1. Gene
  2. PPCS - phosphopantothenoylcysteine synthetase Gene

PPCS - phosphopantothenoylcysteine synthetase Gene

中文名称:磷酸泛酰半胱氨酸合成酶

种属: Homo sapiens

同用名: CMD2C

基因 ID: 79717 | 基因类型: protein coding

关于 PPCS

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:42,456,341-42,473,417 (from NCBI)

This gene has 8 transcripts (splice variants), 193 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 13.6), thyroid (RPKM 13.4) and 25 other tissues.

功能概要

从泛酸 (维生素 B5) 生物合成辅酶 A (CoA) 是原核生物和真核生物中必不可少的通用途径。 PPCS (EC 6.3.2.5) ,该途径中最后一种酶,将磷酸泛酸转化为磷酸泛酰半胱氨酸 (Daugherty 等人,2002 [PubMed 11923312]) 。[OMIM 提供,2008 年 3 月]

Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last Enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]

PPCS 基因产物(8)

mRNA Protein Name
NM_001077447.3 NP_001070915.1 phosphopantothenate--cysteine ligase isoform b
NM_001287506.1 NP_001274435.1 phosphopantothenate--cysteine ligase isoform b
NM_001287507.1 NP_001274436.1 phosphopantothenate--cysteine ligase isoform c
NM_001287508.2 NP_001274437.1 phosphopantothenate--cysteine ligase isoform b
NM_001287509.2 NP_001274438.1 phosphopantothenate--cysteine ligase isoform b
NM_001287510.2 NP_001274439.1 phosphopantothenate--cysteine ligase isoform b
NM_001287511.2 NP_001274440.1 phosphopantothenate--cysteine ligase isoform d
NM_024664.4 NP_078940.2 phosphopantothenate--cysteine ligase isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables phosphopantothenate--cysteine ligase activity IDA
IDA: 通过直接分析推断
11923312 GOA
enables phosphopantothenate--cysteine ligase activity IMP
IMP: 通过突变表型推断
29754768 GOA
enables protein homodimerization activity IMP
IMP: 通过突变表型推断
29754768 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in acetyl-CoA biosynthetic process IMP
IMP: 通过突变表型推断
29754768 GOA
involved in coenzyme A biosynthetic process IDA
IDA: 通过直接分析推断
11923312 GOA
involved in coenzyme A biosynthetic process IMP
IMP: 通过突变表型推断
29754768 GOA
involved in heart process IMP
IMP: 通过突变表型推断
29754768 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

PPCS 蛋白结构

DFP

DFP: DNA / pantothenate metabolism flavoprotein (36 - 83)

DFP

DFP: DNA / pantothenate metabolism flavoprotein (158 - 264)

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

phosphopantothenate--cysteine ligase

PPC synthetase

PPCS 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PPCS Q9HAB8 PDZRN3 Homo sapiens Q9UPQ7 33961781
种属内
PPCS Q9HAB8 LACRT Homo sapiens Q9GZZ8 33961781
种属内
PPCS Q9HAB8 SCGB2A1 Homo sapiens O75556 33961781
种属内
PPCS Q9HAB8 BPIFB1 Homo sapiens Q8TDL5 33961781
种属内
PPCS Q9HAB8 HP Homo sapiens P00738 33961781
种属内
PPCS Q9HAB8 LTF Homo sapiens P02788 33961781
种属内
PPCS Q9HAB8 DMBT1 Homo sapiens Q9UGM3 33961781
种属内
PPCS Q9HAB8 PPCS Homo sapiens Q9HAB8 32296183
种属内
PPCS Q9HAB8 a0a6l8p747_bacan Bacillus anthracis A0A6L8P747 20711500
种属内
PPCS Q9HAB8 PPCS Homo sapiens Q9HAB8 32296183
种属内
PPCS Q9HAB8 PPCS Homo sapiens Q9HAB8 32296183
种属内
PPCS Q9HAB8 IGHA2 Homo sapiens P01877 33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

PPCS 抗体

目录号 产品名 应用 反应物种
HY-P83432 PPCS Antibody (YA3177) WB, IP Human

关联疾病

疾病名称 别名
Cardiomyopathy, Dilated, 2c

CMD2C

Dilated Cardiomyopathy 2c

Cardiomyopathy, Dilated 2c

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Bladder Tuberculosis

Tuberculous Cystitis

Tuberculosis Of Bladder

Periosteal Chondrosarcoma

Juxtacortical Chondrosarcoma

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Urethral Calculus

Calculus In Urethra

Urethral Stone

Urethrolithiasis

Urethra Calculi Impaction

Urethra Calculus Impaction

Urethra Stone

Calculous Urethritis

Urethral Calculi Impaction

Urethral Calculus Impaction

Neurodegeneration With Brain Iron Accumulation 1

Pantothenate Kinase-Associated Neurodegeneration

Pkan

NBIA1

Hallervorden-Spatz Disease

Hallervorden-Spatz Syndrome

Pigmentary Pallidal Degeneration

Neuroaxonal Dystrophy, Late Infantile

Neurodegeneration With Brain Iron Accumulation Type 1

Classic Pantothenate Kinase-Associated Neurodegeneration

Pkan Neuroaxonal Dystrophy, Juvenile-Onset

Brain Iron Accumulation Type I Syndrome

Nbia

Neurodegeneration With Brain Iron Accumulation

Nbia1, Classic Form

Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form

Pkan, Classic Form

Atypical Pantothenate Kinase-Associated Neurodegeneration

Nbia1, Atypical Form

Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form

Pkan, Atypical Form

Hss

Pkan Neuroaxonal Dystrophy Juvenile-Onset

Neurodegeneration, With Brain Iron Accumulation, Type 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 PPCS MGD MGI:1915237
Bos taurus PPCS VGNC VGNC:33189
Felis catus PPCS VGNC VGNC:64307
Canis familiaris PPCS VGNC VGNC:44841
Rattus norvegicus PPCS RGD RGD:1311399
Macaca mulatta PPCS VGNC VGNC:76112