2. Gene
  3. ITPK1 - inositol-tetrakisphosphate 1-kinase Gene

ITPK1 - inositol-tetrakisphosphate 1-kinase Gene

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

中文名称：肌醇四磷酸 1 激酶

种属: Homo sapiens

同用名: ITRPK1

基因 ID: 3705 | 基因类型: protein coding

关于 ITPK1

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:92,936,914-93,115,925 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele and 223 orthologues. Ubiquitous expression in brain (RPKM 29.9), fat (RPKM 26.2) and 25 other tissues.

功能概要

该基因编码属于肌醇 1,3,4-三磷酸 5/6-激酶家族的酶。这种酶调节肌醇四磷酸和下游产物肌醇五磷酸和肌醇六磷酸的合成。肌醇代谢在神经管的发育中发挥作用。该基因的破坏被认为与神经管缺陷有关。已在 X 染色体上鉴定出该基因的假基因。[RefSeq 提供，2016 年 7 月]

This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]

ITPK1 基因产物(4)

mRNA Protein Name
NM_001142593.3 NP_001136065.1 inositol-tetrakisphosphate 1-kinase isoform a
NM_001142594.3 NP_001136066.1 inositol-tetrakisphosphate 1-kinase isoform b
NM_001363707.2 NP_001350636.1 inositol-tetrakisphosphate 1-kinase isoform c
NM_014216.6 NP_055031.2 inositol-tetrakisphosphate 1-kinase isoform a
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-1,3,4,5-tetrakisphosphate 6-kinase activity IMP
IMP: 通过突变表型推断
29883610 GOA
enables inositol-1,3,4-trisphosphate 5-kinase activity EXP
EXP: 通过实验结果推断
11042108 GOA
enables inositol-1,3,4-trisphosphate 6-kinase activity EXP
EXP: 通过实验结果推断
11042108 GOA
enables inositol-3,4,5,6-tetrakisphosphate 1-kinase activity EXP
EXP: 通过实验结果推断
8662638 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 necroptotic process IMP
IMP: 通过突变表型推断
29883610 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

ITPK1 蛋白结构

Ins134_P3_kin

Ins134_P3_kin: Inositol 1, 3, 4-trisphosphate 5/6-kinase (1 - 317)

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

inositol-tetrakisphosphate 1-kinase

inositol 1,3,4-trisphosphate 5/6-kinase

ITPK1 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
ITPK1 Q13572 CRYZL1 Homo sapiens O95825
Anti Tag CoIP
33961781
种属内
ITPK1 Q13572 CRYZL1 Homo sapiens O95825
Anti Tag CoIP
28514442
种属间: 跨种属相互作用 种属内: 同种属相互作用

ITPK1 抗体

目录号 产品名 应用 反应物种
HY-P83380 ITPK1 Antibody (YA3125) WB, IP Human

关联疾病

疾病名称 别名
Cerebral Falx Meningioma

Falcine Meningioma

Falx Cerebri Meningioma
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Anterior Cranial Fossa Meningioma

Meningioma Of The Anterior Fossa
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06987 ITPK1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus ITPK1 VGNC VGNC:30343
Rattus norvegicus ITPK1 RGD RGD:1595691
Macaca mulatta ITPK1 VGNC VGNC:73802
Mus musculus ITPK1 MGD MGI:2446159
Felis catus ITPK1 VGNC VGNC:80946
Canis familiaris ITPK1 VGNC VGNC:42153
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