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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] See more...
Aliases for AKT1S1 Gene
Aliases for AKT1S1 Gene
External Ids for AKT1S1 Gene
- HGNC: 28426
- Entrez Gene: 84335
- Ensembl: ENSG00000204673
- OMIM: 610221
- UniProtKB: Q96B36
Previous GeneCards Identifiers for AKT1S1 Gene
- GC19M055067
- GC19M055071
- GC19M055073
- GC19M050372
- GC19M046748
Summaries for AKT1S1 Gene
-
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]
GeneCards Summary for AKT1S1 Gene
AKT1S1 (AKT1 Substrate 1) is a Protein Coding gene. Diseases associated with AKT1S1 include Localized Pulmonary Fibrosis and Tuberous Sclerosis 1. Among its related pathways are RET signaling and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..
UniProtKB/Swiss-Prot Summary for AKT1S1 Gene
-
Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Within mTORC1, AKT1S1 negatively regulates mTOR activity in a manner that is dependent on its phosphorylation state and binding to 14-3-3 proteins. Inhibits RHEB-GTP-dependent mTORC1 activation. Substrate for AKT1 phosphorylation, but can also be activated by AKT1-independent mechanisms. May also play a role in nerve growth factor-mediated neuroprotection.
Additional gene information for AKT1S1 Gene
- HGNC(28426)
- Entrez Gene(84335)
- Ensembl(ENSG00000204673)
- OMIM(610221)
- UniProtKB(Q96B36)
- Open Targets Platform(ENSG00000204673)
- Monarch Initiative
- Search for AKT1S1 at DataMed
- Search for AKT1S1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKT1S1 Gene
Genomics for AKT1S1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for AKT1S1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around AKT1S1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKT1S1
- Top Transcription factor binding sites by QIAGEN in the AKT1S1 gene promoter:
-
- p300
- Sp1
- SRY
Genomic Locations for AKT1S1 Gene
Genomic Locations for AKT1S1 Gene
- chr19:49,869,033-49,878,459
- (GRCh38/hg38)
- Size:
- 9,427 bases
- Orientation:
- Minus strand
- chr19:50,372,295-50,381,716
- (GRCh37/hg19)
- Size:
- 9,422 bases
- Orientation:
- Minus strand
Genomic View for AKT1S1 Gene
Genes around AKT1S1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
AKT1S1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AKT1S1 Gene
Proteins for AKT1S1 Gene
-
Protein details for AKT1S1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96B36-AKTS1_HUMAN
- Recommended name:
- Proline-rich AKT1 substrate 1
- Protein Accession:
- Q96B36
- A8MTQ1
- B2RE93
- J3KPM3
- Q96BI4
- Q96IK7
- Q96NG2
- Q9BWR5
Protein attributes for AKT1S1 Gene
- Size:
- 256 amino acids
- Molecular mass:
- 27383 Da
- Quaternary structure:
-
- Part of the mammalian target of rapamycin complex 1 (mTORC1) which contains MTOR, MLST8, RPTOR, AKT1S1/PRAS40 and DEPTOR. mTORC1 binds to and is inhibited by FKBP12-rapamycin. Interacts directly with RPTOR. The phosphorylated form interacts with 14-3-3 proteins.
- SequenceCaution:
-
- Sequence=AAH00031.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for AKT1S1 Gene
Protein Expression for AKT1S1 Gene
Post-translational modifications for AKT1S1 Gene
- Phosphorylated by AKT1 (PubMed:12524439). Phosphorylation at Thr-246 by DYRK3 relieves inhibitory function on mTORC1 (PubMed:23415227).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for AKT1S1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences AKT1S1 / PRAS40 Monoclonal Antibody
- NSJ Bioreagents AKT1S1 Antibody
- HUABIO AKT1S1 antibody
-
Custom Antibody ServicesOriGene Antibodies for AKT1S1
- Novus Biologicals Antibodies for AKT1S1
-
Abcam antibodies for AKT1S1
- Invitrogen Antibodies for AKT1S1 (AFLGC-AKT1S1)
-
Boster Bio Antibodies for AKT1S1
-
Custom Antibody ServicesProSci Antibodies for AKT1S1
-
Santa Cruz Biotechnology (SCBT) Antibodies for AKT1S1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for AKT1S1
- Origene Custom Protein Services for AKT1S1
-
Signalway Proteins for AKT1S1
Assay Products
- G Biosciences Immunotag™ Proline-rich AKT1 substrate 1 ELISA Kit
-
Signalway ELISA kits for AKT1S1
-
Abcam assays for AKT1S1
No data available for DME Specific Peptides for AKT1S1 Gene
Domains & Families for AKT1S1 Gene
Gene Families for AKT1S1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for AKT1S1 Gene
- GenScript: Design optimal peptide antigens:
-
- 40 kDa proline-rich AKT substrate (AKTS1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AKT1S1 Gene
Function for AKT1S1 Gene
Molecular function for AKT1S1 Gene
- UniProtKB/Swiss-Prot Function:
- Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Within mTORC1, AKT1S1 negatively regulates mTOR activity in a manner that is dependent on its phosphorylation state and binding to 14-3-3 proteins. Inhibits RHEB-GTP-dependent mTORC1 activation. Substrate for AKT1 phosphorylation, but can also be activated by AKT1-independent mechanisms. May also play a role in nerve growth factor-mediated neuroprotection.
Phenotypes From GWAS Catalog for AKT1S1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 12524439 |
Phenotypes for AKT1S1 Gene
- MGI mutant phenotypes for AKT1S1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AKT1S1:
-
- no effect
- Increased IL-8 secretion
- Reduced mammosphere formation
- Increased hepcidin::fluc mRNA expression
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Downregulation of NF-kappaB pathway after TNFalpha stimulation
- Downregulation of NF-kappaB pathway after IL-1beta stimulation
- Increased epidermal growth factor (EGF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
Animal Models for AKT1S1 Gene
- MGI Knock Outs for AKT1S1:
-
- Akt1s1 Akt1s1<tm1.1Rrth>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AKT1S1 - Select products 50% OFF >
- * AKT1S1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AKT1S1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AKT1S1
-
Santa Cruz Biotechnology (SCBT) CRISPR for AKT1S1
miRNA for AKT1S1 Gene
- miRTarBase miRNAs that target AKT1S1
-
- hsa-miR-124-3p (MIRT022786)
- hsa-miR-484 (MIRT041919)
- hsa-miR-185-5p (MIRT045373)
- hsa-miR-142-3p (MIRT441240)
- mmu-miR-96-5p (MIRT731160)
- hsa-miR-139-3p (MIRT737541)
- hsa-miR-1587 (MIRT737912)
- hsa-miR-1908-5p (MIRT738311)
- hsa-miR-2467-3p (MIRT739239)
- hsa-miR-30c-1-3p (MIRT739810)
- hsa-miR-30c-2-3p (MIRT739853)
- hsa-miR-3134 (MIRT740107)
- hsa-miR-3173-3p (MIRT740606)
- hsa-miR-3202 (MIRT741127)
- hsa-miR-3620-5p (MIRT741740)
- hsa-miR-3652 (MIRT741881)
- hsa-miR-3677-3p (MIRT742145)
- hsa-miR-4281 (MIRT743700)
- hsa-miR-431-3p (MIRT743970)
- hsa-miR-432-3p (MIRT744054)
- hsa-miR-4417 (MIRT744137)
- hsa-miR-4430 (MIRT744319)
- hsa-miR-4440 (MIRT744511)
- hsa-miR-4449 (MIRT744682)
- hsa-miR-4450 (MIRT744686)
- hsa-miR-4492 (MIRT745272)
- hsa-miR-4498 (MIRT745353)
- hsa-miR-450a-1-3p (MIRT745564)
- hsa-miR-4533 (MIRT745995)
- hsa-miR-4656 (MIRT746645)
- hsa-miR-4675 (MIRT746873)
- hsa-miR-4695-5p (MIRT747164)
- hsa-miR-4706 (MIRT747322)
- hsa-miR-4741 (MIRT748110)
- hsa-miR-4746-5p (MIRT748215)
- hsa-miR-4749-5p (MIRT748303)
- hsa-miR-488-3p (MIRT749149)
- hsa-miR-5001-5p (MIRT749346)
- hsa-miR-542-5p (MIRT750418)
- hsa-miR-5681a (MIRT751140)
- hsa-miR-6087 (MIRT751895)
- hsa-miR-6089 (MIRT751946)
- hsa-miR-635 (MIRT752672)
- hsa-miR-663a (MIRT753572)
- hsa-miR-6716-5p (MIRT753715)
- hsa-miR-6730-5p (MIRT753969)
- hsa-miR-6731-5p (MIRT753986)
- hsa-miR-6774-5p (MIRT755339)
- hsa-miR-6787-5p (MIRT755932)
- hsa-miR-6788-5p (MIRT755962)
- hsa-miR-6829-5p (MIRT757096)
- hsa-miR-6857-5p (MIRT757751)
- hsa-miR-6871-5p (MIRT758020)
- hsa-miR-6878-5p (MIRT758196)
- hsa-miR-6891-5p (MIRT758664)
- hsa-miR-7150 (MIRT759156)
- hsa-miR-762 (MIRT759488)
- hsa-miR-8085 (MIRT760189)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AKT1S1
- Browse OriGene Inhibitory RNA Products For AKT1S1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKT1S1
Clone Products
- Applied Biological Materials (abm): Clones for AKT1S1 - Select products 50% OFF >
- * AKT1S1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG225878
- MR225878
- MR225878L3
- MR225878L4
- MR228182
- MR228834
- MR228987
- RC200919
- RC200919L1
- RC200919L2
- RC200919L3
- RC200919L4
- RC211995
- RC211995L3
- RC211995L4
- RC212216
- RC212216L3
- RC212216L4
- RC236980
- RC236981
- RG200919
- RG211995
- RG212216
- RR210065
- RR210065L3
- RR210065L4
- MR225878L3V
- MR225878L4V
- RC200919L1V
- RC200919L2V
- RC200919L3V
- RC200919L4V
- RC211995L3V
- RC211995L4V
- RC212216L3V
- RC212216L4V
- RR210065L3V
- RR210065L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AKT1S1
- Addgene plasmids for AKT1S1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AKT1S1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKT1S1 Gene
Localization for AKT1S1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for AKT1S1 Gene
- Cytoplasm, cytosol. Note=Found in the cytosolic fraction of the brain. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0031931 | colocalizes_with TORC1 complex | IDA | 17386266 |
Pathways & Interactions for AKT1S1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
|
| 2 | GAB1 signalosome |
.89
|
|
| 3 | mTOR signalling |
.72
|
.51
|
| 4 | AMP-activated Protein Kinase (AMPK) Signaling | ||
| 5 | Longevity regulating pathway | ||
Pathways by source for AKT1S1 Gene
5 Sino Biological pathways for AKT1S1 Gene
5 BioSystems pathways for AKT1S1 Gene
37 Reactome pathways for AKT1S1 Gene
1 PharmGKB pathway for AKT1S1 Gene
7 KEGG pathways for AKT1S1 Gene
3 R&D Systems pathways for AKT1S1 Gene
2 Qiagen pathways for AKT1S1 Gene
- 14-3-3 Induced Intracellular Signaling
- Akt Signaling
2 Cell Signaling Technology pathways for AKT1S1 Gene
1 GeneTex pathway for AKT1S1 Gene
Interacting Proteins for AKT1S1 Gene
Selected Interacting proteins:
Q96B36-AKTS1_HUMAN
ENSP00000375711
for AKT1S1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for AKT1S1
SIGNOR curated interactions for AKT1S1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006469 | negative regulation of protein kinase activity | IBA,IDA | 17386266 |
| GO:0032007 | negative regulation of TOR signaling | IDA | 17386266 |
| GO:0042981 | regulation of apoptotic process | ISS | -- |
| GO:0043523 | regulation of neuron apoptotic process | ISS | -- |
| GO:0045792 | negative regulation of cell size | IDA | 17386266 |
Transcripts for AKT1S1 Gene
mRNA/cDNA for AKT1S1 Gene
- 5 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000391833 3640 nts (view in UCSC)
- ENST00000391832 1911 nts (view in UCSC)
- ENST00000344175 1760 nts (view in UCSC)
- ENST00000391831 2025 nts (view in UCSC)
- ENST00000391835 3075 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AKT1S1 - Select products 50% OFF >
- * AKT1S1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AKT1S1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AKT1S1
-
Santa Cruz Biotechnology (SCBT) CRISPR for AKT1S1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AKT1S1
- Browse OriGene Inhibitory RNA Products For AKT1S1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKT1S1
Clone Products
- Applied Biological Materials (abm): Clones for AKT1S1 - Select products 50% OFF >
- * AKT1S1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG225878
- MR225878
- MR225878L3
- MR225878L4
- MR228182
- MR228834
- MR228987
- RC200919
- RC200919L1
- RC200919L2
- RC200919L3
- RC200919L4
- RC211995
- RC211995L3
- RC211995L4
- RC212216
- RC212216L3
- RC212216L4
- RC236980
- RC236981
- RG200919
- RG211995
- RG212216
- RR210065
- RR210065L3
- RR210065L4
- MR225878L3V
- MR225878L4V
- RC200919L1V
- RC200919L2V
- RC200919L3V
- RC200919L4V
- RC211995L3V
- RC211995L4V
- RC212216L3V
- RC212216L4V
- RR210065L3V
- RR210065L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for AKT1S1
- Addgene plasmids for AKT1S1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AKT1S1
Relevant External Links for AKT1S1 Gene
- GeneLoc Exon Structure for
- AKT1S1
Expression for AKT1S1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Skeletal Muscle (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
This gene is overexpressed in Adrenal (22.8), Bone marrow stromal cell (12.0), and Lung (8.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKT1S1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKT1S1
SOURCE GeneReport for Unigene cluster for AKT1S1 Gene:
Hs.515542mRNA Expression by UniProt/SwissProt for AKT1S1 Gene:
Q96B36-AKTS1_HUMAN
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).
Evidence on tissue expression from TISSUES for AKT1S1 Gene
- Liver(4.6)
- Nervous system(4.1)
- Skin(3.8)
- Lung(2.9)
- Muscle(2.9)
- Intestine(2.7)
- Kidney(2.6)
- Heart(2.6)
- Pancreas(2.5)
- Blood(2.4)
- Lymph node(2.2)
- Thyroid gland(2.2)
- Eye(2.1)
- Spleen(2.1)
- Stomach(2.1)
Primer Products
-
OriGene qPCR primer pairs for AKT1S1
-
OriGene qPCR primer pairs and template standards for AKT1S1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKT1S1 Gene
Orthologs for AKT1S1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | AKT1S1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | AKT1S1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | AKT1S1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Akt1s1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Akt1s1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | AKT1S1 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | AKT1S1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | akt1s1 30 |
|
||
| Str.8926 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7177 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | akt1s1 31 |
|
OneToOne |
- Species where no ortholog for AKT1S1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for AKT1S1 Gene
- ENSEMBL:
- Gene Tree for AKT1S1 (if available)
- TreeFam:
- Gene Tree for AKT1S1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for AKT1S1: view image
Paralogs for AKT1S1 Gene
No data available for Paralogs for AKT1S1 Gene
Variants for AKT1S1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKT1S1 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 713406 | Benign: not provided | 49,873,131(-) | C/T | SYNONYMOUS_VARIANT | |
| 716506 | Benign: not provided | 49,872,948(-) | G/A | SYNONYMOUS_VARIANT | |
| rs17850191 | - | p.Ala47Pro |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv53n68 | CNV | loss | 17160897 |
| dgv54n68 | CNV | loss | 17160897 |
| esv2718724 | CNV | deletion | 23290073 |
| esv2718725 | CNV | deletion | 23290073 |
| esv3644628 | CNV | gain | 21293372 |
| esv3644630 | CNV | gain | 21293372 |
| nsv1111553 | CNV | deletion | 24896259 |
| nsv1121196 | CNV | deletion | 24896259 |
| nsv1140251 | OTHER | inversion | 24896259 |
| nsv1152384 | CNV | deletion | 26484159 |
| nsv138068 | CNV | deletion | 16902084 |
| nsv2519 | CNV | deletion | 18451855 |
| nsv524068 | CNV | loss | 19592680 |
| nsv526372 | CNV | loss | 19592680 |
| nsv953600 | CNV | deletion | 24416366 |
| nsv9739 | CNV | gain+loss | 18304495 |
Gene Damage Index Score:
1.17;
23.65% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AKT1S1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- AKT1S1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKT1S1 Gene
Disorders for AKT1S1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| localized pulmonary fibrosis |
|
|
| tuberous sclerosis 1 |
|
|
| tuberous sclerosis 2 |
|
|
| subependymal glioma |
|
|
| proteus syndrome |
|
|
Search AKT1S1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for AKT1S1
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for AKT1S1 Gene
Publications for AKT1S1 Gene
- Identification of a proline-rich Akt substrate as a 14-3-3 binding partner. (PMID: 12524439) Kovacina KS … Roth RA (The Journal of biological chemistry 2003) 2 3 4
- Insulin signalling to mTOR mediated by the Akt/PKB substrate PRAS40. (PMID: 17277771) Vander Haar E … Kim DH (Nature cell biology 2007) 3 4
- PRAS40 is an insulin-regulated inhibitor of the mTORC1 protein kinase. (PMID: 17386266) Sancak Y … Sabatini DM (Molecular cell 2007) 3 4
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
- Expression of proline-rich Akt-substrate PRAS40 in cell survival pathway and carcinogenesis. (PMID: 16174443) Huang B … Porter G (Acta pharmacologica Sinica 2005) 3 4
ExternalLinks
Products for AKT1S1 Gene
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- antibodies-online: Show 42 available AKT1S1 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for AKT1S1
- Search Santa Cruz Biotechnology (SCBT) for AKT1S1 siRNA/shRNA
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- Boster Bio Antibodies for AKT1S1
- Browse Boster Bio ELISA Kits
Sources for AKT1S1 Gene
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