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    GCN1 GCN1 activator of EIF2AK4 [ Homo sapiens (human) ]

    Gene ID: 10985, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GCN1provided by HGNC
    Official Full Name
    GCN1 activator of EIF2AK4provided by HGNC
    Primary source
    HGNC:HGNC:4199
    See related
    Ensembl:ENSG00000089154 MIM:605614; AllianceGenome:HGNC:4199
    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
    GCN1L; GCN1L1; PRIC295
    Summary
    Enables molecular adaptor activity and stalled ribosome sensor activity. Involved in protein-RNA covalent cross-linking repair. Located in cytosol. Is active in cytosolic ribosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 14.2), thyroid (RPKM 12.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GCN1 in Genome Data Viewer
    Location:
    12q24.23
    Exon count:
    58
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120127202..120194715, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120114374..120181877, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (120565006..120632518, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120540395-120540996 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:120540997-120541598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120541599-120542200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120542201-120542802 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:120547217-120547736 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120547737-120548254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120548255-120548774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7124 Neighboring gene RAB35, member RAS oncogene family Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:120553748-120554540 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:120554541-120555332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4941 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:120555445-120555623 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:120556125-120556916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7129 Neighboring gene RAB35 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7132 Neighboring gene microRNA 4498 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:120622010-120623209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120635999-120636498 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:120636618-120637559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7134 Neighboring gene Sharpr-MPRA regulatory region 12439 Neighboring gene PXN antisense RNA 1 Neighboring gene ribosomal protein lateral stalk subunit P0 Neighboring gene paxillin

    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. Emerging Role of GCN1 in Disease and Homeostasis. Tatara Y, et al. Int J Mol Sci, 2024 Mar 5. PMID 38474243, Free PMC Article
    2. Interactome analysis of herpes simplex virus 1 envelope glycoprotein H. Hirohata Y, et al. Microbiol Immunol, 2015 Jun. PMID 25808324
    3. Perturbations in actin dynamics reconfigure protein complexes that modulate GCN2 activity and promote an eIF2 response. Silva RC, et al. J Cell Sci, 2016 Dec 15. PMID 27852836
    4. Drug-induced eRF1 degradation promotes readthrough and reveals a new branch of ribosome quality control. Gurzeler LA, et al. Cell Rep, 2023 Sep 26. PMID 37651229
    5. The genomic and clinical landscape of fetal akinesia. Pergande M, et al. Genet Med, 2020 Mar. PMID 31680123

    See all (217) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Emerging Role of GCN1 in Disease and Homeostasis.
      Title: Emerging Role of GCN1 in Disease and Homeostasis.
    2. An E3 ligase network engages GCN1 to promote the degradation of translation factors on stalled ribosomes.
      Title: An E3 ligase network engages GCN1 to promote the degradation of translation factors on stalled ribosomes.
    3. The genomic and clinical landscape of fetal akinesia.
      Title: The genomic and clinical landscape of fetal akinesia.
    4. These findings suggest that GCN1 can regulate eIF2alpha phosphorylation in HSV-1-infected cells and that the GCN1-binding viral partner simplexvirus gH is necessary and sufficient to prevent the accumulation of phosphorylated eIF2alpha.
      Title: Interactome analysis of herpes simplex virus 1 envelope glycoprotein H.
    Submit: New GeneRIF Correction

    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)

    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: RPLP0

    Homology

    Clone Names

    • KIAA0219

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables cadherin binding HDA PubMed 
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein kinase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables stalled ribosome sensor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables translation factor activity, RNA binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables ubiquitin-protein transferase regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GCN2-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to amino acid starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein-RNA covalent cross-linking repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in rescue of stalled ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytosolic ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    stalled ribosome sensor GCN1
    Names
    GCN1 (general control of amino-acid synthesis 1, yeast)-like 1
    GCN1 eIF-2-alpha kinase activator homolog
    GCN1 general control of amino-acid synthesis 1-like 1
    GCN1, eIF2 alpha kinase activator homolog
    GCN1-like protein 1
    eIF-2-alpha kinase activator GCN1
    general control of amino-acid synthesis 1-like protein 1
    hsGCN1
    peroxisome proliferator activated receptor interacting complex protein
    translational activator GCN1

    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_006836.2 → NP_006827.1  stalled ribosome sensor GCN1

      See identical proteins and their annotated locations for NP_006827.1

      Status: VALIDATED

      Source sequence(s)
      AC004263, AC004812, BC021129, BQ929459, BU186578, D86973, U88837
      Consensus CDS
      CCDS41847.1
      UniProtKB/Swiss-Prot
      A8KAY1, O95001, O95651, Q6P2S3, Q86X65, Q8N5I5, Q8WU80, Q92616, Q99736, Q9UE60
      UniProtKB/TrEMBL
      E1NZA1
      Related
      ENSP00000300648.6, ENST00000300648.7
      Conserved Domains (4) summary
      cd00020
      Location:1498 → 1601
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam12074
      Location:357 → 705
      DUF3554; Domain of unknown function (DUF3554)
      pfam13646
      Location:1616 → 1721
      HEAT_2; HEAT repeats
      sd00044
      Location:1461 → 1485
      HEAT; HEAT repeat [structural motif]

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      120127202..120194715 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      120114374..120181877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92616.7 GenPept UniProtKB/Swiss-Prot:Q92616

    Gene LinkOut

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

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