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SESN1 sestrin 1 [ Homo sapiens (human) ]

Gene ID: 27244, updated on 21-Dec-2019

Summary

Official Symbol
SESN1provided by HGNC
Official Full Name
sestrin 1provided by HGNC
Primary source
HGNC:HGNC:21595
See related
Ensembl:ENSG00000080546 MIM:606103
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

Genomic context

See SESN1 in Genome Data Viewer
Location:
6q21
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (108984309..109094846, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (109307640..109415708, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene armadillo repeat containing 2 Neighboring gene ARMC2 antisense RNA 1 Neighboring gene ATP synthase membrane subunit f pseudogene 2 Neighboring gene RNA, U6 small nuclear 653, pseudogene Neighboring gene centrosomal protein 57 like 1 Neighboring gene coiled-coil domain containing 162, pseudogene Neighboring gene patched domain containing 3 pseudogene 3 Neighboring gene RNY3 pseudogene 11

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138241, MGC142129

Gene Ontology Provided by GOA

Function Evidence Code Pubs
leucine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leucine binding IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity, acting on peroxide as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxiredoxin activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular oxidant detoxification IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to amino acid starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to amino acid stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to glucose starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to leucine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to leucine starvation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of macroautophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of response to reactive oxygen species IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with GATOR2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with GATOR2 complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with TORC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_029518.1 RefSeqGene

    Range
    5001..113069
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199933.1NP_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
    Q9Y6P5
    Related
    ENSP00000349061.7, ENST00000356644.7
    Conserved Domains (1) summary
    pfam04636
    Location:47491
    PA26; PA26 p53-induced protein (sestrin)
  2. NM_001199934.1NP_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/Swiss-Prot
    Q9Y6P5
    Related
    ENSP00000306734.2, ENST00000302071.6
    Conserved Domains (1) summary
    pfam04636
    Location:2425
    PA26; PA26 p53-induced protein (sestrin)
  3. NM_014454.3NP_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/Swiss-Prot
    Q9Y6P5
    Related
    ENSP00000393762.2, ENST00000436639.6
    Conserved Domains (1) summary
    pfam04636
    Location:106550
    PA26; PA26 p53-induced protein (sestrin)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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