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  2. ISYNA1 - inositol-3-phosphate synthase 1 Gene

ISYNA1 - inositol-3-phosphate synthase 1 Gene

中文名称:肌醇 3 磷酸合酶 1

种属: Homo sapiens

同用名: IPS; INO1; INOS; IPS 1; IPS-1

基因 ID: 51477 | 基因类型: protein coding

关于 ISYNA1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,434,388-18,438,133 (from NCBI)

This gene has 14 transcripts (splice variants) and 208 orthologues. Broad expression in testis (RPKM 72.6), placenta (RPKM 57.0) and 14 other tissues.

功能概要

该基因编码肌醇-3-磷酸合成酶。编码的蛋白质通过催化葡萄糖 6-磷酸向肌醇 1-磷酸的限速转化,在肌醇生物合成途径中发挥关键作用。已观察到该基因编码多种亚型的选择性剪接转录变体,该基因的假基因位于 4 号染色体的短臂上。[RefSeq 提供,2011 年 11 月]

This gene encodes an inositol-3-phosphate synthase Enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]

ISYNA1 基因产物(3)

mRNA Protein Name
NM_001170938.2 NP_001164409.1 inositol-3-phosphate synthase 1 isoform 2
NM_001253389.2 NP_001240318.1 inositol-3-phosphate synthase 1 isoform 4
NM_016368.5 NP_057452.1 inositol-3-phosphate synthase 1 isoform 1
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 inositol-3-phosphate synthase activity IGI
IGI: 通过遗传相互作用推断
23902760 GOA
enables inositol-3-phosphate synthase activity IMP
IMP: 通过突变表型推断
23902760 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21044950 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in inositol biosynthetic process IGI
IGI: 通过遗传相互作用推断
23902760 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

ISYNA1 蛋白结构

NAD_binding_5

NAD_binding_5: Myo-inositol-1-phosphate synthase (59 - 491)

Inos-1-P_synth

Inos-1-P_synth: Myo-inositol-1-phosphate synthase (307 - 420)

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

inositol-3-phosphate synthase 1

MI-1-P synthase

ISYNA1 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
Intra ISYNA1 Q9NPH2 TRAF4 Homo sapiens Q9BUZ4
Y2H Bait-Prey Pool
25910212
Intra ISYNA1 Q9NPH2 TRAF4 Homo sapiens Q9BUZ4
Validated Y2H
25910212
Intra ISYNA1 Q9NPH2 TRAF4 Homo sapiens Q9BUZ4
Y2H Array
25910212
Intra ISYNA1 Q9NPH2 TRAF4 Homo sapiens Q9BUZ4
Validated Y2H
25416956
Intra ISYNA1 Q9NPH2 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
Intra ISYNA1 Q9NPH2 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Intra ISYNA1 Q9NPH2 POT1 Homo sapiens Q9NUX5
Pull Down
21044950
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
Lidocaine Allergy

Lidoderm Allergy

Lignocaine Allergy

Xylocaine Allergy

Nemaline Myopathy 1

Cap Myopathy 1

NEM1

Nemaline Myopathy 1, Autosomal Dominant Or Recessive

Nemaline Myopathy, Type 1

CAPM1

Cap Disease

Cap Myopathy Tpm3-Related

Nemaline Myopathy 1 Autosomal Dominant Or Recessive

Myopathy, Nemaline, Type 1

Cap Myopathy

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
Macaca mulatta ISYNA1 VGNC VGNC:73685
Bos taurus ISYNA1 VGNC VGNC:30306
Canis familiaris ISYNA1 VGNC VGNC:42116
Mus musculus ISYNA1 MGD MGI:1919030
Rattus norvegicus ISYNA1 RGD RGD:1359423
Felis catus ISYNA1 VGNC VGNC:62982