ABCC1 (ATP binding cassette subfamily C member 1)
- symbol:
- ABCC1
- locus group:
- protein-coding gene
- location:
- 16p13.11
- gene_family:
- ATP-binding cassette, sub-family C (CFTR/MRP)
- alias symbol:
- GS-X
- alias name:
- glutathione S-conjugate export pump
- entrez id:
- 4363
- ensembl gene id:
- ENSG00000103222
- ucsc gene id:
- uc010bvi.4
- refseq accession:
- NM_004996
- hgnc_id:
- HGNC:51
- approved reserved:
- 1993-06-29
ABCC1（ATP-binding cassette subfamily C member 1）属于ABC转运蛋白超家族中的ABCC亚家族，也称为多药耐药相关蛋白1（MRP1）。该基因编码的蛋白质是一种跨膜转运蛋白，主要功能是利用ATP水解产生的能量将各种内源性和外源性物质（如药物、毒素、代谢产物等）从细胞内泵出，从而维持细胞内环境的稳定。ABCC1在多种组织中广泛表达，尤其在肺、睾丸、胎盘和血脑屏障的内皮细胞中表达较高。它的主要作用位点是细胞膜，但也存在于某些细胞器的膜上。ABCC1的突变可能导致其转运功能受损，进而影响药物代谢和毒素清除，与某些遗传性疾病（如杜宾-约翰逊综合征）和肿瘤多药耐药性密切相关。当ABCC1过表达时，可能导致癌细胞对化疗药物（如长春碱类、蒽环类抗生素）的耐药性增强，降低治疗效果；而降低表达则可能增加细胞对药物的敏感性，但也可能导致某些毒素在细胞内积累，引发毒性反应。ABCC1还参与炎症反应和氧化应激的调节，其过表达可能加重某些炎症性疾病（如哮喘）的病理过程。ABCC基因家族的共性包括：均编码含有ATP结合结构域（NBD）和跨膜结构域（TMD）的转运蛋白，参与多种物质的跨膜转运，与药物代谢、毒物排泄和细胞保护功能密切相关。该家族成员（如ABCC2、ABCC3等）在功能上有部分重叠，但在底物特异性和组织分布上存在差异。
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]
由该基因编码的蛋白质是ATP结合盒（ABC）转运蛋白的超家族中的一员。 ABC蛋白质跨额外和细胞内的跨膜运输各种分子。 ABC基因被分为七个不同亚科（ABC1，MDR / TAP，MRP，ALD，OABP，GCN20，白色）。这充分转运是其参与多药耐药性的MRP亚科的成员。该蛋白质的功能作为多特异性有机阴离子转运，与氧化的谷胱甘肽，半胱氨酰白三烯，和活化的黄曲霉毒素B1作为底物。这种蛋白也转运葡糖苷酸和类固醇激素和胆汁盐的硫酸盐共轭物。这个基因的可变剪接变体已被描述，但是它们的全长性质是未知的。 [由RefSeq的，2012年4月提供]
基因本体信息
ABCC1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
ABCC1基因的本体（GO）信息：
| 名称 |
|---|
| 2010 ABC transporters [PATH:hsa02010] |
| 4071 Sphingolipid signaling pathway [PATH:hsa04071] |
| 4977 Vitamin digestion and absorption [PATH:hsa04977] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 名称 |
|---|
| ABC-family proteins mediated transport |
| Arachidonic acid metabolism |
| Cobalamin (Cbl, vitamin B12) transport and metabolism |
| Metabolism |
| Metabolism of lipids and lipoproteins |
| Metabolism of vitamins and cofactors |
| Metabolism of water-soluble vitamins and cofactors |
| Synthesis of Leukotrienes (LT) and Eoxins (EX) |
| Transmembrane transport of small molecules |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Mammary Neoplasms | 0.131711727 | 8 | 0 | BeFree_CTD_human_LHGDN |
| Colorectal Neoplasms | 0.122367032 | 2 | 0 | CTD_human_GAD |
| Hypertensive disease | 0.122367032 | 1 | 1 | CTD_human_GAD |
| Peripheral Neuropathy | 0.120271442 | 1 | 2 | BeFree_CTD_human |
| Adverse reaction to drug | 0.12 | 1 | 0 | CTD_human |
| Squamous cell carcinoma of the head and neck | 0.12 | 1 | 0 | CTD_human |
| Heart Diseases | 0.12 | 1 | 0 | CTD_human |
| Disease Progression | 0.12 | 1 | 0 | CTD_human |
| Leukemia, Myelocytic, Acute | 0.020844942 | 49 | 0 | BeFree_GAD_LHGDN |
| Malignant neoplasm of lung | 0.013615701 | 26 | 1 | BeFree_GAD |
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