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Aliases for LAGE3 Gene

Aliases for LAGE3 Gene

  • L Antigen Family Member 3 2 3 4 5
  • Protein ESO-3 3 4
  • DXS9879E 3 4
  • ITBA2 3 4
  • ESO3 3 4
  • DNA Segment On Chromosome X (Unique) 9879 Expressed Sequence 2
  • EKC/KEOPS Complex Subunit LAGE3 3
  • L Antigen Family, Member 3 2
  • Protein ITBA2 4
  • DXS9951E 3
  • CVG5 3
  • Pcc1 3

External Ids for LAGE3 Gene

Previous GeneCards Identifiers for LAGE3 Gene

  • GC0XM153359
  • GC0XM153707
  • GC0XM142282

Summaries for LAGE3 Gene

Entrez Gene Summary for LAGE3 Gene

  • This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008]

GeneCards Summary for LAGE3 Gene

LAGE3 (L Antigen Family Member 3) is a Protein Coding gene. Among its related pathways are tRNA processing and Gene Expression. An important paralog of this gene is CTAG1B.

UniProtKB/Swiss-Prot for LAGE3 Gene

  • Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAGE3 Gene

Genomics for LAGE3 Gene

Regulatory Elements for LAGE3 Gene

Enhancers for LAGE3 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
GH0XF154443 0.5 ENCODE 13.6 +35.0 35031 2.3 SIN3A ZNF155 GLIS2 CREM EGR2 USF2 GLIS1 ZNF341 ZBTB33 PRDM1 FAM50A HCFC1 LAGE3 UBL4A RPL10 PLXNA3 SNORA56 MIR6858
GH0XF154505 0.2 ENCODE 12.9 -26.8 -26824 1.2 BCOR ZNF146 ZNF580 ZMYM3 ZNF24 ZIC2 MAFK FAM3A IKBKG G6PD LAGE3 FAM50A GDI1 ATP6AP1 CH17-340M24.3 RENBP GC0XM154496
GH0XF154480 0.4 ENCODE 0.8 -1.0 -1006 0.1 HDAC1 CTCF ESRRA ATF1 KLF1 SAP130 KLF17 SIN3A ZNF384 ZNF2 GC0XM154482 LAGE3
GH0XF154481 0.2 ENCODE 0.8 -3.5 -3545 1.7 PKNOX1 USF1 ZIC2 ZBTB7A RAD51 GLIS2 POLR2A GLIS1 ZNF341 PRDM10 FAM3A F8A1 GC0XM154482 LAGE3
GH0XF154477 1 ENCODE 0.8 +0.3 318 2.3 ATF1 PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 ZNF2 GLIS2 ZNF143 FAM3A LAGE3 PLXNA3
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around LAGE3 on UCSC Golden Path with GeneCards custom track

Promoters for LAGE3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000483224 457 1601 PKNOX1 ATF1 CREB3L1 MLX ARID4B SIN3A FEZF1 ZNF2 GLIS2 ZNF143

Genomic Location for LAGE3 Gene

Chromosome:
X
Start:
154,477,769 bp from pter
End:
154,479,257 bp from pter
Size:
1,489 bases
Orientation:
Minus strand

Genomic View for LAGE3 Gene

Genes around LAGE3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAGE3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAGE3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAGE3 Gene

Proteins for LAGE3 Gene

  • Protein details for LAGE3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14657-LAGE3_HUMAN
    Recommended name:
    EKC/KEOPS complex subunit LAGE3
    Protein Accession:
    Q14657
    Secondary Accessions:
    • Q5HY39
    • Q8IZ78

    Protein attributes for LAGE3 Gene

    Size:
    143 amino acids
    Molecular mass:
    14804 Da
    Quaternary structure:
    • Component of the EKC/KEOPS complex composed of at least TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes.
    SequenceCaution:
    • Sequence=CAA63489.1; Type=Frameshift; Positions=54; Evidence={ECO:0000305};

neXtProt entry for LAGE3 Gene

Post-translational modifications for LAGE3 Gene

  • Ubiquitination at Lys 95
  • Modification sites at PhosphoSitePlus

Other Protein References for LAGE3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LAGE3 Gene

Domains & Families for LAGE3 Gene

Protein Domains for LAGE3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAGE3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14657

UniProtKB/Swiss-Prot:

LAGE3_HUMAN :
  • Belongs to the CTAG/PCC1 family.
Family:
  • Belongs to the CTAG/PCC1 family.
genes like me logo Genes that share domains with LAGE3: view

No data available for Gene Families for LAGE3 Gene

Function for LAGE3 Gene

Molecular function for LAGE3 Gene

UniProtKB/Swiss-Prot Function:
Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex (By similarity).

Gene Ontology (GO) - Molecular Function for LAGE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with LAGE3: view

Phenotypes for LAGE3 Gene

genes like me logo Genes that share phenotypes with LAGE3: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LAGE3 Gene

Localization for LAGE3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAGE3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LAGE3 Gene COMPARTMENTS Subcellular localization image for LAGE3 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for LAGE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with LAGE3: view

Pathways & Interactions for LAGE3 Gene

genes like me logo Genes that share pathways with LAGE3: view

Pathways by source for LAGE3 Gene

Gene Ontology (GO) - Biological Process for LAGE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008033 tRNA processing IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with LAGE3: view

No data available for SIGNOR curated interactions for LAGE3 Gene

Transcripts for LAGE3 Gene

mRNA/cDNA for LAGE3 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(135) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LAGE3 Gene

L antigen family, member 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAGE3 Gene

No ASD Table

Relevant External Links for LAGE3 Gene

GeneLoc Exon Structure for
LAGE3
ECgene alternative splicing isoforms for
LAGE3

Expression for LAGE3 Gene

mRNA expression in normal human tissues for LAGE3 Gene

Protein differential expression in normal tissues from HIPED for LAGE3 Gene

This gene is overexpressed in Lavage (33.8) and Peripheral blood mononuclear cells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LAGE3 Gene



Protein tissue co-expression partners for LAGE3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LAGE3 Gene:

LAGE3

SOURCE GeneReport for Unigene cluster for LAGE3 Gene:

Hs.444619

mRNA Expression by UniProt/SwissProt for LAGE3 Gene:

Q14657-LAGE3_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with LAGE3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LAGE3 Gene

Orthologs for LAGE3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LAGE3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAGE3 34 35
  • 99.31 (n)
cow
(Bos Taurus)
Mammalia LOC782436 34
  • 77.98 (n)
dog
(Canis familiaris)
Mammalia LOC100856548 34
  • 73.65 (n)
-- 35
  • 58 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Lage3 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lage3 34
  • 60.08 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536597 34
  • 58.02 (n)
CABZ01063556.1 35
  • 50 (a)
OneToMany
Species where no ortholog for LAGE3 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 LAGE3 Gene

ENSEMBL:
Gene Tree for LAGE3 (if available)
TreeFam:
Gene Tree for LAGE3 (if available)

Paralogs for LAGE3 Gene

Paralogs for LAGE3 Gene

(2) SIMAP similar genes for LAGE3 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for LAGE3 Gene

genes like me logo Genes that share paralogs with LAGE3: view

Variants for LAGE3 Gene

Sequence variations from dbSNP and Humsavar for LAGE3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs10011 -- 154,477,866(-) GGCAG(G/T)AATTC utr-variant-3-prime
rs1059317 -- 154,477,451(+) TGATC(A/G)TTAGA downstream-variant-500B
rs1062915 -- 154,478,760(+) CTGGC(C/G)GCAGA reference, synonymous-codon
rs111230391 -- 154,478,090(+) AATTG(A/G)AGGTG intron-variant
rs111630359 -- 154,479,033(+) GCCTG(C/T)GCAGG utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for LAGE3 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407
esv33784 CNV gain+loss 17666407
nsv519042 CNV gain 19592680

Variation tolerance for LAGE3 Gene

Residual Variation Intolerance Score: 77.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAGE3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAGE3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAGE3 Gene

Disorders for LAGE3 Gene

Relevant External Links for LAGE3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAGE3

No disorders were found for LAGE3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LAGE3 Gene

Publications for LAGE3 Gene

  1. The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin ligases by the human tumour antigen PRAME. (PMID: 22912744) Costessi A. … Stunnenberg H.G. (PLoS ONE 2012) 2 3 4 64
  2. Characterization and fine localization of two new genes in Xq28 using the genomic sequence/EST database screening approach. (PMID: 8786131) Faranda S. … Vezzoni P. (Genomics 1996) 2 3 4 64
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  4. 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
  5. A new member of the NY-ESO-1 gene family is ubiquitously expressed in somatic tissues and evolutionarily conserved. (PMID: 12384295) Alpen B. … Chen Y.-T. (Gene 2002) 3 4 64

Products for LAGE3 Gene

Sources for LAGE3 Gene

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