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    SELENOH selenoprotein H [ Homo sapiens (human) ]

    Gene ID: 280636, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SELENOHprovided by HGNC
    Official Full Name
    selenoprotein Hprovided by HGNC
    Primary source
    HGNC:HGNC:18251
    See related
    Ensembl:ENSG00000211450 MIM:607914; AllianceGenome:HGNC:18251
    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
    SELH; C11orf31; C17orf10
    Summary
    This gene encodes a nucleolar protein, which belongs to the SelWTH family. It functions as an oxidoreductase, and has been shown to protect neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, promote mitochondrial biogenesis and mitochondrial function, and suppress cellular senescence through genome maintenance and redox regulation. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2016]
    Expression
    Ubiquitous expression in adrenal (RPKM 17.7), spleen (RPKM 16.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SELENOH in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57741491..57743550)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57691821..57693880)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57508963..57511022)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:57471607-57472806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3357 Neighboring gene TMX2-CTNND1 readthrough (NMD candidate) Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:57483025-57483535 Neighboring gene mediator complex subunit 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57492459-57492960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57492961-57493460 Neighboring gene peptidylprolyl isomerase A pseudogene 42 Neighboring gene thioredoxin related transmembrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4731 Neighboring gene BTB domain containing 18 Neighboring gene catenin delta 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:57546031-57546233 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57546189-57547075 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57547076-57547961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57551728-57552228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4732 Neighboring gene Sharpr-MPRA regulatory region 6223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4733 Neighboring gene olfactory receptor family 5 subfamily BA member 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Characterization of structural and functional role of selenocysteine in selenoprotein H and its impact on DNA binding. Barage SH, et al. Amino Acids, 2018 May. PMID 29480333
    2. Overexpression of selenoprotein H reduces Ht22 neuronal cell death after UVB irradiation by preventing superoxide formation. Ben Jilani KE, et al. Int J Biol Sci, 2007 Feb 11. PMID 17389926, Free PMC Article
    3. Selenoprotein H is a redox-sensing high mobility group family DNA-binding protein that up-regulates genes involved in glutathione synthesis and phase II detoxification. Panee J, et al. J Biol Chem, 2007 Aug 17. PMID 17526492
    4. Overexpression of human selenoprotein H in neuronal cells ameliorates ultraviolet irradiation-induced damage by modulating cell signaling pathways. Mendelev N, et al. Exp Neurol, 2009 Dec. PMID 19766117, Free PMC Article
    5. Upregulation of human selenoprotein H in murine hippocampal neuronal cells promotes mitochondrial biogenesis and functional performance. Mendelev N, et al. Mitochondrion, 2011 Jan. PMID 20656065, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of Selenoprotein H Isoforms and Impact of Selenoprotein H Overexpression on Protein But Not mRNA Levels of 2 Other Selenoproteins in 293T Cells.
      Title: Identification of Selenoprotein H Isoforms and Impact of Selenoprotein H Overexpression on Protein But Not mRNA Levels of 2 Other Selenoproteins in 293T Cells.
    2. The high levels of SELENOH in tumors as well as in undifferentiated, proliferative cells together with its inhibitory effects on proliferation and G1/S phase transition suggest SELENOH as a key regulator for cell cycle progression and for prevention of uncontrolled proliferation
      Title: Selenoprotein H controls cell cycle progression and proliferation of human colorectal cancer cells.
    3. the obtained results clearly illustrate Sec residue plays an important role to restore functionally active conformation of SELENOH. The present study broadened our current understanding regarding the role of selenocysteine in protein structure and function.
      Title: Characterization of structural and functional role of selenocysteine in selenoprotein H and its impact on DNA binding.
    4. Transcriptome analysis revealed that SepH deficiency induces an inflammatory response and activates the p53 pathway. Consequently, loss of seph renders larvae susceptible to oxidative stress and DNA damage. Finally, we demonstrate that seph interacts with p53 deficiency in adulthood to accelerate gastrointestinal tumor development
      Title: Selenoprotein H is an essential regulator of redox homeostasis that cooperates with p53 in development and tumorigenesis.
    5. Selenoprotein H suppresses cellular senescence through genome maintenance and redox regulation.
      Title: Selenoprotein H suppresses cellular senescence through genome maintenance and redox regulation.
    6. We conclude that the effects of selenoprotein H on mitochondrial biogenesis and mitochondrial function are probably mediated through protein kinase A-CREB-PGC-1alpha and Akt/protein kinase B-CREB-PGC-1alpha pathways.
      Title: Overexpression of human selenoprotein H in neuronal cells enhances mitochondrial biogenesis and function through activation of protein kinase A, protein kinase B, and cyclic adenosine monophosphate response element-binding protein pathway.
    7. Overexpression of SelH promotes mitochondrial biogenesis and improves mitochondrial functional performance.
      Title: Upregulation of human selenoprotein H in murine hippocampal neuronal cells promotes mitochondrial biogenesis and functional performance.
    8. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    9. t SelH protects neurons against UVB-induced damage by inhibiting apoptotic cell death pathways
      Title: Overexpression of human selenoprotein H in neuronal cells ameliorates ultraviolet irradiation-induced damage by modulating cell signaling pathways.
    10. selenoprotein H is a redox-responsive DNA-binding protein of the AT-hook family and functions in regulating expression levels of genes involved in de novo glutathione synthesis and phase II detoxification in response to redox status.
      Title: Selenoprotein H is a redox-sensing high mobility group family DNA-binding protein that up-regulates genes involved in glutathione synthesis and phase II detoxification.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    selenoprotein H

    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_001321335.2 → NP_001308264.1  selenoprotein H

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate donor splice site at the penultimate exon in the 3' non-coding region compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF085883, BG714263, BX493234
      Consensus CDS
      CCDS44602.1
      UniProtKB/Swiss-Prot
      Q8IZQ5, Q8N672
      Conserved Domains (1) summary
      TIGR02174
      Location:36 → 119
      CXXU_selWTH; selT/selW/selH selenoprotein domain

    2. NM_170746.4 → NP_734467.1  selenoprotein H

      See identical proteins and their annotated locations for NP_734467.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF085883, AF536829
      Consensus CDS
      CCDS44602.1
      UniProtKB/Swiss-Prot
      Q8IZQ5, Q8N672
      Related
      ENSP00000434511.1, ENST00000534355.6
      Conserved Domains (1) summary
      TIGR02174
      Location:36 → 119
      CXXU_selWTH; selT/selW/selH selenoprotein domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      57741491..57743550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      57691821..57693880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZQ5.2 GenPept UniProtKB/Swiss-Prot:Q8IZQ5

    Gene LinkOut

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

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