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Protein

Probable tRNA N6-adenosine threonylcarbamoyltransferase

Gene

OSGEP

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. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity.UniRule annotation2 Publications2 Publications

Catalytic activityi

L-threonylcarbamoyladenylate + adenine(37) in tRNA = AMP + N6-L-threonylcarbamoyladenine(37) in tRNA.UniRule annotation

Cofactori

a divalent metal cationUniRule annotationNote: Binds 1 divalent metal cation per subunit.UniRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi109Divalent metal cationUniRule annotation1
Metal bindingi113Divalent metal cationUniRule annotation1
Metal bindingi130Divalent metal cationUniRule annotation1
Binding sitei162SubstrateUniRule annotation1
Binding sitei177Substrate; via amide nitrogenUniRule annotation1
Binding sitei181SubstrateUniRule annotation1
Binding sitei266SubstrateUniRule annotation1
Metal bindingi294Divalent metal cationUniRule annotation1

GO - Molecular functioni

GO - Biological processi

  • tRNA threonylcarbamoyladenosine modification Source: UniProtKB

Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processtRNA processing
LigandMetal-binding

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Probable tRNA N6-adenosine threonylcarbamoyltransferaseUniRule annotation (EC:2.3.1.234UniRule annotation)
Alternative name(s):
N6-L-threonylcarbamoyladenine synthase
Short name:
t(6)A synthase
O-sialoglycoprotein endopeptidaseUniRule annotation
Short name:
hOSGEP1 Publication
t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEPUniRule annotation
tRNA threonylcarbamoyladenosine biosynthesis protein OSGEPUniRule annotation
Gene namesi
Name:OSGEP1 PublicationUniRule annotation
Synonyms:GCPL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000092094.10
HGNCiHGNC:18028 OSGEP
MIMi610107 gene
neXtProtiNX_Q9NPF4

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 3 (GAMOS3)2 Publications
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:617729
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08035714I → F in GAMOS3; strongly reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 Publication1
Natural variantiVAR_08035878K → E in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs200347983EnsemblClinVar.1
Natural variantiVAR_080359107V → M in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs140583554EnsemblClinVar.1
Natural variantiVAR_080360110C → R in GAMOS3; strongly reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 PublicationCorresponds to variant dbSNP:rs140076803EnsemblClinVar.1
Natural variantiVAR_080361111I → T in GAMOS3; strongly reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 Publication1
Natural variantiVAR_080362139I → T in GAMOS3. 1 Publication1
Natural variantiVAR_080363177G → A in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs778931753EnsemblClinVar.1
Natural variantiVAR_080364198K → R in GAMOS3; reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 Publication1
Natural variantiVAR_080365247R → Q in GAMOS3; reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 PublicationCorresponds to variant dbSNP:rs773173317EnsemblClinVar.1
Natural variantiVAR_080366280R → C in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs374322839EnsemblClinVar.1
Natural variantiVAR_080367280R → H in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs144732839EnsemblClinVar.1
Natural variantiVAR_080368280R → L in GAMOS3; reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 Publication1
Natural variantiVAR_080369325R → Q in GAMOS3; reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 2 PublicationsCorresponds to variant dbSNP:rs753237335EnsemblClinVar.1
Natural variantiVAR_080370325R → W in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs761839638EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi55644
MalaCardsiOSGEP
MIMi617729 phenotype
OpenTargetsiENSG00000092094
Orphaneti2065 Galloway-Mowat syndrome
PharmGKBiPA32834

Polymorphism and mutation databases

BioMutaiOSGEP
DMDMi47605574

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000969841 – 335Probable tRNA N6-adenosine threonylcarbamoyltransferaseAdd BLAST335

Proteomic databases

EPDiQ9NPF4
MaxQBiQ9NPF4
PaxDbiQ9NPF4
PeptideAtlasiQ9NPF4
PRIDEiQ9NPF4
ProteomicsDBi81984

PTM databases

iPTMnetiQ9NPF4
PhosphoSitePlusiQ9NPF4

Expressioni

Tissue specificityi

Widely expressed at low level. Expressed in heart, placenta, liver, kidney, lung, brain, skeletal muscle and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000092094 Expressed in 203 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_OSGEP
ExpressionAtlasiQ9NPF4 baseline and differential
GenevisibleiQ9NPF4 HS

Organism-specific databases

HPAiHPA039751

Interactioni

Subunit structurei

Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes. Interacts with PRAME.UniRule annotation3 Publications

Protein-protein interaction databases

BioGridi120779, 76 interactors
IntActiQ9NPF4, 25 interactors
MINTiQ9NPF4
STRINGi9606.ENSP00000206542

Structurei

3D structure databases

ProteinModelPortaliQ9NPF4
SMRiQ9NPF4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni130 – 134Substrate bindingUniRule annotation5

Sequence similaritiesi

Belongs to the KAE1 / TsaD family.UniRule annotation

Phylogenomic databases

eggNOGiKOG2708 Eukaryota
COG0533 LUCA
GeneTreeiENSGT00550000074933
HOGENOMiHOG000109569
HOVERGENiHBG051713
InParanoidiQ9NPF4
KOiK01409
OMAiAHAGAEM
OrthoDBiEOG091G0AHJ
PhylomeDBiQ9NPF4
TreeFamiTF313621

Family and domain databases

HAMAPiMF_01446 Kae1, 1 hit
InterProiView protein in InterPro
IPR000905 Gcp-like_dom
IPR034680 Kae1/OSGEP
IPR017861 KAE1/TsaD
IPR017860 Peptidase_M22_CS
PANTHERiPTHR11735 PTHR11735, 1 hit
PTHR11735:SF14 PTHR11735:SF14, 1 hit
PfamiView protein in Pfam
PF00814 Peptidase_M22, 1 hit
PRINTSiPR00789 OSIALOPTASE
TIGRFAMsiTIGR00329 gcp_kae1, 1 hit
PROSITEiView protein in PROSITE
PS01016 GLYCOPROTEASE, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9NPF4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPAVLGFEGS ANKIGVGVVR DGKVLANPRR TYVTPPGTGF LPGDTARHHR
60 70 80 90 100
AVILDLLQEA LTESGLTSQD IDCIAYTKGP GMGAPLVSVA VVARTVAQLW
110 120 130 140 150
NKPLVGVNHC IGHIEMGRLI TGATSPTVLY VSGGNTQVIA YSEHRYRIFG
160 170 180 190 200
ETIDIAVGNC LDRFARVLKI SNDPSPGYNI EQMAKRGKKL VELPYTVKGM
210 220 230 240 250
DVSFSGILSF IEDVAHRMLA TGECTPEDLC FSLQETVFAM LVEITERAMA
260 270 280 290 300
HCGSQEALIV GGVGCNVRLQ EMMATMCQER GARLFATDER FCIDNGAMIA
310 320 330
QAGWEMFRAG HRTPLSDSGV TQRYRTDEVE VTWRD
Length:335
Mass (Da):36,427
Last modified:October 1, 2000 - v1
Checksum:i54DCBBB26C03E8FB
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V445G3V445_HUMAN
Probable tRNA N6-adenosine threonyl...
OSGEP
149Annotation score:
G3V249G3V249_HUMAN
Probable tRNA N6-adenosine threonyl...
OSGEP
111Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08035714I → F in GAMOS3; strongly reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 Publication1
Natural variantiVAR_08035878K → E in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs200347983EnsemblClinVar.1
Natural variantiVAR_080359107V → M in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs140583554EnsemblClinVar.1
Natural variantiVAR_080360110C → R in GAMOS3; strongly reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 PublicationCorresponds to variant dbSNP:rs140076803EnsemblClinVar.1
Natural variantiVAR_080361111I → T in GAMOS3; strongly reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 Publication1
Natural variantiVAR_080362139I → T in GAMOS3. 1 Publication1
Natural variantiVAR_080363177G → A in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs778931753EnsemblClinVar.1
Natural variantiVAR_080364198K → R in GAMOS3; reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 Publication1
Natural variantiVAR_080365247R → Q in GAMOS3; reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 PublicationCorresponds to variant dbSNP:rs773173317EnsemblClinVar.1
Natural variantiVAR_080366280R → C in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs374322839EnsemblClinVar.1
Natural variantiVAR_080367280R → H in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs144732839EnsemblClinVar.1
Natural variantiVAR_080368280R → L in GAMOS3; reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 1 Publication1
Natural variantiVAR_080369325R → Q in GAMOS3; reduced formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs. 2 PublicationsCorresponds to variant dbSNP:rs753237335EnsemblClinVar.1
Natural variantiVAR_080370325R → W in GAMOS3. 1 PublicationCorresponds to variant dbSNP:rs761839638EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB047823 Genomic DNA Translation: BAB33147.1
AB050442 mRNA Translation: BAB33172.1
AJ271669 mRNA Translation: CAB71031.1
AK000418 mRNA Translation: BAA91150.1
CR457232 mRNA Translation: CAG33513.1
BC032310 mRNA Translation: AAH32310.1
CCDSiCCDS9549.1
RefSeqiNP_060277.1, NM_017807.3
UniGeneiHs.525196

Genome annotation databases

EnsembliENST00000206542; ENSP00000206542; ENSG00000092094
GeneIDi55644
KEGGihsa:55644
UCSCiuc001vxf.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB047823 Genomic DNA Translation: BAB33147.1
AB050442 mRNA Translation: BAB33172.1
AJ271669 mRNA Translation: CAB71031.1
AK000418 mRNA Translation: BAA91150.1
CR457232 mRNA Translation: CAG33513.1
BC032310 mRNA Translation: AAH32310.1
CCDSiCCDS9549.1
RefSeqiNP_060277.1, NM_017807.3
UniGeneiHs.525196

3D structure databases

ProteinModelPortaliQ9NPF4
SMRiQ9NPF4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120779, 76 interactors
IntActiQ9NPF4, 25 interactors
MINTiQ9NPF4
STRINGi9606.ENSP00000206542

PTM databases

iPTMnetiQ9NPF4
PhosphoSitePlusiQ9NPF4

Polymorphism and mutation databases

BioMutaiOSGEP
DMDMi47605574

Proteomic databases

EPDiQ9NPF4
MaxQBiQ9NPF4
PaxDbiQ9NPF4
PeptideAtlasiQ9NPF4
PRIDEiQ9NPF4
ProteomicsDBi81984

Protocols and materials databases

DNASUi55644
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000206542; ENSP00000206542; ENSG00000092094
GeneIDi55644
KEGGihsa:55644
UCSCiuc001vxf.4 human

Organism-specific databases

CTDi55644
DisGeNETi55644
EuPathDBiHostDB:ENSG00000092094.10
GeneCardsiOSGEP
HGNCiHGNC:18028 OSGEP
HPAiHPA039751
MalaCardsiOSGEP
MIMi610107 gene
617729 phenotype
neXtProtiNX_Q9NPF4
OpenTargetsiENSG00000092094
Orphaneti2065 Galloway-Mowat syndrome
PharmGKBiPA32834
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2708 Eukaryota
COG0533 LUCA
GeneTreeiENSGT00550000074933
HOGENOMiHOG000109569
HOVERGENiHBG051713
InParanoidiQ9NPF4
KOiK01409
OMAiAHAGAEM
OrthoDBiEOG091G0AHJ
PhylomeDBiQ9NPF4
TreeFamiTF313621

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiOSGEP human
GeneWikiiOSGEP
GenomeRNAii55644
PROiPR:Q9NPF4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000092094 Expressed in 203 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_OSGEP
ExpressionAtlasiQ9NPF4 baseline and differential
GenevisibleiQ9NPF4 HS

Family and domain databases

HAMAPiMF_01446 Kae1, 1 hit
InterProiView protein in InterPro
IPR000905 Gcp-like_dom
IPR034680 Kae1/OSGEP
IPR017861 KAE1/TsaD
IPR017860 Peptidase_M22_CS
PANTHERiPTHR11735 PTHR11735, 1 hit
PTHR11735:SF14 PTHR11735:SF14, 1 hit
PfamiView protein in Pfam
PF00814 Peptidase_M22, 1 hit
PRINTSiPR00789 OSIALOPTASE
TIGRFAMsiTIGR00329 gcp_kae1, 1 hit
PROSITEiView protein in PROSITE
PS01016 GLYCOPROTEASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiOSGEP_HUMAN
AccessioniPrimary (citable) accession number: Q9NPF4
Secondary accession number(s): Q6IAC3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 151 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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