CALML5 (calmodulin like 5)
- symbol:
- CALML5
- locus group:
- protein-coding gene
- location:
- 10p15.1
- gene_family:
- EF-hand domain containing
- alias symbol:
- CLSP
- alias name:
- calmodulin-like skin protein
- entrez id:
- 51806
- ensembl gene id:
- ENSG00000178372
- ucsc gene id:
- uc001iic.3
- refseq accession:
- NM_017422
- hgnc_id:
- HGNC:18180
- approved reserved:
- 2003-11-10
CALML5（Calmodulin Like 5）属于钙调蛋白（Calmodulin, CaM）基因家族，该家族成员以钙离子结合蛋白为特征，参与细胞内钙信号传导。CALML5主要在皮肤表皮中表达，尤其在角质形成细胞中高度特异，其表达产物是一种小分子钙结合蛋白，通过与钙离子结合调节细胞分化、增殖和皮肤屏障功能。CALML5在角质形成细胞终末分化过程中起关键作用，促进角化包膜的形成，从而维持皮肤屏障完整性。该基因突变可能导致皮肤屏障功能受损，与某些皮肤病如鱼鳞病或特应性皮炎相关。若CALML5过表达，可能加速角质形成细胞分化，导致皮肤过度角化；而降低表达则可能延缓分化，削弱皮肤屏障功能。CALML5与家族其他成员（如CALM1-3）共享EF-hand钙结合结构域，但组织分布和功能更专一。研究表明，CALML5可能通过调控下游靶蛋白（如转谷氨酰胺酶）影响角质化过程，其表达异常还可能干扰其他钙依赖性信号通路，进而影响皮肤炎症或修复反应。
This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. [provided by RefSeq, Jul 2008]
该基因编码在表皮表达和相关的钙调蛋白家族钙结合蛋白的一种新颖的钙结合蛋白。用重组蛋白的功能性研究表明它结合钙和当它这样做经历构象变化。丰富的表情只检测在重建表皮，并仅限于差异化的角质形成细胞。此外，它可以与转谷氨酰胺3相关联，显示出在角质形成细胞的终末分化的关键酶。 [省由RefSeq的，2008年7月被提供的]
基因本体信息
CALML5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
CALML5基因的本体（GO）信息：
| 名称 |
|---|
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4070 Phosphatidylinositol signaling system [PATH:hsa04070] |
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4022 cGMP - PKG signaling pathway [PATH:hsa04022] |
| 4114 Oocyte meiosis [PATH:hsa04114] |
| 4910 Insulin signaling pathway [PATH:hsa04910] |
| 4922 Glucagon signaling pathway [PATH:hsa04922] |
| 4912 GnRH signaling pathway [PATH:hsa04912] |
| 4915 Estrogen signaling pathway [PATH:hsa04915] |
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4916 Melanogenesis [PATH:hsa04916] |
| 4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
| 4270 Vascular smooth muscle contraction [PATH:hsa04270] |
| 4970 Salivary secretion [PATH:hsa04970] |
| 4971 Gastric acid secretion [PATH:hsa04971] |
| 4728 Dopaminergic synapse [PATH:hsa04728] |
| 4720 Long-term potentiation [PATH:hsa04720] |
| 4722 Neurotrophin signaling pathway [PATH:hsa04722] |
| 4744 Phototransduction [PATH:hsa04744] |
| 4740 Olfactory transduction [PATH:hsa04740] |
| 4750 Inflammatory mediator regulation of TRP channels [PATH:hsa04750] |
| 4713 Circadian entrainment [PATH:hsa04713] |
| 5214 Glioma [PATH:hsa05214] |
| 5010 Alzheimer's disease [PATH:hsa05010] |
| 5031 Amphetamine addiction [PATH:hsa05031] |
| 5034 Alcoholism [PATH:hsa05034] |
| 5133 Pertussis [PATH:hsa05133] |
| 5152 Tuberculosis [PATH:hsa05152] |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Dermatologic disorders | 0.000271442 | 1 | 0 | BeFree |
| Psoriasis | 0.000271442 | 1 | 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
