PDSS1 - decaprenyl diphosphate synthase subunit 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23590

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	References	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	References	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	References	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
HY-P82976A	DPS1 Antibody (YA2721)(PBS only)	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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10293	PDSS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22714	Pdss1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29228	Pdss1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	PDSS1	NCBI