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  3. PFAS - phosphoribosylformylglycinamidine synthase Gene

PFAS - phosphoribosylformylglycinamidine synthase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷酸核糖甲酰甘氨脒合酶

种属: Homo sapiens

同用名: PURL; FGAMS; GATD8; FGARAT; FGAR-AT

基因 ID: 5198 | 基因类型: protein coding

关于 PFAS

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,247,608-8,270,486 (from NCBI)

This gene has 12 transcripts (splice variants) and 193 orthologues. Ubiquitous expression in lymph node (RPKM 4.9), appendix (RPKM 4.3) and 25 other tissues.

功能概要

嘌呤是许多细胞过程所必需的，包括 DNA 复制、转录和能量代谢。在嘌呤生物合成的从头途径中合成肌苷一磷酸 (IMP) 需要十个酶促步骤。该基因编码的酶催化 IMP 生物合成的第四步。[RefSeq 提供，2008 年 7 月]

Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The Enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]

PFAS 基因产物(1)

mRNA Protein Name
NM_012393.3 NP_036525.1 phosphoribosylformylglycinamidine synthase
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 phosphoribosylformylglycinamidine synthase activity IDA
IDA: 通过直接分析推断
10548741 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in 'de novo' AMP biosynthetic process IDA
IDA: 通过直接分析推断
27590927 GOA
involved in 'de novo' IMP biosynthetic process IDA
IDA: 通过直接分析推断
27590927 GOA
involved in 'de novo' XMP biosynthetic process IDA
IDA: 通过直接分析推断
27590927 GOA
involved in GMP biosynthetic process IDA
IDA: 通过直接分析推断
27590927 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

PFAS 蛋白结构

AIRS

AIRS: AIR synthase related protein, N-terminal domain (271 - 404)

AIRS_C

AIRS_C: AIR synthase related protein, C-terminal domain (445 - 600)

AIRS_C

AIRS_C: AIR synthase related protein, C-terminal domain (851 - 986)

GATase_5

GATase_5: CobB/CobQ-like glutamine amidotransferase domain (1063 - 1333)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1338 a.a.
蛋白主名 其他名称

phosphoribosylformylglycinamidine synthase

FGAM synthase

关联疾病

疾病名称 别名
Cerebroretinal Microangiopathy With Calcifications And Cysts 1

Coats Plus Syndrome

Cerebroretinal Microangiopathy With Calcifications And Cysts

Crmcc

CRMCC1

Microangiopathy, Cerebroretinal, With Calcifications And Cysts

Cerebral Small Vessel Diseases
Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome
Vulvar Keratoacanthoma-Like Carcinoma
Partial Fetal Alcohol Syndrome
Choriocarcinoma Of Ovary

Ovarian Choriocarcinoma
Alcohol-Related Birth Defects

Arbd

Alcohol-Related Birth Defect

Alcohol Related Birth Defect

Fetal Alcohol Syndrome
Dystonia 16

DYT16

Dyt-Prkra

Dystonia-16

Young-Onset Dystonia-

Early-Onset Dystonia Parkinsonism

Dystonia, Type 16
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

相关产品

Pre-clinical Phase
生物活性分子 (12)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-W792491 Perfluoropropanesulfonic acid ≥99.0% 否
HY-W002199 6:2 Fluorotelomer alcohol 99.70% 否
HY-W269593 Perfluorodecanoic acid Inhibitor / 否
HY-21200 Perfluoroheptanesulfonic acid / 否
HY-RS10357 PFAS Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-115701 1-Stearoyl-2-15(S)-Hpete-Sn-Glycero-3-Pe / 否
HY-21197 Perfluoroenanthic acid / 否
HY-W275295 Perfluorododecanoic acid Activator / 否
HY-W587839 4,8-Dioxa-3H-perfluorononanoic acid Agonist / 否
HY-W591838 Perfluoropentanesulfonic acid / 否
HY-W674169 Perfluorobutanesulfonamide / 否
HY-W679758 1H,1H,2H,2H-Perfluorodecanesulfonic acid / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus PFAS VGNC VGNC:68800
Canis familiaris PFAS VGNC VGNC:44439
Macaca mulatta PFAS VGNC VGNC:75955
Mus musculus PFAS MGD MGI:2684864
Bos taurus PFAS VGNC VGNC:32765
Rattus norvegicus PFAS RGD RGD:1304926
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