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SESN1 sestrin 1 [ Homo sapiens (human) ]

Gene ID: 27244, updated on 11-Apr-2024

Summary

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Official Symbol
SESN1provided by HGNC
Official Full Name
sestrin 1provided by HGNC
Primary source
HGNC:HGNC:21595
See related
Ensembl:ENSG00000080546 MIM:606103; AllianceGenome:HGNC:21595
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PA26; SEST1
Summary
This gene encodes a member of the sestrin family. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Expression
Ubiquitous expression in testis (RPKM 26.4), ovary (RPKM 22.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
6q21
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (108984309..109094846, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110161725..110272953, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (109305512..109416049, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene armadillo repeat containing 2 Neighboring gene ATP synthase subunit f, mitochondrial-like Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:109241738-109242648 Neighboring gene ARMC2 antisense RNA 1 Neighboring gene ATP synthase membrane subunit f pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109266564-109267120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109272427-109272928 Neighboring gene MPRA-validated peak6016 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24919 Neighboring gene Sharpr-MPRA regulatory region 5156 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:109367051-109367618 Neighboring gene RNA, U6 small nuclear 653, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24921 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:109422661-109423052 Neighboring gene centrosomal protein 57 like 1 Neighboring gene coiled-coil domain containing 162, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109515122-109515622 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:109562791-109563990 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:109572150-109572928 Neighboring gene uncharacterized LOC124901374

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. SESN1 attenuates the Ox‑LDL‑induced inflammation, apoptosis and endothelial‑mesenchymal transition of human umbilical vein endothelial cells by regulating AMPK/SIRT1/LOX1 signaling. Gao F, et al. Mol Med Rep, 2022 May. PMID 35293601, Free PMC Article
  2. Serum Sestrin-1 Concentration Is Higher in Frail than Non-Frail Older People Living in Nursing Homes. Sanz B, et al. Int J Environ Res Public Health, 2022 Jan 19. PMID 35162104, Free PMC Article
  3. Sestrins are differentially expressed with age in the skeletal muscle of men: A cross-sectional analysis. Zeng N, et al. Exp Gerontol, 2018 Sep. PMID 29751091
  4. Gene expression following ionising radiation: identification of biomarkers for dose estimation and prediction of individual response. Kabacik S, et al. Int J Radiat Biol, 2011 Feb. PMID 21067298
  5. Regulation of protein synthesis by ionizing radiation. Braunstein S, et al. Mol Cell Biol, 2009 Nov. PMID 19704005, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Metformin Caused Radiosensitivity of Breast Cancer Cells through the Expression Modulation of miR-21-5p/SESN1axis.
    Title: Metformin Caused Radiosensitivity of Breast Cancer Cells through the Expression Modulation of miR-21-5p/SESN1axis.
  2. SESN1 is a FOXO3 effector that counteracts human skeletal muscle ageing.
    Title: SESN1 is a FOXO3 effector that counteracts human skeletal muscle ageing.
  3. SESN1 attenuates the OxLDLinduced inflammation, apoptosis and endothelialmesenchymal transition of human umbilical vein endothelial cells by regulating AMPK/SIRT1/LOX1 signaling.
    Title: SESN1 attenuates the Ox‑LDL‑induced inflammation, apoptosis and endothelial‑mesenchymal transition of human umbilical vein endothelial cells by regulating AMPK/SIRT1/LOX1 signaling.
  4. SESN1, negatively regulated by miR-377-3p, suppresses invasive growth of head and neck squamous cell carcinoma by interaction with SMAD3.
    Title: SESN1, negatively regulated by miR-377-3p, suppresses invasive growth of head and neck squamous cell carcinoma by interaction with SMAD3.
  5. The functions and roles of sestrins in regulating human diseases.
    Title: The functions and roles of sestrins in regulating human diseases.
  6. Serum Sestrin-1 Concentration Is Higher in Frail than Non-Frail Older People Living in Nursing Homes.
    Title: Serum Sestrin-1 Concentration Is Higher in Frail than Non-Frail Older People Living in Nursing Homes.
  7. Integrating Mouse and Human Genetic Data to Move beyond GWAS and Identify Causal Genes in Cholesterol Metabolism.
    Title: Integrating Mouse and Human Genetic Data to Move beyond GWAS and Identify Causal Genes in Cholesterol Metabolism.
  8. Inhibition of sestrin 1 alleviates polycystic ovary syndrome by decreasing autophagy.
    Title: Inhibition of sestrin 1 alleviates polycystic ovary syndrome by decreasing autophagy.
  9. Circulating Sestrin Levels Are Increased in Hypertension Patients.
    Title: Circulating Sestrin Levels Are Increased in Hypertension Patients.
  10. Sestrin expression decreases during inactivity and its genetic deficiency exacerbates muscle wasting; conversely, sestrin overexpression suffices to prevent atrophy. This protection occurs through mTORC1 inhibition, which upregulates autophagy, and AKT activation, which in turn inhibits FoxO-regulated ubiquitin-proteasome-mediated proteolysis. Sestrin protects muscles against aging-induced atrophy(sarcopenia).
    Title: Sestrin prevents atrophy of disused and aging muscles by integrating anabolic and catabolic signals.
Submit: New GeneRIF Correction See all GeneRIFs (20)

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

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

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

Homology

Clone Names

  • MGC138241, MGC142129

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-leucine binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables L-leucine binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables oxidoreductase activity, acting on peroxide as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular oxidant detoxification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to L-leucine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to amino acid starvation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to glucose starvation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to leucine starvation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of macroautophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of response to reactive oxygen species IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of GATOR2 complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
sestrin-1
Names
p53 activated gene 26
p53 regulated PA26 nuclear protein
NP_001186862.1
NP_001186863.1
NP_055269.1

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.

Genomic

  1. NG_029518.2 RefSeqGene

    Range
    5001..115538
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199933.2 → NP_001186862.1  sestrin-1 isoform 2

    See identical proteins and their annotated locations for NP_001186862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF033120, AL390208, BI549226, BU740021
    Consensus CDS
    CCDS56445.1
    UniProtKB/Swiss-Prot
    Q2M2B7, Q5T316, Q9NV00, Q9UPD5, Q9Y6P5, Q9Y6P6
    UniProtKB/TrEMBL
    A8K3D6
    Related
    ENSP00000349061.7, ENST00000356644.7
    Conserved Domains (1) summary
    pfam04636
    Location:47 → 491
    PA26; PA26 p53-induced protein (sestrin)

  2. NM_001199934.2 → NP_001186863.1  sestrin-1 isoform 3

    See identical proteins and their annotated locations for NP_001186863.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF033121, AL390208, BU740021
    Consensus CDS
    CCDS56444.1
    UniProtKB/TrEMBL
    A8K3D6
    Related
    ENSP00000306734.2, ENST00000302071.6
    Conserved Domains (1) summary
    pfam04636
    Location:1 → 425
    PA26; PA26 p53-induced protein (sestrin)

  3. NM_014454.3 → NP_055269.1  sestrin-1 isoform 1

    See identical proteins and their annotated locations for NP_055269.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF033122, AL355305, AL390208
    Consensus CDS
    CCDS5070.1
    UniProtKB/TrEMBL
    A8K292
    Related
    ENSP00000393762.2, ENST00000436639.7
    Conserved Domains (1) summary
    pfam04636
    Location:106 → 550
    PA26; PA26 p53-induced protein (sestrin)

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    108984309..109094846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    110161725..110272953 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y6P5.2 GenPept UniProtKB/Swiss-Prot:Q9Y6P5

Gene LinkOut

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

Chemical Information
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