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AKT1S1 AKT1 substrate 1 [ Homo sapiens (human) ]

Gene ID: 84335, updated on 5-Mar-2024

Summary

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Official Symbol
AKT1S1provided by HGNC
Official Full Name
AKT1 substrate 1provided by HGNC
Primary source
HGNC:HGNC:28426
See related
Ensembl:ENSG00000204673 MIM:610221; AllianceGenome:HGNC:28426
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Lobe; PRAS40
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]
Expression
Ubiquitous expression in fat (RPKM 12.1), kidney (RPKM 8.8) and 25 other tissues See more
Orthologs
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Genomic context

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See AKT1S1 in Genome Data Viewer
Location:
19q13.33
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49869033..49878356, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52869170..52878493, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50372290..50381613, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene PTOV1 extended AT-hook containing adaptor protein Neighboring gene PTOV1 antisense RNA 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50368723-50369505 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50369506-50370288 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50370289-50371070 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50373269-50373916 Neighboring gene polynucleotide kinase 3'-phosphatase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50379233-50380192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14965 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50381153-50382112 Neighboring gene uncharacterized LOC124904743 Neighboring gene TBC1 domain family member 17 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50393336-50394003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50394004-50394672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50394673-50395339 Neighboring gene microRNA 4750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14966 Neighboring gene interleukin 4 induced 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50411173-50411894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50415677-50416528 Neighboring gene nucleoporin 62 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50424983-50425650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50425735-50426488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10947 Neighboring gene activating transcription factor 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. PRAS40 hyperexpression promotes hepatocarcinogenesis. Qi Z, et al. EBioMedicine, 2020 Jan. PMID 31901857, Free PMC Article
  2. PRAS40 suppresses atherogenesis through inhibition of mTORC1-dependent pro-inflammatory signaling in endothelial cells. Zhang KS, et al. Sci Rep, 2019 Nov 14. PMID 31728028, Free PMC Article
  3. PRAS40 Connects Microenvironmental Stress Signaling to Exosome-Mediated Secretion. Guo J, et al. Mol Cell Biol, 2017 Oct 1. PMID 28674187, Free PMC Article
  4. Uric acid priming in human monocytes is driven by the AKT-PRAS40 autophagy pathway. CriĹźan TO, et al. Proc Natl Acad Sci U S A, 2017 May 23. PMID 28484006, Free PMC Article
  5. Proline-rich AKT substrate of 40-kDa (PRAS40) in the pathophysiology of cancer. Malla R, et al. Biochem Biophys Res Commun, 2015 Jul 31. PMID 26003731

See all (81) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PGK1 represses autophagy-mediated cell death to promote the proliferation of liver cancer cells by phosphorylating PRAS40.
    Title: PGK1 represses autophagy-mediated cell death to promote the proliferation of liver cancer cells by phosphorylating PRAS40.
  2. PRAS40 Phosphorylation Correlates with Insulin-Like Growth Factor-1 Receptor-Induced Resistance to Epidermal Growth Factor Receptor Inhibition in Head and Neck Cancer Cells.
    Title: PRAS40 Phosphorylation Correlates with Insulin-Like Growth Factor-1 Receptor-Induced Resistance to Epidermal Growth Factor Receptor Inhibition in Head and Neck Cancer Cells.
  3. M2-polarized tumor-associated macrophages promote epithelial-mesenchymal transition via activation of the AKT3/PRAS40 signaling pathway in intrahepatic cholangiocarcinoma.
    Title: M2-polarized tumor-associated macrophages promote epithelial-mesenchymal transition via activation of the AKT3/PRAS40 signaling pathway in intrahepatic cholangiocarcinoma.
  4. Dual Specificity Kinase DYRK3 Promotes Aggressiveness of Glioblastoma by Altering Mitochondrial Morphology and Function.
    Title: Dual Specificity Kinase DYRK3 Promotes Aggressiveness of Glioblastoma by Altering Mitochondrial Morphology and Function.
  5. PRAS40 suppresses atherogenesis through inhibition of mTORC1-dependent pro-inflammatory signaling in endothelial cells.
    Title: PRAS40 suppresses atherogenesis through inhibition of mTORC1-dependent pro-inflammatory signaling in endothelial cells.
  6. PRAS40 hyperexpression promotes hepatocarcinogenesis.
    Title: PRAS40 hyperexpression promotes hepatocarcinogenesis.
  7. MELK is Upregulated in Advanced Clear Cell Renal Cell Carcinoma and Promotes Disease Progression by Phosphorylating PRAS40.
    Title: MELK is Upregulated in Advanced Clear Cell Renal Cell Carcinoma and Promotes Disease Progression by Phosphorylating PRAS40.
  8. This study, for the first time, links PF4's anti-RNV function to an intracellular signaling molecule PRAS40 and its phosphorylation.
    Title: PF4 antagonizes retinal neovascularization via inhibiting PRAS40 phosphorylation in a mouse model of oxygen-induced retinopathy.
  9. ROS act in concert with BLM to facilitate Prostate cancer (PC) oncogenesis, potentially via further enhancing AKT signaling and downregulating PTEN expression. Importantly, inhibiting the BLM-AKT-PRAS40 axis induced PC cell apoptosis.
    Title: Bloom Syndrome Protein Activates AKT and PRAS40 in Prostate Cancer Cells.
  10. The Akt-PRAS40 pathway is activated by uric acid, which inhibits autophagy and recapitulates the uric acid-induced proinflammatory cytokine phenotype.
    Title: Uric acid priming in human monocytes is driven by the AKT-PRAS40 autophagy pathway.
Submit: New GeneRIF Correction See all GeneRIFs (35)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: PNKP

Homology

Clone Names

  • MGC2865

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein serine/threonine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of TOR signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of TORC1 signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cell size IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neurotrophin TRK receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of TORC1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
proline-rich AKT1 substrate 1
Names
40 kDa proline-rich AKT substrate
AKT1 substrate 1 (proline rich)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001098632.2 → NP_001092102.1  proline-rich AKT1 substrate 1 isoform b

    See identical proteins and their annotated locations for NP_001092102.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 encode the same isoform (b).
    Source sequence(s)
    AC118341, BC051844, DA005259
    Consensus CDS
    CCDS12784.1
    UniProtKB/Swiss-Prot
    A8MTQ1, B2RE93, J3KPM3, Q96B36, Q96BI4, Q96IK7, Q96NG2, Q9BWR5
    Related
    ENSP00000375708.3, ENST00000391832.7
    Conserved Domains (1) summary
    pfam15798
    Location:127 → 251
    PRAS; Proline-rich AKT1 substrate 1

  2. NM_001098633.4 → NP_001092103.1  proline-rich AKT1 substrate 1 isoform b

    See identical proteins and their annotated locations for NP_001092103.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 encode the same isoform (b).
    Source sequence(s)
    BC051844, DA848626
    Consensus CDS
    CCDS12784.1
    UniProtKB/Swiss-Prot
    A8MTQ1, B2RE93, J3KPM3, Q96B36, Q96BI4, Q96IK7, Q96NG2, Q9BWR5
    Related
    ENSP00000341698.5, ENST00000344175.10
    Conserved Domains (1) summary
    pfam15798
    Location:127 → 251
    PRAS; Proline-rich AKT1 substrate 1

  3. NM_001278159.2 → NP_001265088.1  proline-rich AKT1 substrate 1 isoform b

    See identical proteins and their annotated locations for NP_001265088.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 encode the same isoform (b).
    Source sequence(s)
    AK055511, BC051844
    Consensus CDS
    CCDS12784.1
    UniProtKB/Swiss-Prot
    A8MTQ1, B2RE93, J3KPM3, Q96B36, Q96BI4, Q96IK7, Q96NG2, Q9BWR5
    Related
    ENSP00000375707.1, ENST00000391831.5
    Conserved Domains (1) summary
    pfam15798
    Location:127 → 251
    PRAS; Proline-rich AKT1 substrate 1

  4. NM_001278160.2 → NP_001265089.1  proline-rich AKT1 substrate 1 isoform b

    See identical proteins and their annotated locations for NP_001265089.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, 4, and 5 encode the same isoform (b).
    Source sequence(s)
    BC051844, DA476468
    Consensus CDS
    CCDS12784.1
    UniProtKB/Swiss-Prot
    A8MTQ1, B2RE93, J3KPM3, Q96B36, Q96BI4, Q96IK7, Q96NG2, Q9BWR5
    Related
    ENSP00000375710.2, ENST00000391834.6
    Conserved Domains (1) summary
    pfam15798
    Location:127 → 251
    PRAS; Proline-rich AKT1 substrate 1

  5. NM_032375.5 → NP_115751.3  proline-rich AKT1 substrate 1 isoform a

    See identical proteins and their annotated locations for NP_115751.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC118341, AK123687, DA005259
    Consensus CDS
    CCDS59410.1
    UniProtKB/Swiss-Prot
    Q96B36
    Related
    ENSP00000375711.1, ENST00000391835.1
    Conserved Domains (1) summary
    pfam15798
    Location:147 → 271
    PRAS; Proline-rich AKT1 substrate 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    49869033..49878356 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    52869170..52878493 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96B36.1 GenPept UniProtKB/Swiss-Prot:Q96B36

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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