更多...
收起
The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是属于肌球蛋白重链家族平滑肌肌球蛋白。该基因产物是由两个重链亚基和两对非相同的轻链亚基的六聚体蛋白质的亚基。它的功能作为主要收缩蛋白,通过ATP的水解化学能转换成机械能。编码鼠NUDE1的人直向同源物的基因来自该基因的反向链转录,和它的3‘端与后者的重叠。 16号染色体的臂间倒[INV(16)(p13q22)]产生嵌合转录物,其编码由来自核心结合因子β的N末端的第165个残基的蛋白质与的C-末端部分的融合平滑肌肌球蛋白重链。此染色体重排与M4Eo亚型的急性骨髓性白血病有关。选择性剪接产生差异表达亚型,具有比肌肉细胞成熟过程中的变化。编码不同同种型的可变剪接转录物变体也已确定。 [由RefSeq的,2008年7月提供]
MYH11基因(以及对应的蛋白质)的细胞分布位置:
MYH11基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Aortic aneurysm, familial thoracic 4 | 0.36 | 1 | 6 | CLINVAR_CTD_human_UNIPROT |
| Leukemia, Myelocytic, Acute | 0.144972652 | 93 | 0 | BeFree_CTD_human |
| Acute myelomonocytic leukemia | 0.123810118 | 5 | 0 | BeFree_CTD_human_LHGDN |
| Congenital aneurysm of ascending aorta | 0.121085767 | 4 | 0 | BeFree_ORPHANET |
| Megacystis microcolon intestinal hypoperistalsis syndrome | 0.12 | 0 | 0 | ORPHANET |
| Megaduodenum and/or Megacystis | 0.12 | 0 | 1 | CLINVAR |
| leukemia | 0.008067311 | 22 | 0 | BeFree_GAD |
| Patent ductus arteriosus | 0.006448592 | 5 | 0 | BeFree_GAD_LHGDN |
| Adenoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Peutz-Jeghers Syndrome | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Pseudoxanthoma Elasticum | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Aortic Aneurysm | 0.00272435 | 1 | 0 | LHGDN |
| Asthma | 0.00272435 | 1 | 0 | LHGDN |
| Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Hereditary Nonpolyposis Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Neoplasm, Residual | 0.002714419 | 10 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.002638474 | 1 | 0 | BeFree_GAD |
| Leukemogenesis | 0.001900093 | 7 | 0 | BeFree |
| Eosinophilia | 0.001628651 | 6 | 0 | BeFree |
| Eosinophilic disorder | 0.001628651 | 6 | 0 | BeFree |
| Disorder characterized by eosinophilia | 0.001628651 | 6 | 0 | BeFree |
| Aortic Aneurysm, Thoracic | 0.001357209 | 5 | 0 | BeFree |
| Acute myeloid leukemia, inv(16)(p13q22) | 0.001357209 | 5 | 0 | BeFree |
| MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.001085767 | 4 | 0 | BeFree |
| Colorectal Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Myeloid Leukemia, Chronic | 0.000814326 | 3 | 0 | BeFree |
| Colorectal Cancer | 0.000814326 | 3 | 0 | BeFree |
| Core binding factor acute myeloid leukemia | 0.000814326 | 3 | 0 | BeFree |
| Congenital chromosomal disease | 0.000542884 | 2 | 0 | BeFree |
| Acute Promyelocytic Leukemia | 0.000542884 | 2 | 0 | BeFree |
| Acute leukemia | 0.000542884 | 2 | 0 | BeFree |
| Granulocytic Sarcoma | 0.000542884 | 2 | 0 | BeFree |
| Acute myelomonocytic leukemia with abnormal eosinophils | 0.000542884 | 2 | 0 | BeFree |
| Small Intestinal Sarcoma | 0.000542884 | 2 | 0 | BeFree |
| Treatment related acute myeloid leukaemia | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Hypertensive disease | 0.000271442 | 1 | 1 | BeFree |
| Acute Megakaryocytic Leukemias | 0.000271442 | 1 | 0 | BeFree |
| Myeloid Leukemia | 0.000271442 | 1 | 0 | BeFree |
| Acute Myeloid Leukemia, M1 | 0.000271442 | 1 | 0 | BeFree |
| Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
| Uterine Fibroids | 0.000271442 | 1 | 0 | BeFree |
| pediatric acute myeloblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Mastocytosis, Systemic | 0.000271442 | 1 | 0 | BeFree |
| Trisomy 22 | 0.000271442 | 1 | 0 | BeFree |
| secondary acute myeloid leukemia | 0.000271442 | 1 | 0 | BeFree |
| Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Nevus elasticus | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Dissecting aneurysm of the thoracic aorta | 0.000271442 | 1 | 1 | BeFree |
| Arteriopathic disease | 0.000271442 | 1 | 0 | BeFree |
| Colorectal cancer metastatic | 0.000271442 | 1 | 0 | BeFree |
| Therapy-related myelodysplastic syndrome | 0.000271442 | 1 | 0 | BeFree |
| Diverticulosis | 0.000271442 | 1 | 0 | BeFree |
| SMITH-MCCORT DYSPLASIA | 0.000271442 | 1 | 0 | BeFree |
| Treatment related leukaemia | 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。