKLRPSPERDALIQLSEIVLTRDK

Sequence length

415

Interactions

View interactions

	KEGG		Reactome
	Terpenoid backbone biosynthesis		Ubiquinol biosynthesis

113

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	Pathogenic; Likely pathogenic	rs1425736863, rs2132231934, rs119463988, rs1232289653, rs767499454, rs2491583718, rs1278404579, rs1835152848, rs1057519354	RCV001335650 RCV005033560 RCV000003393 RCV004786723 RCV003221752 RCV003221754 RCV003221755 RCV003225706 RCV000416401

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs1046187	RCV005891830
Coenzyme Q10 deficiency	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs537781419, rs34296355, rs144094307, rs527296865	RCV000294430 RCV000302465 RCV000278338 RCV000385377
Lung cancer	Benign; Likely benign	rs1046187	RCV005891832
Malignant tumor of esophagus	Benign; Likely benign	rs1046187	RCV005891829
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs1046187	RCV005891831
PDSS1-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	rs77826284, rs116424900, rs753411855, rs1554799867, rs114640034, rs773495425	RCV003975127 RCV004757132 RCV003946300 RCV003896866 RCV003935727 RCV003925841
See cases	Uncertain significance	rs2132269135	RCV002252916
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs1046187	RCV005891833

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	32887635
Cerebellar Diseases	Associate	19096106
Coenzyme Q10 Deficiency	Associate	17332895
Coenzyme Q10 Deficiency	Stimulate	19096106
Diabetes Mellitus Type 2	Associate	21423737
Eye Diseases	Associate	36420660
Hearing Loss Sensorineural	Associate	33285023
Hypoxia	Associate	32887635
Immunologic Deficiency Syndromes	Associate	33285023
Melanoma Cutaneous Malignant	Associate	32232919
Mitochondrial Diseases	Associate	17332895
Obesity	Associate	21423737
Optic Atrophy	Associate	33285023

PDSS1 (decaprenyl diphosphate synthase subunit 1)