1. Gene
  2. PPAT - phosphoribosyl pyrophosphate amidotransferase Gene

PPAT - phosphoribosyl pyrophosphate amidotransferase Gene

中文名称:磷酸核糖焦磷酸氨基转移酶

种属: Homo sapiens

同用名: GPAT; PRAT; ATASE

基因 ID: 5471 | 基因类型: protein coding

关于 PPAT

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:56,393,362-56,435,615 (from NCBI)

This gene has 5 transcripts (splice variants) and 214 orthologues. Ubiquitous expression in testis (RPKM 6.9), lymph node (RPKM 5.0) and 25 other tissues.

功能概要

该基因编码的蛋白质是嘌呤/嘧啶磷酸核糖转移酶家族的成员。它是一种调节变构酶,催化从头嘌呤核苷酸生物合成途径的第一步。该基因和 PAICS/AIRC 基因 (一种催化该途径第六步和第七步的双功能酶) 位于 4 号染色体上,并且从基因间区域以不同方式转录。[RefSeq 提供,2011 年 3 月]

The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric Enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional Enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]

PPAT 基因产物(1)

mRNA Protein Name
NM_002703.5 NP_002694.3 amidophosphoribosyltransferase
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 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

PPAT 蛋白结构

GATase_2

GATase_2: Glutamine amidotransferases class-II (12 - 58)

GATase_2

GATase_2: Glutamine amidotransferases class-II (74 - 220)

Pribosyltran

Pribosyltran: Phosphoribosyl transferase domain (313 - 418)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 517 a.a.
蛋白主名 其他名称

amidophosphoribosyltransferase

glutamine PRPP amidotransferase

PPAT 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
PPAT Q06203 NUDT5 Homo sapiens Q9UKK9
Anti Tag CoIP
33961781
种属内
PPAT Q06203 NUDT5 Homo sapiens Q9UKK9
Anti Tag CoIP
28514442
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Phosphoribosylpyrophosphate Synthetase Superactivity

PRPS1 SUPERACTIVITY

Prpp Synthetase Superactivity

Gout, Prps-Related

Prpp Synthetase Deficiency

Prpp Synthetase Overactivity

Prs Overactivity

Prs Superactivity

Mild Phosphoribosylpyrophosphate Synthetase Superactivity

Mild Prpp Synthetase Superactivity

Mild Prps1 Superactivity

Severe Phosphoribosylpyrophosphate Synthetase Superactivity

Severe Prpp Synthetase Superactivity

Severe Prps1 Superactivity

Prps-Related Gout

Superactivity, Phosphoribosylpyrophosphate Synthetase

Subacute Leukemia
Immunodeficiency 24

Severe Combined Immunodeficiency Due To Ctps1 Deficiency

IMD24

Scid Due To Ctps1 Deficiency

Immunodeficiency, Type 24

Hyperuricemia, Hprt-Related

Hprt-Related Gout

Kelley-Seegmiller Syndrome

Hprt Deficiency, Partial

HRH

Gout, Hprt-Related

Hprt1 Deficiency, Partial

Hrpt-Related Hyperuricemia

Hprt Deficiency, Grade I

Hprt Partial Deficiency

Hprt-Related Hyperuricemia

Hprt1 Partial Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I

Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial

Hyperuricemia, Hrpt-Related

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

LNS

Hprt Deficiency

Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

X-Linked Hyperuricemia

Choreoathetosis Self-Mutilation Syndrome

Hprt1 Deficiency

Hprt Deficiency, Complete

Deficiency Of Imp Pyrophosphorylase

Hgprt Deficiency

Lesch-Nyhan Disease

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

Hg-Prt Deficiency

Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

Lesch - Nyhan Syndrome

Hprt1 Disorders

Lesch Nyhan Syndrome

Complete Hprt Deficiency Complete

Lesch Nyhan Disease

Complete Hprt Deficiency

Deficiency Of Guanine Phosphoribosyltransferase

Deficiency Of Hypoxanthine Phosphoribosyltransferase

Hypoxanthine Phosphoribosyltransferase Deficiency

Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

Juvenile Hyperuricemia Syndrome

Lnd

Primary Hyperuricemia Syndrome

Total Hprt Deficiency

Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

X-Linked Primary Hyperuricemia

X-Linked Uric Aciduria Enzyme Defect

Hprt Complete Deficiency

Hprt Deficiency Grade Iv

Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

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 PPAT MGD MGI:2387203
Macaca mulatta PPAT VGNC VGNC:76231
Rattus norvegicus PPAT RGD RGD:620237
Bos taurus PPAT VGNC VGNC:33186
Felis catus PPAT VGNC VGNC:68979
Canis familiaris PPAT VGNC VGNC:44839
Others PPAT NCBI