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    AKT1S1 AKT1 substrate 1 [ Homo sapiens (human) ]

    Gene ID: 84335, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49869033..49878356, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52869170..52878493, complement)
    RS_2024_09 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 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. Expression of proline-rich Akt-substrate PRAS40 in cell survival pathway and carcinogenesis. Huang B, et al. Acta Pharmacol Sin, 2005 Oct. PMID 16174443
    2. Over-expression of PRAS40 enhances insulin sensitivity in skeletal muscle. Wiza C, et al. Arch Physiol Biochem, 2014 May. PMID 24576065
    3. Inactivating frameshift mutation of AKT1S1, an mTOR inhibitory gene, in colorectal cancers. Choi MR, et al. Scand J Gastroenterol, 2015 Apr. PMID 25648575
    4. 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
    5. PRAS40 is a functionally critical target for EWS repression in Ewing sarcoma. Huang L, et al. Cancer Res, 2012 Mar 1. PMID 22241085

    See all (83) 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 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_2024_08

    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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