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Aliases for GCN1 Gene

Aliases for GCN1 Gene

  • GCN1, EIF2 Alpha Kinase Activator Homolog 2 3 5
  • GCN1 (General Control Of Amino-Acid Synthesis 1, Yeast)-Like 1 2 3
  • General Control Of Amino-Acid Synthesis 1-Like Protein 1 3 4
  • GCN1 EIF-2-Alpha Kinase Activator Homolog 3 4
  • Translational Activator GCN1 3 4
  • GCN1-Like Protein 1 3 4
  • HsGCN1 3 4
  • GCN1L1 3 4
  • Peroxisome Proliferator Activated Receptor Interacting Complex Protein 3
  • GCN1 General Control Of Amino-Acid Synthesis 1-Like 1 (Yeast) 2
  • GCN1 General Control Of Amino-Acid Synthesis 1-Like 1 3
  • EIF-2-Alpha Kinase Activator GCN1 3
  • KIAA0219 4
  • PRIC295 3
  • GCN1L 3

External Ids for GCN1 Gene

Previous HGNC Symbols for GCN1 Gene

  • GCN1L1

Summaries for GCN1 Gene

GeneCards Summary for GCN1 Gene

GCN1 (GCN1, EIF2 Alpha Kinase Activator Homolog) is a Protein Coding gene. Diseases associated with GCN1 include Neuroblastoma.

UniProtKB/Swiss-Prot for GCN1 Gene

  • Acts as a positive activator of the EIF2AK4/GCN2 protein kinase activity in response to amino acid starvation. Forms a complex with EIF2AK4/GCN2 on translating ribosomes; during this process, GCN1 seems to act as a chaperone to facilitate delivery of uncharged tRNAs that enter the A site of ribosomes to the tRNA-binding domain of EIF2AK4/GCN2, and hence stimulating EIF2AK4/GCN2 kinase activity. Participates in the repression of global protein synthesis and in gene-specific mRNA translation activation, such as the transcriptional activator ATF4, by promoting the EIF2AK4/GCN2-mediated phosphorylation of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on Ser-52, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion.

Gene Wiki entry for GCN1 Gene

Additional gene information for GCN1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCN1 Gene

Genomics for GCN1 Gene

GeneHancer (GH) Regulatory Elements for GCN1 Gene

Promoters and enhancers for GCN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J120193 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 682.6 -0.7 -724 4.1 HDGF ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF213 E2F8 GCN1 GC12M120197 RPL31P52 PXN-AS1 SIRT4 RPLP0
GH12J120290 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 146.1 -97.5 -97520 3.4 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SIRT4 GC12M120292 GC12M120294 RNU4-1 RNU4-2 GCN1 RAB35 PXN RPL31P52 PRKAB1
GH12J120198 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 88.1 -5.7 -5741 4.2 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 GLIS1 PXN-AS1 RPLP0 GCN1 RAB35 RPL31P52 SRSF9 PRKAB1 ENSG00000256695 RPL12P33 LOC105370025
GH12J120528 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 67.9 -334.7 -334716 2.5 ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D ZNF610 COQ5 ANAPC5 GCN1 RPL31P52 UNC119B PRKAB1 GATC ENSG00000256695 RPL12P33 ENSG00000256963
GH12J120115 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 37 +75.7 75675 7.5 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 RAB35 GCN1 RPL31P52 PXN-AS1 RPLP0 PRKAB1 PXN COQ5 ENSG00000277283 MIR4498
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GCN1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for GCN1 Gene

Genomic Locations for GCN1 Gene
chr12:120,127,203-120,194,710
(GRCh38/hg38)
Size:
67,508 bases
Orientation:
Minus strand
chr12:120,565,007-120,632,513
(GRCh37/hg19)
Size:
67,507 bases
Orientation:
Minus strand

Genomic View for GCN1 Gene

Genes around GCN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCN1 Gene

Proteins for GCN1 Gene

  • Protein details for GCN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92616-GCN1_HUMAN
    Recommended name:
    eIF-2-alpha kinase activator GCN1
    Protein Accession:
    Q92616
    Secondary Accessions:
    • A8KAY1
    • O95001
    • O95651
    • Q6P2S3
    • Q86X65
    • Q8N5I5
    • Q8WU80
    • Q99736
    • Q9UE60

    Protein attributes for GCN1 Gene

    Size:
    2671 amino acids
    Molecular mass:
    292758 Da
    Quaternary structure:
    • Interacts with EIF2AK4/GCN2; this interaction stimulates the EIF2AK4/GCN2 kinase activity and is impaired by IMPACT upon a variety of stress conditions, such as amino acid depletion, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Interacts with IMPACT; this prevents the interaction of GCN1 with EIF2AK4/GCN2 and inhibits EIF2AK4/GCN2 kinase activity.
    SequenceCaution:
    • Sequence=AAC51648.1; Type=Frameshift; Positions=2657; Evidence={ECO:0000305}; Sequence=AAC83183.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA13209.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for GCN1 Gene

Post-translational modifications for GCN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GCN1 Gene

Domains & Families for GCN1 Gene

Gene Families for GCN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GCN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92616

UniProtKB/Swiss-Prot:

GCN1_HUMAN :
  • Belongs to the GCN1 family.
Family:
  • Belongs to the GCN1 family.
genes like me logo Genes that share domains with GCN1: view

Function for GCN1 Gene

Molecular function for GCN1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a positive activator of the EIF2AK4/GCN2 protein kinase activity in response to amino acid starvation. Forms a complex with EIF2AK4/GCN2 on translating ribosomes; during this process, GCN1 seems to act as a chaperone to facilitate delivery of uncharged tRNAs that enter the A site of ribosomes to the tRNA-binding domain of EIF2AK4/GCN2, and hence stimulating EIF2AK4/GCN2 kinase activity. Participates in the repression of global protein synthesis and in gene-specific mRNA translation activation, such as the transcriptional activator ATF4, by promoting the EIF2AK4/GCN2-mediated phosphorylation of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on Ser-52, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion.

Phenotypes From GWAS Catalog for GCN1 Gene

Gene Ontology (GO) - Molecular Function for GCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005488 binding IEA --
GO:0008135 translation factor activity, RNA binding NAS 9234705
GO:0019887 protein kinase regulator activity IEA --
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with GCN1: view
genes like me logo Genes that share phenotypes with GCN1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GCN1 Gene

Localization for GCN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCN1 Gene

Cytoplasm. Note=Associates with ribosomes in undifferentiated neuroblastoma cells and increases after neuronal differentiation. {ECO:0000250 UniProtKB:E9PVA8}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GCN1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 9234705
GO:0005829 cytosol IDA --
GO:0005840 ribosome NAS 9234705
GO:0005844 polysome ISS,IEA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with GCN1: view

Pathways & Interactions for GCN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006417 regulation of translation IEA --
GO:0033554 cellular response to stress IEA --
GO:0033674 positive regulation of kinase activity IEA --
GO:0034198 cellular response to amino acid starvation IEA,ISS --
genes like me logo Genes that share ontologies with GCN1: view

No data available for Pathways by source and SIGNOR curated interactions for GCN1 Gene

Drugs & Compounds for GCN1 Gene

No Compound Related Data Available

Transcripts for GCN1 Gene

mRNA/cDNA for GCN1 Gene

(1) REFSEQ mRNAs :
(10) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GCN1 Gene

No ASD Table

Relevant External Links for GCN1 Gene

GeneLoc Exon Structure for
GCN1
ECgene alternative splicing isoforms for
GCN1

Expression for GCN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GCN1 Gene:

GCN1

mRNA Expression by UniProt/SwissProt for GCN1 Gene:

Q92616-GCN1_HUMAN
Tissue specificity: Ubiquitously expressed (PubMed:9039502). Expressed in skeletal muscules, ovary and testis (PubMed:9234705).

Evidence on tissue expression from TISSUES for GCN1 Gene

  • Liver(4.8)
  • Skin(4.5)
  • Nervous system(4.4)
  • Muscle(4.3)
  • Adrenal gland(3.4)
  • Heart(2.9)
  • Eye(2.8)
  • Pancreas(2.6)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GCN1 Gene

Orthologs for GCN1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GCN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCN1L1 34 33
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GCN1L1 34 33
  • 90.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GCN1L1 34 33
  • 90.57 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GCN1L1 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gcn1l1 33
  • 87.76 (n)
mouse
(Mus musculus)
Mammalia Gcn1l1 16 34 33
  • 87.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GCN1L1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCN1L1 34 33
  • 76.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCN1L1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcn1l1 33
  • 72.35 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6112 33
zebrafish
(Danio rerio)
Actinopterygii gcn1l1 34 33
  • 69.2 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001700 33
  • 54.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17514 34 33
  • 47.39 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gcn-1 34 33
  • 46.62 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN1 36 34 33
  • 45.09 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12430g 33
  • 44.6 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR169W 33
  • 44.37 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ILA 33
  • 44.83 (n)
rice
(Oryza sativa)
Liliopsida Os03g0721200 33
  • 49.62 (n)
Os.15153 33
bread mold
(Neurospora crassa)
Ascomycetes NCU05803 33
  • 48.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC18G6.05c 33
  • 42.69 (n)
Species where no ortholog for GCN1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GCN1 Gene

ENSEMBL:
Gene Tree for GCN1 (if available)
TreeFam:
Gene Tree for GCN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GCN1: view image

Paralogs for GCN1 Gene

No data available for Paralogs for GCN1 Gene

Variants for GCN1 Gene

Sequence variations from dbSNP and Humsavar for GCN1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000006581 -- 120,169,455(-) C/G intron_variant
rs1000091328 -- 120,130,028(-) C/T intron_variant
rs1000096357 -- 120,184,303(-) G/A intron_variant
rs1000165176 -- 120,181,696(-) G/A intron_variant
rs1000166193 -- 120,133,177(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GCN1 Gene

Variant ID Type Subtype PubMed ID
nsv1144656 CNV deletion 24896259
nsv519657 CNV loss 19592680
nsv560433 CNV loss 21841781
nsv832530 CNV loss 17160897
nsv904 CNV insertion 18451855

Variation tolerance for GCN1 Gene

Residual Variation Intolerance Score: 0.271% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.74; 57.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GCN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCN1 Gene

Disorders for GCN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GCN1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search GCN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GCN1

genes like me logo Genes that share disorders with GCN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GCN1 Gene

Publications for GCN1 Gene

  1. Evidence that GCN1 and GCN20, translational regulators of GCN4, function on elongating ribosomes in activation of eIF2alpha kinase GCN2. (PMID: 9234705) Marton MJ … Hinnebusch AG (Molecular and cellular biology 1997) 2 3 4 22 58
  2. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4 58
  5. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 3 4 58

Products for GCN1 Gene

Sources for GCN1 Gene

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