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Protein

EKC/KEOPS complex subunit LAGE3

Gene

LAGE3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t6A37) 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.2 Publications

GO - Biological processi

Keywordsi

Biological processtRNA processing

Enzyme and pathway databases

ReactomeiR-HSA-6782315 tRNA modification in the nucleus and cytosol

Names & Taxonomyi

Protein namesi
Recommended name:
EKC/KEOPS complex subunit LAGE3Curated
Alternative name(s):
L antigen family member 31 Publication
Protein ESO-31 Publication
Protein ITBA21 Publication
Gene namesi
Name:LAGE3Imported
Synonyms:DXS9879E, ESO31 Publication, ITBA21 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000196976.6
HGNCiHGNC:26058 LAGE3
MIMi300060 gene
neXtProtiNX_Q14657

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Galloway-Mowat syndrome 2, X-linked (GAMOS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood.
See also OMIM:301006
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080374106V → F in GAMOS2. 1 Publication1
Natural variantiVAR_080375137F → S in GAMOS2. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

MalaCardsiLAGE3
MIMi301006 phenotype
OpenTargetsiENSG00000196976
PharmGKBiPA128394540

Polymorphism and mutation databases

DMDMi54041570

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002189241 – 143EKC/KEOPS complex subunit LAGE3Add BLAST143

Proteomic databases

EPDiQ14657
MaxQBiQ14657
PaxDbiQ14657
PeptideAtlasiQ14657
PRIDEiQ14657
ProteomicsDBi60095

PTM databases

iPTMnetiQ14657
PhosphoSitePlusiQ14657

Miscellaneous databases

PMAP-CutDBiQ14657

Expressioni

Tissue specificityi

Ubiquitous.2 Publications

Gene expression databases

BgeeiENSG00000196976
CleanExiHS_LAGE3
GenevisibleiQ14657 HS

Organism-specific databases

HPAiHPA036122
HPA036123

Interactioni

Subunit structurei

Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes.3 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi113888, 68 interactors
IntActiQ14657, 29 interactors
MINTiQ14657
STRINGi9606.ENSP00000349923

Structurei

3D structure databases

ProteinModelPortaliQ14657
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CTAG/PCC1 family.Curated

Phylogenomic databases

eggNOGiENOG410J4BY Eukaryota
ENOG410Y0JU LUCA
GeneTreeiENSGT00410000025802
HOGENOMiHOG000040003
HOVERGENiHBG052154
InParanoidiQ14657
KOiK15902
OMAiRPHIFTL
OrthoDBiEOG091G0LGL
PhylomeDBiQ14657
TreeFamiTF337064

Family and domain databases

InterProiView protein in InterPro
IPR015419 CTAG/Pcc1
PfamiView protein in Pfam
PF09341 Pcc1, 1 hit

Sequencei

Sequence statusi: Complete.

Q14657-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRDADADAGG GADGGDGRGG HSCRGGVDTA AAPAGGAPPA HAPGPGRDAA
60 70 80 90 100
SAARGSRMRP HIFTLSVPFP TPLEAEIAHG SLAPDAEPHQ RVVGKDLTVS
110 120 130 140
GRILVVRWKA EDCRLLRISV INFLDQLSLV VRTMQRFGPP VSR
Length:143
Mass (Da):14,804
Last modified:October 11, 2004 - v2
Checksum:iAD164559371449F8
GO

Sequence cautioni

The sequence CAA63489 differs from that shown. Reason: Frameshift at position 54.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080374106V → F in GAMOS2. 1 Publication1
Natural variantiVAR_080375137F → S in GAMOS2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX936365 Genomic DNA No translation available.
BC015744 mRNA Translation: AAH15744.2
BC062330 mRNA Translation: AAH62330.1
X92896 mRNA Translation: CAA63489.1 Frameshift.
CCDSiCCDS14753.1
RefSeqiNP_006005.2, NM_006014.4
UniGeneiHs.444619

Genome annotation databases

EnsembliENST00000357360; ENSP00000349923; ENSG00000196976
GeneIDi8270
KEGGihsa:8270
UCSCiuc033fbs.1 human

Similar proteinsi

Entry informationi

Entry nameiLAGE3_HUMAN
AccessioniPrimary (citable) accession number: Q14657
Secondary accession number(s): Q5HY39, Q8IZ78
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 11, 2004
Last modified: July 18, 2018
This is version 136 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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