Gene Gene information from NCBI Gene database.
Entrez ID 207
Gene name AKT serine/threonine kinase 1
Gene symbol AKT1
Synonyms (NCBI Gene)
AKTPKBPKB-ALPHAPRKBARACRAC-ALPHA
Chromosome 14
Chromosome location 14q32.33
Summary This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. These highly similar AKT proteins all have an N-terminal pleckstrin homology domain,
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs121434592 C>T Pathogenic, likely-pathogenic, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
rs368667384 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, non coding transcript variant
rs397514644 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs397514645 T>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs1057518602 T>C Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
453
miRTarBase ID miRNA Experiments Reference
MIRT003984 hsa-miR-199a-3p Western blot 18456660
MIRT004363 hsa-miR-125b-5p qRT-PCRWestern blot 18649363
MIRT004701 hsa-miR-185-5p FlowImmunoblotMicroarrayqRT-PCR 19688090
MIRT005355 hsa-miR-149-3p Luciferase reporter assayqRT-PCRWestern blot 20623644
MIRT005355 hsa-miR-149-3p Luciferase reporter assayqRT-PCRWestern blot 20623644
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
APC Repression 15888491
AR Activation 11278645
AR Repression 20589722
GLI1 Unknown 23580656
NFKB1 Repression 18031796
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
293
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001649 Process Osteoblast differentiation IDA 22869525
GO:0001649 Process Osteoblast differentiation IEA
GO:0001893 Process Maternal placenta development IEA
GO:0001938 Process Positive regulation of endothelial cell proliferation IMP 19850054
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164730 391 ENSG00000142208
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P31749
Protein name RAC-alpha serine/threonine-protein kinase (EC 2.7.11.1) (Protein kinase B) (PKB) (Protein kinase B alpha) (PKB alpha) (Proto-oncogene c-Akt) (RAC-PK-alpha)
Protein function AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis (PubMed:11882383, PubMed
PDB 1H10 , 1UNP , 1UNQ , 1UNR , 2UVM , 2UZR , 2UZS , 3CQU , 3CQW , 3MV5 , 3MVH , 3O96 , 3OCB , 3OW4 , 3QKK , 3QKL , 3QKM , 4EJN , 4EKK , 4EKL , 4GV1 , 5KCV , 6BUU , 6CCY , 6HHF , 6HHG , 6HHH , 6HHI , 6HHJ , 6NPZ , 6S9W , 6S9X , 7APJ , 7MYX , 7NH4 , 7NH5 , 8JOW , 8UVY , 8UW2 , 8UW7 , 8UW9 , 8ZPU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 6 108 PH domain Domain
PF00069 Pkinase 150 408 Protein kinase domain Domain
PF00433 Pkinase_C 429 474 Protein kinase C terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in prostate cancer and levels increase from the normal to the malignant state (at protein level). Expressed in all human cell types so far analyzed. The Tyr-176 phosphorylated form shows a significant increase in expression i
Sequence
Sequence length 480
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
82
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Breast adenocarcinoma Pathogenic rs121434592 RCV000015017
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of colon Pathogenic rs121434592 RCV000015018
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cowden syndrome 6 Pathogenic rs121434592, rs397514644, rs397514645 RCV000795313
RCV000033177
RCV000033178
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Pathogenic rs121434592 RCV006253621
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AKT1-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 32152504 Associate
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 18199958, 20856158, 25245477
★☆☆☆☆
Found in Text Mining only
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME BEFREE 29675019
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 18054314
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 12556562, 18392055, 24850755
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18665177, 22185211, 24244612, 27018341, 27717743, 27725691, 30669372, 31275848, 31560953
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 19638627, 23380710
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 27531894, 29296810, 31056348
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28117219, 29620213, 30694771, 31531867, 31810129
★☆☆☆☆
Found in Text Mining only