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LAGE3 L antigen family member 3 [ Homo sapiens (human) ]

Gene ID: 8270, updated on 7-Oct-2018

Summary

Official Symbol
LAGE3provided by HGNC
Official Full Name
L antigen family member 3provided by HGNC
Primary source
HGNC:HGNC:26058
See related
Ensembl:ENSG00000196976 MIM:300060; Vega:OTTHUMG00000033294
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
CVG5; ESO3; Pcc1; ITBA2; GAMOS2; DXS9879E; DXS9951E
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 8.7), adrenal (RPKM 6.8) and 25 other tissues See more
Orthologs

Genomic context

See LAGE3 in Genome Data Viewer
Location:
Xq28
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (154477769..154479257, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153705241..153707596, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 50 member A Neighboring gene microRNA 6858 Neighboring gene plexin A3 Neighboring gene ubiquitin like 4A Neighboring gene solute carrier family 10 member 3

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • tRNA modification in the nucleus and cytosol, organism-specific biosystem (from REACTOME)
    tRNA modification in the nucleus and cytosol, organism-specific biosystemAt least 92 distinct tRNA nucleotide base modifications have been found. The modifications are made post-transcriptionally by a large group of disparate enzymes located in the nucleus, cytosol, and m...
  • tRNA processing, organism-specific biosystem (from REACTOME)
    tRNA processing, organism-specific biosystemGenes encoding transfer RNAs (tRNAs) are transcribed by RNA polymerase III in the nucleus and by mitochondrial RNA polymerase in the mitochondrion.In the nucleus transcription reactions produce precu...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
tRNA processing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
EKC/KEOPS complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
EKC/KEOPS complex subunit LAGE3
Names
protein ESO-3

NCBI Reference Sequences (RefSeq)

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_006014.4NP_006005.2  EKC/KEOPS complex subunit LAGE3

    See identical proteins and their annotated locations for NP_006005.2

    Status: REVIEWED

    Source sequence(s)
    BC015744, BQ649305
    Consensus CDS
    CCDS14753.1
    UniProtKB/Swiss-Prot
    Q14657
    Related
    ENSP00000349923.4, OTTHUMP00000032119, ENST00000357360.4, OTTHUMT00000081651
    Conserved Domains (1) summary
    pfam09341
    Location:63135
    Pcc1; Transcription factor Pcc1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    154477769..154479257 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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