更多...
收起
Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]
[中文简述(自动翻译):]  预mRNA剪接是由剪接,专门的RNA和蛋白质亚基组成一个复杂的,可以消除转录mRNA前体的内含子段催化。剪接由小核RNA蛋白质(的snRNPs)U1,U2,U4 U5和U6的,具有大约80保守的蛋白质一起。 U5核蛋白包含九个特定的蛋白质。该基因编码的U5特定核蛋白蛋白质之一。这种蛋白属于DEXH盒家族推定的RNA解旋酶的。这是U4 / U6-U5的snRNPs的核心组成部分,似乎催化U4 / U6 RNA duplices的ATP依赖的平仓。突变这个基因导致常染色体显性遗传性视网膜色素变性。编码不同同种型的可变剪接转录物变体已被发现,但这些变体的全长性质尚未确定。 [由RefSeq的,2010年3月提供]
SNRNP200基因(以及对应的蛋白质)的细胞分布位置:
SNRNP200基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| RETINITIS PIGMENTOSA 33 (disorder) | 0.36 | 5 | 3 | CLINVAR_CTD_human_UNIPROT |
| Retinitis Pigmentosa | 0.241085767 | 4 | 3 | BeFree_CLINVAR_ORPHANET |
| Autosomal dominant retinitis pigmentosa | 0.001900093 | 7 | 1 | BeFree |
| Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
| Degenerative disorder | 0.000271442 | 1 | 0 | BeFree |
| Photoreceptor degeneration | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。