Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
207
Gene name Gene Name - the full gene name approved by the HGNC.
AKT serine/threonine kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AKT1
Synonyms (NCBI Gene) Gene synonyms aliases
AKT, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003984 hsa-miR-199a-3p Western blot 18456660
MIRT004363 hsa-miR-125b-5p qRT-PCR, Western blot 18649363
MIRT004701 hsa-miR-185-5p Flow, Immunoblot, Microarray, qRT-PCR 19688090
MIRT005355 hsa-miR-149-3p Luciferase reporter assay, qRT-PCR, Western blot 20623644
MIRT005355 hsa-miR-149-3p Luciferase reporter assay, qRT-PCR, Western blot 20623644
Transcription factors
Transcription factor Regulation Reference
APC Repression 15888491
AR Activation 11278645
AR Repression 20589722
GLI1 Unknown 23580656
NFKB1 Repression 18031796
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation IEA
GO:0001893 Process Maternal placenta development IEA
GO:0001934 Process Positive regulation of protein phosphorylation IDA 19057511
GO:0001938 Process Positive regulation of endothelial cell proliferation IMP 19850054
GO:0002042 Process Cell migration involved in sprouting angiogenesis IMP 28341552
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164730 391 ENSG00000142208
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Proteus Syndrome Proteus syndrome GenCC
Cowden Syndrome Cowden syndrome 6 GenCC
Associations from Text Mining
Disease Name Relationship Type References
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 22363598
AA amyloidosis Associate 36065437
Abortion Threatened Associate 32775426
Achalasia Addisonianism Alacrimia syndrome Associate 22431556
Acidosis Stimulate 25504433, 35046108
Acidosis Lactic Associate 32152504
Acquired ichthyosis Associate 36303457
Acrocephalosyndactylia Associate 17003487
Acute Disease Associate 37295770
Acute Kidney Injury Associate 34802380