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Aliases for CASTOR1 Gene

Aliases for CASTOR1 Gene

  • Cytosolic Arginine Sensor For MTORC1 Subunit 1 2 3
  • GATS Protein Like 3 2 3 5
  • GATSL3 3 4 5
  • Cellular Arginine Sensor For MTORC1 Protein 1 3 4
  • GATS Protein-Like 3 2
  • GATS-Like Protein 3 3

External Ids for CASTOR1 Gene

Previous HGNC Symbols for CASTOR1 Gene

  • GATSL3

Summaries for CASTOR1 Gene

GeneCards Summary for CASTOR1 Gene

CASTOR1 (Cytosolic Arginine Sensor For MTORC1 Subunit 1) is a Protein Coding gene. An important paralog of this gene is CASTOR2.

UniProtKB/Swiss-Prot for CASTOR1 Gene

  • Functions as an intracellular arginine sensor within the amino acid-sensing branch of the TORC1 signaling pathway. As a homodimer or a heterodimer with GATSL2, binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Binding of arginine to GATSL3 allosterically disrupts the interaction of GATSL3-containing dimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASTOR1 Gene

Genomics for CASTOR1 Gene

Regulatory Elements for CASTOR1 Gene

Enhancers for CASTOR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G030300 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.4 -21.4 -21359 20.9 HDGF PKNOX1 ARNT SIN3A ZBTB7B YY1 FOS ZNF263 JUNB REST RNF215 CASTOR1 CCDC157 SEC14L3 SEC14L2 MTMR3 LIF TBC1D10A SF3A1 ENSG00000248751
GH22G030322 1.6 FANTOM5 ENCODE dbSUPER 20.2 -37.3 -37293 8.0 HDGF PKNOX1 WRNIP1 ARID4B SIN3A YY1 TCF12 GLIS2 SP3 SP5 RNF215 CCDC157 CASTOR1 SEC14L3 SF3A1 ENSG00000248751 SEC14L2 ENSG00000249590 LIF OSM
GH22G030390 1.4 Ensembl ENCODE dbSUPER 21.1 -101.8 -101817 1.4 ELF3 CBX3 ARID4B YBX1 RAD21 ZNF143 FOS MIXL1 THAP11 ZNF654 CASTOR1 TBC1D10A ENSG00000248751 OSM CCDC157 SF3A1 SEC14L3 ENSG00000181123 LIF SEC14L2
GH22G030287 1.3 ENCODE dbSUPER 19.1 -0.5 -531 5.0 HDGF ARNT AGO1 WRNIP1 ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 RNF215 CASTOR1 CCDC157 DUSP18 ENSG00000248751
GH22G030385 0.9 ENCODE 25.8 -97.4 -97370 2.1 HDGF FOXA2 ARNT ARID4B ZNF2 GLIS2 ZNF143 FOS SP3 SP5 CASTOR1 ENSG00000249590 TBC1D10A ENSG00000248751 OSM CCDC157 SF3A1 LIF ENSG00000181123 SEC14L3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASTOR1 on UCSC Golden Path with GeneCards custom track

Promoters for CASTOR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145202 227 1201 HDGF AGO1 WRNIP1 ARID4B SIN3A YY1 GLIS2 ZNF143 KLF13 SP3

Genomic Location for CASTOR1 Gene

Chromosome:
22
Start:
30,285,117 bp from pter
End:
30,289,627 bp from pter
Size:
4,511 bases
Orientation:
Minus strand

Genomic View for CASTOR1 Gene

Genes around CASTOR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASTOR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASTOR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASTOR1 Gene

Proteins for CASTOR1 Gene

  • Protein details for CASTOR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WTX7-GATL3_HUMAN
    Recommended name:
    GATS-like protein 3
    Protein Accession:
    Q8WTX7
    Secondary Accessions:
    • O76052
    • Q96ND9
    • Q9UIE8

    Protein attributes for CASTOR1 Gene

    Size:
    329 amino acids
    Molecular mass:
    36275 Da
    Quaternary structure:
    • Forms homodimers and heterodimers with GATSL2 (PubMed:26972053, PubMed:27487210). Interacts with the GATOR2 complex which is composed of MIOS, SEC13, SEH1L, WDR24 and WDR59; the interaction is negatively regulated by arginine (PubMed:26972053, PubMed:27487210).
    SequenceCaution:
    • Sequence=AAC23432.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAC23433.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB70963.1; Type=Erroneous termination; Positions=310; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=EAW59868.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CASTOR1 Gene

neXtProt entry for CASTOR1 Gene

Post-translational modifications for CASTOR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CASTOR1 Gene

No data available for DME Specific Peptides for CASTOR1 Gene

Domains & Families for CASTOR1 Gene

Protein Domains for CASTOR1 Gene

Suggested Antigen Peptide Sequences for CASTOR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WTX7

UniProtKB/Swiss-Prot:

GATL3_HUMAN :
  • Based on x-ray crystallography data, the protein would be constituted of 4 tandem ACT domains instead of the 2 predicted from the sequence.
  • Belongs to the GATS family.
Domain:
  • Based on x-ray crystallography data, the protein would be constituted of 4 tandem ACT domains instead of the 2 predicted from the sequence.
Family:
  • Belongs to the GATS family.
genes like me logo Genes that share domains with CASTOR1: view

No data available for Gene Families for CASTOR1 Gene

Function for CASTOR1 Gene

Molecular function for CASTOR1 Gene

UniProtKB/Swiss-Prot Function:
Functions as an intracellular arginine sensor within the amino acid-sensing branch of the TORC1 signaling pathway. As a homodimer or a heterodimer with GATSL2, binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Binding of arginine to GATSL3 allosterically disrupts the interaction of GATSL3-containing dimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway.

Gene Ontology (GO) - Molecular Function for CASTOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0034618 arginine binding IDA 26972053
GO:0042802 identical protein binding IDA,IPI 25416956
genes like me logo Genes that share ontologies with CASTOR1: view

Phenotypes for CASTOR1 Gene

MGI mutant phenotypes for CASTOR1:
inferred from 1 alleles
GenomeRNAi human phenotypes for CASTOR1:
genes like me logo Genes that share phenotypes with CASTOR1: view

Animal Models for CASTOR1 Gene

MGI Knock Outs for CASTOR1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CASTOR1 Gene

Localization for CASTOR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASTOR1 Gene

Cytoplasm, cytosol.

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 CASTOR1 gene
Compartment Confidence
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for CASTOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,IDA 26972053
GO:0061700 colocalizes_with GATOR2 complex IDA 26972053
genes like me logo Genes that share ontologies with CASTOR1: view

Pathways & Interactions for CASTOR1 Gene

SuperPathways for CASTOR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CASTOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1903577 cellular response to L-arginine IMP 26972053
GO:1904262 negative regulation of TORC1 signaling IMP 26972053
genes like me logo Genes that share ontologies with CASTOR1: view

No data available for Pathways by source and SIGNOR curated interactions for CASTOR1 Gene

Drugs & Compounds for CASTOR1 Gene

No Compound Related Data Available

Transcripts for CASTOR1 Gene

mRNA/cDNA for CASTOR1 Gene

(1) REFSEQ mRNAs :
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASTOR1 Gene

No ASD Table

Relevant External Links for CASTOR1 Gene

GeneLoc Exon Structure for
CASTOR1
ECgene alternative splicing isoforms for
CASTOR1

Expression for CASTOR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CASTOR1 Gene:

CASTOR1

mRNA Expression by UniProt/SwissProt for CASTOR1 Gene:

Q8WTX7-GATL3_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for CASTOR1 Gene

  • Lung(4.1)
  • Nervous system(2.7)

Primer Products

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 CASTOR1 Gene

Orthologs for CASTOR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CASTOR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GATSL3 34
  • 99.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GATSL3 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GATSL3 34 35
  • 91.49 (n)
dog
(Canis familiaris)
Mammalia GATSL3 34 35
  • 90.27 (n)
mouse
(Mus musculus)
Mammalia Gatsl3 34 16 35
  • 86.48 (n)
rat
(Rattus norvegicus)
Mammalia Gatsl3 34
  • 86.18 (n)
oppossum
(Monodelphis domestica)
Mammalia GATSL3 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves GATSL3 34 35
  • 77.47 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gatsl3 34
  • 67.59 (n)
zebrafish
(Danio rerio)
Actinopterygii gatsl3 34
  • 66.97 (n)
Species where no ortholog for CASTOR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CASTOR1 Gene

ENSEMBL:
Gene Tree for CASTOR1 (if available)
TreeFam:
Gene Tree for CASTOR1 (if available)

Paralogs for CASTOR1 Gene

Paralogs for CASTOR1 Gene

genes like me logo Genes that share paralogs with CASTOR1: view

Variants for CASTOR1 Gene

Sequence variations from dbSNP and Humsavar for CASTOR1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000389680 -- 30,287,670(+) GGGCA(G/T)GTCTG intron-variant
rs1000404870 -- 30,286,064(+) CTCCC(C/T)CGAGG reference, missense
rs1000404940 -- 30,287,955(+) CATTC(A/G)CAGAT intron-variant
rs1001116980 -- 30,290,587(+) AAGGC(A/T)AAGCA upstream-variant-2KB
rs1002474096 -- 30,287,610(+) CCTGC(A/C)CCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASTOR1 Gene

Variant ID Type Subtype PubMed ID
esv2676362 CNV deletion 23128226
nsv1062388 CNV gain 25217958
nsv1110864 OTHER inversion 24896259
nsv522605 CNV loss 19592680
nsv588885 CNV loss 21841781
nsv829171 CNV loss 20364138
nsv834174 CNV gain+loss 17160897

Variation tolerance for CASTOR1 Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.16; 61.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASTOR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASTOR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASTOR1 Gene

Disorders for CASTOR1 Gene

Relevant External Links for CASTOR1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASTOR1

No disorders were found for CASTOR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CASTOR1 Gene

Publications for CASTOR1 Gene

  1. The CASTOR proteins are arginine sensors for the mTORC1 pathway. (PMID: 26972053) Chantranupong L. … Sabatini D.M. (Cell 2016) 2 3 4 64
  2. Mechanism of arginine sensing by CASTOR1 upstream of mTORC1. (PMID: 27487210) Saxton R.A. … Sabatini D.M. (Nature 2016) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for CASTOR1 Gene

Sources for CASTOR1 Gene

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