INPP5D (inositol polyphosphate-5-phosphatase D)
- symbol:
- INPP5D
- locus group:
- protein-coding gene
- location:
- 2q37.1
- gene_family:
- SH2 domain containing
- alias symbol:
- SHIP|hp51CN|SHIP1
- alias name:
- SH2 domain-containing inositol 5'-…
- entrez id:
- 3635
- ensembl gene id:
- ENSG00000168918
- ucsc gene id:
- uc032ovq.2
- refseq accession:
- NM_001017915
- hgnc_id:
- HGNC:6079
- approved reserved:
- 1996-04-04
INPP5D（也称为SHIP1）是一种编码肌醇多磷酸5-磷酸酶的基因，属于INPP5家族。该基因主要在造血细胞中表达，其表达产物通过水解磷脂酰肌醇-3,4,5-三磷酸（PIP3）生成磷脂酰肌醇-3,4-二磷酸（PI(3,4)P2），从而负调控PI3K/AKT信号通路，影响细胞增殖、存活和免疫反应。INPP5D在B细胞、T细胞、巨噬细胞和肥大细胞中发挥重要作用，通过抑制过度免疫激活维持免疫稳态。突变或功能缺失可能导致免疫失调，如自身免疫疾病或炎症性疾病。INPP5D的缺失或降低表达可能增强PI3K信号通路，导致免疫细胞过度活化，增加自身免疫病或过敏反应风险；而过表达可能抑制免疫反应，增加感染易感性。INPP5D与慢性淋巴细胞白血病（CLL）和某些淋巴瘤相关，其缺失或突变可能促进肿瘤细胞存活。INPP5D属于INPP5基因家族，该家族成员均具有5-磷酸酶活性，参与肌醇磷脂代谢和细胞信号调控，但各成员的组织分布和功能特异性不同。INPP5D因其在免疫系统中的独特作用而备受关注。
This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
此基因是肌醇多磷酸-5-磷酸酶（INPP5）家族的成员，编码的蛋白质与N-末端SH2结构域，肌醇磷酸酶结构域和两个C-末端蛋白质相互作用结构域。这种蛋白质的表达被限制在那里从细胞质到质膜其运动被酪氨酸磷酸化介导的造血细胞。在质膜中，蛋白水解从磷脂酰肌醇（3,4,5）-trisphosphate和肌醇-1,3,4,5- tetrakisphosphate的5‘磷酸，从而影响多个信号通路。该蛋白也被部分地定位于细胞核，在那里它可能参与核肌醇磷酸信令进程。总体而言，该蛋白质的功能作为骨髓细胞增殖和存活的负调节剂。在这种基因突变与缺陷和免疫系统的癌症相关联。这个基因的选择性剪接的结果在多个转录变体。 [由RefSeq的，2014年2月提供]
基因本体信息
INPP5D基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
INPP5D基因的本体（GO）信息：
| 名称 |
|---|
| 562 Inositol phosphate metabolism [PATH:hsa00562] |
| 4070 Phosphatidylinositol signaling system [PATH:hsa04070] |
| 4662 B cell receptor signaling pathway [PATH:hsa04662] |
| 4664 Fc epsilon RI signaling pathway [PATH:hsa04664] |
| 4666 Fc gamma R-mediated phagocytosis [PATH:hsa04666] |
| 名称 |
|---|
| Adaptive Immune System |
| Cell surface interactions at the vascular wall |
| Cytokine Signaling in Immune system |
| Downstream TCR signaling |
| Hemostasis |
| Immune System |
| Inositol phosphate metabolism |
| Interleukin receptor SHC signaling |
| Interleukin-2 signaling |
| Interleukin-3, 5 and GM-CSF signaling |
| Metabolism |
| Metabolism of lipids and lipoproteins |
| PECAM1 interactions |
| Phospholipid metabolism |
| PI Metabolism |
| Signaling by Interleukins |
| Synthesis of IP3 and IP4 in the cytosol |
| Synthesis of PIPs at the plasma membrane |
| TCR signaling |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Alzheimer's Disease | 0.12 | 1 | 1 | GWASCAT |
| Reperfusion Injury | 0.12 | 1 | 0 | CTD_human |
| Osteitis Deformans | 0.08 | 0 | 0 | MGD |
| Chronic Periodontitis | 0.00272435 | 1 | 0 | LHGDN |
| Hepatitis C | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Leukemia, Myelocytic, Acute | 0.001357209 | 5 | 0 | BeFree |
| leukemia | 0.000814326 | 3 | 0 | BeFree |
| Myeloproliferative disease | 0.000814326 | 3 | 0 | BeFree |
| Acute leukemia | 0.000542884 | 2 | 0 | BeFree |
联系方式
山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼
电话： 0531-88819269
E-mail: product@genelibs.com
微信公众号
关注微信订阅号，实时查看信息，关注医学生物学动态。
版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2
