PDSS1 - decaprenyl diphosphate synthase subunit 1 Gene

Homo sapiens

Also known as DPS; SPS; TPT; COQ1; TPRT; COQ1A; TPT 1; hDPS1; COQ10D2

Gene ID: 23590 | Gene type: protein coding

About PDSS1

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:26,697,701-26,746,798 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in duodenum (RPKM 4.4), small intestine (RPKM 3.8) and 24 other tissues.

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 isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]

PDSS1 Products(3)

mRNA	Protein	Name
NM_001321978.2	NP_001308907.1	all trans-polyprenyl-diphosphate synthase PDSS1 isoform 2
NM_001321979.2	NP_001308908.1	all trans-polyprenyl-diphosphate synthase PDSS1 isoform 3
NM_014317.5	NP_055132.2	all trans-polyprenyl-diphosphate synthase PDSS1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to all-trans-decaprenyl-diphosphate synthase activity	IDA IDA: Inferred from direct assay	16262699	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16262699	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in isoprenoid biosynthetic process	IDA IDA: Inferred from direct assay	16262699	GOA
involved in ubiquinone biosynthetic process	IDA IDA: Inferred from direct assay	16262699	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of heterotetrameric polyprenyl diphosphate synthase complex	IDA IDA: Inferred from direct assay	16262699	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDSS1 Protein Structure

polyprenyl_synt

0
100
200
300
415 a.a.

Protein Preferred Names

Protein Names

all trans-polyprenyl-diphosphate synthase PDSS1

all-trans-decaprenyl-diphosphate synthase subunit 1

PDSS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82976	DPS1 Antibody (YA2721)	WB, IP	Human

Related Diseases

Diseases

Alias

Coenzyme Q10 Deficiency, Primary, 2

Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome	COQ10D2
Primary Coenzyme Q10 Deficiency 2	Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome
Coenzyme Q10 Deficiency, Primary, Type 2

Coenzyme Q10 Deficiency, Primary, 7

Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome	COQ10D7
Primary Coenzyme Q10 Deficiency 7	Coq4-Related Neonatal Encephalomyopathy
Coenzyme Q10 Deficiency, Primary, Type 7

Coenzyme Q10 Deficiency Disease

Coenzyme Q10 Deficiency	Coq10 Deficiency
Primary Coenzyme Q10 Deficiency	Coenzyme Q Deficiency
Coq Deficiency	Primary Coq10 Deficiency
Ubiquinone Deficiency	Coenzyme Q10 Deficiency, Primary
Coq10 Deficiency, Primary

Coenzyme Q10 Deficiency, Primary, 3

COQ10D3	Primary Coenzyme Q10 Deficiency 3
Coenzyme Q10 Deficiency, Primary, Type 3

Coenzyme Q10 Deficiency, Primary, 5

Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome	COQ10D5
Primary Coenzyme Q10 Deficiency 5	Coenzyme Q10 Deficiency, Primary, Type 5

Coenzyme Q10 Deficiency, Primary, 4

Scar9	Spinocerebellar Ataxia, Autosomal Recessive 9
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	COQ10D4
Arca2	Autosomal Recessive Cerebellar Ataxia Type 2
Primary Coenzyme Q10 Deficiency 4	Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency
Autosomal Recessive Spinocerebellar Ataxia Type 9	Autosomal Recessive Spinocerebellar Ataxia 9
Spinocerebellar Ataxia Autosomal Recessive 9	Coenzyme Q10 Deficiency, Primary, Type 4
Ataxia, Spinocerebellar, Autosomal Recessive, Type 9

Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type

MRXSBL	Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance	Mental Retardation, X-Linked 60, Formerly
Mrx60, Formerly	Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type
Mrx60	Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance

Coenzyme Q10 Deficiency, Primary, 6

Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness	COQ10D6
Primary Coenzyme Q10 Deficiency 6	Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Hearing Loss
Srns With Sensorineural Deafness	Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness
Coenzyme Q10 Deficiency, Primary, Type 6

Cardiomyopathy, Dilated, 1p

Dilated Cardiomyopathy 1p	CMD1P
Cardiomyopathy, Dilated 1p	Cardiomyopathy, Dilated, Type 1p

Nephrotic Syndrome, Type 2

NPHS2	Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
Srn1	Nephrotic Syndrome Type 2
Steroid-Resistant Autosomal Recessive Nephrotic Syndrome	Nephrotic Syndrome 2
Autosomal Recessive Steroid-Resistant Nephrotic Syndrome	Srn
Nephrotic Syndrome, Type 2, Susceptibility To	Idiopathic Nephrotic Syndrome

Multiple Acyl-Coa Dehydrogenase Deficiency

MADD	Ethylmalonic-Adipicaciduria
Ema	Glutaric Acidemia Iia
Glutaric Acidemia Iib	Ga Ii
Glutaric Acidemia Iic	Glutaric Acidemia Type 2
Glutaric Acidemia Ii	Glutaric Aciduria Ii
Electron Transfer Flavoprotein Deficiency	Glutaric Aciduria Type 2
Mad Deficiency	Glutaric Acidemia Type Ii
Glutaric Aciduria 2	Etfa Deficiency
Etfb Deficiency	Etfdh Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Ga2
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency	Electron Transfer Flavoprotein Dehydrogenase Deficiency
Ga 2	Glutaric Acidemia 2
Glutaric Acidemia, Type 2	Glutaric Aciduria, Type 2
Mad	Multiple Fad Dehydrogenase Deficiency
Ethylmalonic Adipic Aciduria	Glutaricaciduria Ii
Glutaric Aciduria 2a	GA2A
Gaiia	Glutaricaciduria Iia
Glutaric Aciduria 2b	GA2B
Gaiib	Glutaricaciduria Iib
Glutaric Aciduria 2c	GA2C
Gaiic	Glutaricaciduria Iic
Glutaricaciduria, Type Iia	Glutaric Acidemia Type 2a
Glutaric Acidemia Type 2c	Glutaric Aciduria Iia
Glutaric Aciduria Iib	Glutaric Aciduria Iic

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome	Cfc Syndrome
Cardio-Facio-Cutaneous Syndrome	CFC1
Cfcs	Cardio-Facial-Cutaneous Syndrome
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure	Cardiofaciocutaneous Syndrome, Type 1

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10293	PDSS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PDSS1	MGD	MGI:1889278
Rattus norvegicus	PDSS1	RGD	RGD:2319976
Bos taurus	PDSS1	VGNC	VGNC:32719
Canis familiaris	PDSS1	VGNC	VGNC:44394
Felis catus	PDSS1	VGNC	VGNC:64099
Macaca mulatta	PDSS1	VGNC	VGNC:75821

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