SDC1 (syndecan 1)
- symbol:
- SDC1
- locus group:
- protein-coding gene
- location:
- 2p24.1
- gene_family:
- CD molecules|Syndecans
- alias symbol:
- CD138|syndecan|SYND1
- alias name:
- syndecan proteoglycan 1
- entrez id:
- 6382
- ensembl gene id:
- ENSG00000115884
- ucsc gene id:
- uc002rdp.2
- refseq accession:
- NM_001006946
- hgnc_id:
- HGNC:10658
- approved reserved:
- 1991-03-18
SDC1（Syndecan-1）是一种跨膜蛋白多糖，属于Syndecan基因家族（包含SDC1-4四个成员），该家族共性是通过其核心蛋白与硫酸乙酰肝素（Heparan Sulfate, HS）链结合，参与细胞间黏附、信号传导及微环境调控。SDC1主要表达于上皮细胞和浆细胞表面，其生物学功能包括：1）作为共受体协助生长因子（如FGF、HGF）与受体结合，激活下游促增殖或分化通路；2）通过HS链结合细胞外基质成分（如纤连蛋白、胶原）维持组织结构；3）调控炎症反应，例如通过结合趋化因子引导免疫细胞迁移。SDC1的突变可能导致其胞外域脱落（shedding）异常，与多发性骨髓瘤（浆细胞中SDC1高表达且脱落片段促进肿瘤进展）、乳腺癌（突变后失去抑癌功能）等疾病相关。过表达SDC1会增强肿瘤细胞转移能力（因HS链促进侵袭），而敲低表达则削弱伤口愈合（因生长因子信号受阻）。该基因还参与Wnt/β-catenin等通路，过表达可能抑制PTEN等抑癌基因。其可溶性形式（sSDC1）是炎症标志物，在COVID-19重症患者中升高。术语解释：硫酸乙酰肝素（HS）是一种糖胺聚糖，负责结合多种蛋白质；共受体（co-receptor）指辅助主受体完成信号传递的分子。
The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-1 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-1 expression has been detected in several different tumor types. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same protein. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是一种跨膜（I型）硫酸乙酰肝素蛋白多糖，并且是聚糖蛋白聚糖家族中的一员。所述syndecans介导的细胞结合，细胞信号传导和细胞骨架组织和聚糖受体所需的HIV-1的Tat蛋白的内化。该多配体聚糖-1蛋白作为完整的膜蛋白，并通过其细胞外基质蛋白受体参与细胞增殖，细胞迁移和细胞 - 基质相互作用。改变聚糖-1的表达已经在几个不同的肿瘤类型被检测到。而几个转录变异体可能存在于该基因，只有两个全长性质已经描述到日期。这两个代表该基因的主要变体和编码相同蛋白。 [由RefSeq的，2008年7月提供]
基因本体信息
SDC1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
SDC1基因的本体（GO）信息：
| 名称 |
|---|
| 4512 ECM-receptor interaction [PATH:hsa04512] |
| 4514 Cell adhesion molecules (CAMs) [PATH:hsa04514] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5144 Malaria [PATH:hsa05144] |
| 名称 |
|---|
| A tetrasaccharide linker sequence is required for GAG synthesis |
| Chondroitin sulfate/dermatan sulfate metabolism |
| Chylomicron-mediated lipid transport |
| Defective B3GAT3 causes JDSSDHD |
| Defective B4GALT7 causes EDS, progeroid type |
| Defective EXT1 causes exostoses 1, TRPS2 and CHDS |
| Defective EXT2 causes exostoses 2 |
| Disease |
| Diseases associated with glycosaminoglycan metabolism |
| Diseases of glycosylation |
| Extracellular matrix organization |
| Glycosaminoglycan metabolism |
| Heparan sulfate/heparin (HS-GAG) metabolism |
| HS-GAG biosynthesis |
| HS-GAG degradation |
| Lipid digestion, mobilization, and transport |
| Lipoprotein metabolism |
| Metabolism of carbohydrates |
| Metabolism of lipids and lipoproteins |
| Non-integrin membrane-ECM interactions |
| Retinoid metabolism and transport |
| Syndecan interactions |
| Visual phototransduction |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Obesity | 0.080271442 | 2 | 0 | BeFree_RGD |
| Hyperlipidemia | 0.08 | 1 | 0 | RGD |
| Myocardial Infarction | 0.08 | 1 | 0 | RGD |
| Proteinuria | 0.08 | 1 | 0 | RGD |
| Inflammation | 0.08 | 1 | 0 | RGD |
| Multiple Myeloma | 0.030411421 | 102 | 0 | BeFree_LHGDN |
| Mammary Neoplasms | 0.011168843 | 5 | 0 | BeFree_LHGDN |
| Neoplasm Metastasis | 0.005981653 | 12 | 0 | BeFree_LHGDN |
| Squamous cell carcinoma | 0.005167327 | 9 | 0 | BeFree_LHGDN |
| Breast Carcinoma | 0.004614512 | 17 | 0 | BeFree |
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