Gene Gene information from NCBI Gene database.
Entrez ID 84335
Gene name AKT1 substrate 1
Gene symbol AKT1S1
Synonyms (NCBI Gene)
LobePRAS40
Chromosome 19
Chromosome location 19q13.33
Summary AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
91
miRTarBase ID miRNA Experiments Reference
MIRT022786 hsa-miR-124-3p Microarray 18668037
MIRT045373 hsa-miR-185-5p CLASH 23622248
MIRT041919 hsa-miR-484 CLASH 23622248
MIRT441240 hsa-miR-142-3p HITS-CLIP 22473208
MIRT441240 hsa-miR-142-3p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0002181 Process Cytoplasmic translation IDA 8706699, 34314702
GO:0004860 Function Protein kinase inhibitor activity IDA 18372248
GO:0005515 Function Protein binding IPI 12524439, 15161933, 17386266, 17604271, 17979178, 18372248, 19648646, 24255178, 28514442, 33961781, 35271311, 36931259
GO:0005654 Component Nucleoplasm TAS
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610221 28426 ENSG00000204673
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96B36
Protein name Proline-rich AKT1 substrate 1 (40 kDa proline-rich AKT substrate)
Protein function Negative regulator of the mechanistic target of rapamycin complex 1 (mTORC1), an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth
PDB 5WBL , 5WBU , 5WBY , 6SB0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15798 PRAS 127 251 Proline-rich AKT1 substrate 1 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels of expression in liver and heart. Expressed at higher levels in cancer cell lines (e.g. A-549 and HeLa) than in normal cell lines (e.g. HEK293). {ECO:0000269|PubMed:12524439, ECO:0000269|PubMed:1617
Sequence
MASGRPEELWEAVVGAAERFRARTGTELVLLTAAPPPPPRPGPCAYAAHGRGALAEAARR
CLHDIALAHRAATAARPPAPPPAPQPPSPTPSPPRPTLAREDNEEDEDEPTETETSGEQL
GISDNGGLFVMDEDATLQDLPPFCESDPESTDDGSLSEETPAGPPTCSVPPASALPTQQY
AKSLPVSVPVWGFKEKRTEARSSDEENGPPSSPDLDRIAASMRALVLREAEDTQVFGDLP
RPRLNTSDFQK
LKRKY
Sequence length 256
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Autophagy - animal
mTOR signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Thermogenesis
Shigellosis
  mTOR signalling
mTORC1-mediated signalling
AKT phosphorylates targets in the cytosol
HSF1-dependent transactivation
Constitutive Signaling by AKT1 E17K in Cancer
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 22873724, 23159938
★☆☆☆☆
Found in Text Mining only
Brain Injuries Diffuse Associate 36894313
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 24704832
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 35140327
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Associate 28050343
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 25714871, 35635239
★☆☆☆☆
Found in Text Mining only
COVID 19 Associate 36894313
★☆☆☆☆
Found in Text Mining only
Glioma Associate 35287169
★☆☆☆☆
Found in Text Mining only
Hypertrophy Associate 22879939
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Associate 28050343
★☆☆☆☆
Found in Text Mining only