SART1 (spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP)
- symbol:
- SART1
- locus group:
- protein-coding gene
- location:
- 11q13.1
- gene_family:
- alias symbol:
- Ara1|Snu66|SNRNP110|HAF
- alias name:
- small nuclear ribonucleoprotein 11…
- entrez id:
- 9092
- ensembl gene id:
- ENSG00000175467
- ucsc gene id:
- uc001ogl.4
- refseq accession:
- NM_005146
- hgnc_id:
- HGNC:10538
- approved reserved:
- 1999-01-29
This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]
这个基因编码两种蛋白，在大多数增殖细胞的细胞核表达的SART1（800）蛋白质，并在上皮癌的胞质溶胶中表达的SART1（259）的蛋白质。该SART1（259）蛋白质是由转录后调节时-1移码的机制转换;其全长序列尚未发布。两种编码的蛋白质被认为是参与细胞增殖的调节。这两种蛋白质有肿瘤排斥抗原。所述SART1（259）蛋白具有能在癌症患者中诱导的HLA-A2402-限制的细胞毒T淋巴细胞的肿瘤抗原表位。此SART1（259）抗原可以是在癌症患者特异性免疫有用，可作为用于治疗患有特应性的诊断和治疗一个例证工具。所述SART1（259）的蛋白质被发现是对三核蛋白的募集在剪接组件通路预剪接必不可少的。 [由RefSeq的，2008年7月提供]
基因本体信息
SART1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
SART1基因的本体（GO）信息：
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Malignant neoplasm of prostate | 0.002367032 | 1 | 0 | GAD |
| Breast Carcinoma | 0.000814326 | 3 | 1 | BeFree |
| Malignant neoplasm of breast | 0.000814326 | 3 | 1 | BeFree |
| Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma | 0.000271442 | 1 | 1 | BeFree |
| Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
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