NTRK1 (neurotrophic receptor tyrosine kinase 1)
- symbol:
- NTRK1
- locus group:
- protein-coding gene
- location:
- 1q23.1
- gene_family:
- Receptor Tyrosine Kinases|Immunoglobulin-like domain containing
- alias symbol:
- TRK|TRKA|MTC
- alias name:
- high affinity nerve growth factor …
- entrez id:
- 4914
- ensembl gene id:
- ENSG00000198400
- ucsc gene id:
- uc001fqh.2
- refseq accession:
- NM_002529
- hgnc_id:
- HGNC:8031
- approved reserved:
- 1991-07-18
NTRK1（神经营养性酪氨酸激酶受体1型）是一种编码原肌球蛋白受体激酶A（TrkA）的基因，属于神经营养因子受体家族（NTRK家族），该家族还包括NTRK2（TrkB）和NTRK3（TrkC）。NTRK家族成员均为跨膜受体酪氨酸激酶，通过结合神经营养因子（如神经生长因子NGF）激活下游信号通路，调控神经元的存活、分化、突触可塑性及疼痛感知。NTRK1主要在周围神经系统和中枢神经系统的特定神经元中表达，尤其在伤害性感觉神经元中起关键作用。NTRK1的功能依赖于其配体NGF的结合，激活后触发RAS-MAPK、PI3K-AKT和PLCγ等通路，促进细胞生长和抗凋亡。若NTRK1发生功能丧失性突变（如R85W、G571R），会导致先天性无痛无汗症（CIPA），表现为痛觉缺失、体温调节障碍和智力发育迟缓，因神经元发育异常及伤害性信号传导缺陷所致。相反，NTRK1的融合突变（如与TPM3或TPR基因融合）会导致激酶域持续激活，驱动多种癌症（如婴儿纤维肉瘤、肺癌）的发生，这类突变可通过靶向药物（如拉罗替尼）抑制。NTRK1过表达可能增强神经元存活并加剧疼痛敏感性，而表达降低则导致神经元凋亡或感觉功能障碍。NTRK家族共性在于均依赖神经营养因子激活，参与神经系统发育与维持，但各成员配体特异性不同（NTRK1结合NGF，NTRK2结合BDNF/NT-4，NTRK3结合NT-3）。此外，NTRK基因的融合突变是跨癌种的致癌驱动因素，使其成为精准治疗的重要靶点。
This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
该基因编码的神经营养酪氨酸激酶受体（NTKR）家族中的一员。这种激酶是一种膜结合受体的是，在神经营养蛋白结合，磷酸化自身和MAPK途径的成员。这种激酶的存在导致细胞分化和在指定感觉神经元亚型可以发挥作用。在这种基因突变与先天性对疼痛不敏感，无汗，自残行为，精神发育迟缓和癌症相关联。该基因的备选的转录剪接变体已被发现，但只有三个已被表征为最新。 [由RefSeq的，2008年7月提供]
基因本体信息
NTRK1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
NTRK1基因的本体（GO）信息：
| 名称 |
|---|
| 4010 MAPK signaling pathway [PATH:hsa04010] |
| 4144 Endocytosis [PATH:hsa04144] |
| 4210 Apoptosis [PATH:hsa04210] |
| 4722 Neurotrophin signaling pathway [PATH:hsa04722] |
| 4750 Inflammatory mediator regulation of TRP channels [PATH:hsa04750] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5230 Central carbon metabolism in cancer [PATH:hsa05230] |
| 5202 Transcriptional misregulation in cancers [PATH:hsa05202] |
| 5216 Thyroid cancer [PATH:hsa05216] |
| 名称 |
|---|
| Activation of TRKA receptors |
| ARMS-mediated activation |
| Frs2-mediated activation |
| NGF signalling via TRKA from the plasma membrane |
| NGF-independant TRKA activation |
| PI3K/AKT activation |
| PLC-gamma1 signalling |
| Prolonged ERK activation events |
| Retrograde neurotrophin signalling |
| Signalling by NGF |
| Signalling to ERKs |
| Signalling to p38 via RIT and RIN |
| Signalling to RAS |
| Signalling to STAT3 |
| TRKA activation by NGF |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| HSAN Type IV | 0.450314791 | 41 | 17 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
| Familial medullary thyroid carcinoma | 0.361628651 | 6 | 7 | BeFree_CLINVAR_CTD_human_ORPHANET |
| Neuroblastoma | 0.137034825 | 45 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Papillary thyroid carcinoma | 0.126243163 | 23 | 1 | BeFree_ORPHANET |
| Hereditary Sensory and Autonomic Neuropathies | 0.125091382 | 2 | 0 | CTD_human_GAD_LHGDN |
| Glioma | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Schizophrenia | 0.121085767 | 5 | 0 | BeFree_CTD_human |
| Congenital Pain Insensitivity | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
| Hereditary Sensory Autonomic Neuropathy, Type 5 | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
| Psychotic Disorders | 0.12 | 1 | 0 | CTD_human |
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