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Details of AKT1 gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| AKT1 | PKB,RAC | P31749 | AKT1_HUMAN | 207 | ENSG00000142208 | RAC-alpha serine/threonine-protein kinase | SPROT |
Disease |
Disease |
OMIM id |
Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. |
114480 |
Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis. |
114500 |
Note=Genetic variations in AKT1 may play a role in susceptibility to ovarian cancer. |
114500 |
Proteus syndrome (PROTEUSS) [MIM:176920]: A highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Many features of Proteus syndrome overlap with other overgrowth syndromes. Note=The disease is caused by mutations affecting the gene represented in this entry. |
176920 |
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Akt1 | Akt1 | | Sp-Akt-1 |