1. Gene
  2. PDSS1 - decaprenyl diphosphate synthase subunit 1 Gene

PDSS1 - decaprenyl diphosphate synthase subunit 1 Gene

中文名称:癸烯二磷酸合酶亚基 1

种属: Homo sapiens

同用名: DPS; SPS; TPT; COQ1; TPRT; COQ1A; TPT 1; hDPS1; COQ10D2

基因 ID: 23590 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是一种酶,可延长辅酶 Q 或泛醌的异戊二烯侧链,泛醌是呼吸链中的关键元素之一。该基因产物在聚异戊二烯侧链组装过程中催化异戊二磷酸生成所有反式聚异戊二烯焦磷酸,这是辅酶 Q 生物合成的第一步。该蛋白质可能与线粒体内膜外周相关,但迄今为止尚未明确确定转运肽。该基因的缺陷是辅酶 Q10 缺乏的原因。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to all-trans-decaprenyl-diphosphate synthase activity IDA
IDA: 通过直接分析推断
16262699 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16262699 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in isoprenoid biosynthetic process IDA
IDA: 通过直接分析推断
16262699 GOA
involved in ubiquinone biosynthetic process IDA
IDA: 通过直接分析推断
16262699 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of heterotetrameric polyprenyl diphosphate synthase complex IDA
IDA: 通过直接分析推断
16262699 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PDSS1 蛋白结构

polyprenyl_synt

polyprenyl_synt: Polyprenyl synthetase (121 - 370)

  • 0
  • 100
  • 200
  • 300
  • 415 a.a.
蛋白主名 其他名称

all trans-polyprenyl-diphosphate synthase PDSS1

all-trans-decaprenyl-diphosphate synthase subunit 1

PDSS1 抗体

目录号 产品名 应用 反应物种
HY-P82976 DPS1 Antibody (YA2721) WB, IP Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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