2. Gene
  3. CTPS1 - CTP synthase 1 Gene

CTPS1 - CTP synthase 1 Gene

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

中文名称：CTP 合成酶 1

种属: Homo sapiens

同用名: CTPS; GATD5; IMD24; GATD5A

基因 ID: 1503 | 基因类型: protein coding

关于 CTPS1

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:40,979,696-41,012,565 (from NCBI)

This gene has 24 transcripts (splice variants), 274 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 10.6), testis (RPKM 9.2) and 24 other tissues.

功能概要

该基因编码一种酶，负责将 UTP (三磷酸尿苷) 催化转化为 CTP (三磷酸胞苷) 。该反应是磷脂和核酸生物合成的重要步骤。这种蛋白质的活性在免疫系统中很重要，这种基因功能的丧失与免疫缺陷有关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

This gene encodes an Enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of Phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CTPS1 基因产物(2)

mRNA Protein Name
NM_001301237.2 NP_001288166.1 CTP synthase 1 isoform b
NM_001905.4 NP_001896.2 CTP synthase 1 isoform a
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 CTP synthase activity IDA
IDA: 通过直接分析推断
16179339 GOA
enables CTP synthase activity IGI
IGI: 通过遗传相互作用推断
16179339 GOA
enables CTP synthase activity IMP
IMP: 通过突变表型推断
24870241 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in B cell proliferation IMP
IMP: 通过突变表型推断
24870241 GOA
involved in CTP biosynthetic process IDA
IDA: 通过直接分析推断
16179339 GOA
involved in CTP biosynthetic process IMP
IMP: 通过突变表型推断
24870241 GOA
involved in T cell proliferation IMP
IMP: 通过突变表型推断
24870241 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoophidium IDA
IDA: 通过直接分析推断
25223282 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

CTPS1 蛋白结构

CTP_synth_N

CTP_synth_N: CTP synthase N-terminus (1 - 276)

GATase

GATase: Glutamine amidotransferase class-I (311 - 542)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 591 a.a.
蛋白主名 其他名称

CTP synthase 1

CTP synthetase 1

关联疾病

疾病名称 别名
Immunodeficiency 24

Severe Combined Immunodeficiency Due To Ctps1 Deficiency

IMD24

Scid Due To Ctps1 Deficiency

Immunodeficiency, Type 24
Nemaline Myopathy 7

NEM7

Nemaline Myopathy 7, Autosomal Recessive

Cfl2-Related Nemaline Myopathy

Myopathy, Nemaline, Type 7
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

XMEN

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

Cid Due To Magt1 Deficiency

Combined Immunodeficiency Due To Magt1 Deficiency

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An

X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia
Lymphoproliferative Syndrome 2

Cd27 Deficiency

LPFS2

Combined Immunodeficiency Due To Cd27 Deficiency

Autosomal Recessive Lymphoproliferative Disease Due To Cd27 Deficiency
Middle Lobe Syndrome
Lymphoproliferative Syndrome, X-Linked, 1

Lymphomatoid Papulosis

Duncan Disease

Purtilo Syndrome

X-Linked Lymphoproliferative Syndrome

Xlp

X-Linked Lymphoproliferative Disease

XLP1

Lyp

Lymphoproliferative Disease, X-Linked

Xlpd

X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency

Ebv Infection, Severe, Susceptibility To

Ebvs

Immunodeficiency 5

Imd5

X-Linked Lymphoproliferative Syndrome 1

Epstein-Barr Virus Infection, Familial Fatal

Ebv Infection, Severe

Infectious Mononucleosis, Severe

Infectious Mononucleosis, Severe, Susceptibility To

Immunodeficiency, X-Linked Progressive Combined Variable

Epstein Barr Virus Infection, Familial Fatal

X-Linked Progressive Combined Variable Immunodeficiency 5

Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males

Familial Fatal Epstein-Barr Infection

Severe Susceptibility To Ebv Infection

Severe Susceptibility To Infectious Mononucleosis

Sap Deficiency

Sh2d1a/Slam-Associated Protein Deficiency

X-Linked Lymphoproliferative Syndrome Type 1

X-Linked Progressive Combined Variable Immunodeficiency

Lymphoproliferative Syndrome, X-Linked

Sap

X-Linked Lymphoproliferative Disorder
Ras-Associated Autoimmune Leukoproliferative Disorder

RALD

Autoimmune Lymphoproliferative Syndrome Type 4

Alps4

Autoimmune Lymphoproliferative Syndrome, Type Iv

Ras-Associated Autoimmune Leukoproliferative Disease

Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic

Alps Type 4

Alps Type Iv

Autoimmune Lymphoproliferative Syndrome Type Iv

Autoimmune Lymphoproliferative Syndrome 4
Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia
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 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-152149 CTP Synthetase-IN-1 Inhibitor 99.56% 否
HY-157746 CTPS1-IN-1 Inhibitor 97.06% 否
HY-157783 CTPS1-IN-2 Inhibitor / 否
HY-RS03314 CTPS1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-137619 Sp-dCTPαS / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CTPS1 RGD RGD:1311060
Mus musculus CTPS1 MGD MGI:1858304
Canis familiaris CTPS1 VGNC VGNC:39704
Felis catus CTPS1 VGNC VGNC:61260
Macaca mulatta CTPS1 VGNC VGNC:71549
Bos taurus CTPS1 VGNC VGNC:27808
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