2. Gene
  3. GART - phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Gene

GART - phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Gene

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

中文名称：磷酸核糖甘氨酰胺甲酰基转移酶、磷酸核糖甘氨酰胺合成酶、磷酸核糖氨基咪唑合成酶

种属: Homo sapiens

同用名: AIRS; GARS; PAIS; PGFT; PRGS; GARTF

基因 ID: 2618 | 基因类型: protein coding

关于 GART

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:33,503,931-33,542,893 (from NCBI)

This gene has 18 transcripts (splice variants), 1 gene allele and 238 orthologues. Ubiquitous expression in testis (RPKM 13.5), lymph node (RPKM 11.6) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种三功能多肽。它具有磷酸核糖甘氨酰胺甲酰基转移酶、磷酸核糖甘氨酰胺合成酶、磷酸核糖氨基咪唑合成酶活性，这是嘌呤从头生物合成所必需的。这种酶在脊椎动物中高度保守。该基因的可变剪接导致编码不同亚型的两个转录变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GART 基因产物(4)

mRNA Protein Name
NM_000819.5 NP_000810.1 trifunctional purine biosynthetic protein adenosine-3 isoform 1
NM_001136005.1 NP_001129477.1 trifunctional purine biosynthetic protein adenosine-3 isoform 1
NM_001136006.1 NP_001129478.1 trifunctional purine biosynthetic protein adenosine-3 isoform 1
NM_175085.3 NP_780294.1 trifunctional purine biosynthetic protein adenosine-3 isoform 2
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
enables phosphoribosylformylglycinamidine cyclo-ligase activity IDA
IDA: 通过直接分析推断
2183217 GOA
enables phosphoribosylglycinamide formyltransferase activity IDA
IDA: 通过直接分析推断
2183217 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
2183217 GOA
involved in 'de novo' IMP biosynthetic process IDA
IDA: 通过直接分析推断
2183217 GOA
involved in 'de novo' XMP biosynthetic process IDA
IDA: 通过直接分析推断
2183217 GOA
involved in GMP biosynthetic process IDA
IDA: 通过直接分析推断
2183217 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cytosol IDA
IDA: 通过直接分析推断
2183217 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

GART 蛋白结构

GARS_N

GARS_N: Phosphoribosylglycinamide synthetase, N domain (4 - 104)

GARS_A

GARS_A: Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (105 - 298)

GARS_C

GARS_C: Phosphoribosylglycinamide synthetase, C domain (334 - 425)

AIRS

AIRS: AIR synthase related protein, N-terminal domain (471 - 571)

AIRS_C

AIRS_C: AIR synthase related protein, C-terminal domain (607 - 776)

Formyl_trans_N

Formyl_trans_N: Formyl transferase (809 - 988)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1010 a.a.
蛋白主名 其他名称

trifunctional purine biosynthetic protein adenosine-3

GAR transformylase

关联疾病

疾病名称 别名
Tracheoesophageal Fistula With Or Without Esophageal Atresia

Esophageal Atresia With Or Without Tracheoesophageal Fistula

Esophageal Atresia
Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia
Nondisjunction

Mosaicism, Chromosomal

Mixoploidy, Familial
Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21
Cystoisosporiasis

Isosporiasis

Infection By Isospora Belli And Isospora Hominis

Isosporosis

Infection By Isospora Belli Or Isospora Hominis

Isospora Belli Or Hominis Infection

Coccidial Infestation

Coccidiosis

Coccidial Dysentery

Intestinal Coccidiosis Nos
Lung Non-Squamous Non-Small Cell Carcinoma

Non- Squamous Nsclc
Neuroaspergillosis
Pleural Cancer

Pleural Neoplasms

Neoplasm Of Pleura

Pleural Tumor

Malignant Tumor Of Pleura

Pleural Cavity Cancer

Primary Malignant Neoplasm Of Parietal Pleura

Primary Malignant Neoplasm Of Pleura

Primary Malignant Neoplasm Of Visceral Pleura
Folate Malabsorption, Hereditary

Hereditary Folate Malabsorption

Congenital Defect Of Folate Absorption

Congenital Folate Malabsorption

Folic Acid Transport Defect

HFM
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05280 GART Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS18934 Gart Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25424 Gart Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GART RGD RGD:1308717
Macaca mulatta GART VGNC VGNC:72882
Mus musculus GART MGD MGI:95654
Felis catus GART VGNC VGNC:62466
Bos taurus GART VGNC VGNC:29255
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