AKT1 - RAC-alpha serine/threonine-protein kinase - human protein (Medical)
 
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AKT1 »  RAC-alpha serine/threonine-protein kinase   [ EC 2.7.11.1 ]
 
Protein also known as:  Protein kinase B alpha (PKB alpha).
Gene name:  AKT1
Entry whose protein(s) existence is based on evidence at protein level
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1 1513 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Genetic variations in AKT1 may play a role in susceptibility to ovarian cancer.  
  • CuratedUniProtKB
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. Disease susceptibility is associated with variations affecting the gene represented in this entry.  
  • CuratedUniProtKB
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. The gene represented in this entry may be involved in disease pathogenesis.  
  • CuratedUniProtKB
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. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Cowden syndrome 6 (CWS6) [MIM:615109]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Cowden syndrome  201  
Proteus syndrome  744  
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drugs:
Adenosine triphosphate  DB00171  
Arsenic trioxide  DB01169  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Proto-oncogene  definition   [KW-0656]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 207
MIM: 114480
MIM: 114500
MIM: 176920
MIM: 615109
PharmGKB: PA24684
Polymorphism databases
DMDM: 60391226
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.