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Aliases for OSGEP Gene

Aliases for OSGEP Gene

  • O-Sialoglycoprotein Endopeptidase 2 3 4 5
  • T(6)A37 Threonylcarbamoyladenosine Biosynthesis Protein OSGEP 3 4
  • TRNA Threonylcarbamoyladenosine Biosynthesis Protein OSGEP 3 4
  • N6-L-Threonylcarbamoyladenine Synthase 3 4
  • T(6)A Synthase 3 4
  • HOSGEP 3 4
  • GCPL1 3 4
  • Probable TRNA Threonylcarbamoyladenosine Biosynthesis Protein OSGEP 3
  • Probable TRNA N6-Adenosine Threonylcarbamoyltransferase 3
  • Probable O-Sialoglycoprotein Endopeptidase 3
  • EC 2.3.1.234 4
  • GAMOS3 3
  • OSGEP1 3
  • PRSMG1 3
  • KAE1 3
  • TCS3 3

External Ids for OSGEP Gene

Previous GeneCards Identifiers for OSGEP Gene

  • GC14M018285
  • GC14M014702
  • GC14M018904
  • GC14M018905
  • GC14M019985
  • GC14M020915
  • GC14M001036

Summaries for OSGEP Gene

GeneCards Summary for OSGEP Gene

OSGEP (O-Sialoglycoprotein Endopeptidase) is a Protein Coding gene. Diseases associated with OSGEP include Galloway-Mowat Syndrome 3 and Galloway-Mowat Syndrome. Among its related pathways are tRNA processing and Gene Expression. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups and transferase activity, transferring acyl groups.

UniProtKB/Swiss-Prot for OSGEP 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. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity.

Gene Wiki entry for OSGEP Gene

Additional gene information for OSGEP Gene

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

Genomics for OSGEP Gene

GeneHancer (GH) Regulatory Elements for OSGEP Gene

Promoters and enhancers for OSGEP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J020453 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 709.7 -0.4 -435 3.9 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 SP3 NFYC OSGEP APEX1 METTL17 SUPT16H ENSG00000258515 TEP1 TTC5 ZNF219 RNASE9 RNASE12
GH14J020679 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.1 -229.4 -229425 9.8 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 RNASE4 ANG ENSG00000259171 PIR55020 TRP-TGG3-2 TRY-GTA5-5 METTL3 SUPT16H CHD8 METTL17
GH14J020612 Enhancer 1.3 Ensembl ENCODE 24.4 -158.6 -158599 3.3 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 GC14M020647 TRP-AGG2-6 TRT-TGT3-1 METTL3 SUPT16H ENSG00000258515 CHD8 METTL17 PARP2 ENSG00000258768
GH14J020622 Enhancer 1.2 Ensembl ENCODE 24.7 -169.6 -169641 3.9 HNRNPUL1 SIN3A FEZF1 ZNF2 ZNF213 ZNF143 FOS KLF13 ZC3H11A REST GC14P020627 TRL-TAG2-1 PIR59363 METTL3 SUPT16H METTL17 CHD8 ENSG00000258515 TEP1 PARP2
GH14J020426 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 19.2 +27.0 27000 2.7 NFIB ARID4B BATF IRF4 FOS ETV6 BCLAF1 IKZF2 RUNX3 CREM OSGEP PNP PIP4P1 APEX1 RNASE11 TEP1 KLHL33 RNASE6 RNASE3 GC14P020415
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OSGEP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OSGEP gene promoter:
  • AP-1
  • STAT3
  • GR

Genomic Locations for OSGEP Gene

Genomic Locations for OSGEP Gene
chr14:20,446,411-20,455,108
(GRCh38/hg38)
Size:
8,698 bases
Orientation:
Minus strand
chr14:20,914,570-20,923,267
(GRCh37/hg19)
Size:
8,698 bases
Orientation:
Minus strand

Genomic View for OSGEP Gene

Genes around OSGEP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for OSGEP Gene

Proteins for OSGEP Gene

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

    Protein Symbol:
    Q9NPF4-OSGEP_HUMAN
    Recommended name:
    Probable tRNA N6-adenosine threonylcarbamoyltransferase
    Protein Accession:
    Q9NPF4
    Secondary Accessions:
    • Q6IAC3

    Protein attributes for OSGEP Gene

    Size:
    335 amino acids
    Molecular mass:
    36427 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    • Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes. Interacts with PRAME.

neXtProt entry for OSGEP Gene

Post-translational modifications for OSGEP Gene

  • Ubiquitination at Lys185
  • Modification sites at PhosphoSitePlus

Other Protein References for OSGEP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OSGEP Gene

Domains & Families for OSGEP Gene

Gene Families for OSGEP Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for OSGEP Gene

Suggested Antigen Peptide Sequences for OSGEP Gene

Graphical View of Domain Structure for InterPro Entry

Q9NPF4

UniProtKB/Swiss-Prot:

OSGEP_HUMAN :
  • Belongs to the KAE1 / TsaD family.
Family:
  • Belongs to the KAE1 / TsaD family.
genes like me logo Genes that share domains with OSGEP: view

Function for OSGEP Gene

Molecular function for OSGEP 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. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity.
UniProtKB/Swiss-Prot CatalyticActivity:
L-threonylcarbamoyladenylate + adenine(37) in tRNA = AMP + N(6)-L-threonylcarbamoyladenine(37) in tRNA.

Enzyme Numbers (IUBMB) for OSGEP Gene

Phenotypes From GWAS Catalog for OSGEP Gene

Gene Ontology (GO) - Molecular Function for OSGEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17353931
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0046872 metal ion binding IEA --
GO:0061711 N(6)-L-threonylcarbamoyladenine synthase activity IEA --
genes like me logo Genes that share ontologies with OSGEP: view
genes like me logo Genes that share phenotypes with OSGEP: view

Human Phenotype Ontology for OSGEP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for OSGEP

Clone Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OSGEP Gene

Localization for OSGEP Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSGEP Gene

Cytoplasm. Nucleus.

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 OSGEP gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OSGEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000408 EKC/KEOPS complex IDA 27903914
GO:0005634 nucleus IDA,IEA 27903914
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 28805828
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with OSGEP: view

Pathways & Interactions for OSGEP Gene

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

Pathways by source for OSGEP Gene

Gene Ontology (GO) - Biological Process for OSGEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002949 tRNA threonylcarbamoyladenosine modification IEA,IDA 28805828
GO:0008033 tRNA processing IEA --
genes like me logo Genes that share ontologies with OSGEP: view

No data available for SIGNOR curated interactions for OSGEP Gene

Drugs & Compounds for OSGEP Gene

No Compound Related Data Available

Transcripts for OSGEP Gene

mRNA/cDNA for OSGEP Gene

Unigene Clusters for OSGEP Gene

O-sialoglycoprotein endopeptidase:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^
SP1: - - - - - - - - -
SP2: - -
SP3: - - -
SP4: - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - -
SP7: -
SP8:
SP9:
SP10: -
SP11: -
SP12:

ExUns: 12a · 12b · 12c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for OSGEP Gene

GeneLoc Exon Structure for
OSGEP
ECgene alternative splicing isoforms for
OSGEP

Expression for OSGEP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSGEP Gene

Protein differential expression in normal tissues from HIPED for OSGEP Gene

This gene is overexpressed in Heart (9.2) and Lymph node (6.9).

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



Protein tissue co-expression partners for OSGEP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OSGEP Gene:

OSGEP

SOURCE GeneReport for Unigene cluster for OSGEP Gene:

Hs.525196

mRNA Expression by UniProt/SwissProt for OSGEP Gene:

Q9NPF4-OSGEP_HUMAN
Tissue specificity: Widely expressed at low level. Expressed in heart, placenta, liver, kidney, lung, brain, skeletal muscle and pancreas.

Evidence on tissue expression from TISSUES for OSGEP Gene

  • Nervous system(4.8)
  • Blood(4.4)
  • Kidney(2.6)
genes like me logo Genes that share expression patterns with OSGEP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for OSGEP Gene

Orthologs for OSGEP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OSGEP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSGEP 34 33
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OSGEP 34 33
  • 92.74 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OSGEP 34
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OSGEP 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OSGEP 34 33
  • 89.05 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Osgep 33
  • 87.96 (n)
mouse
(Mus musculus)
Mammalia Osgep 16 34 33
  • 86.87 (n)
lizard
(Anolis carolinensis)
Reptilia OSGEP 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osgep 33
  • 72.44 (n)
Str.3476 33
African clawed frog
(Xenopus laevis)
Amphibia osgep-prov 33
zebrafish
(Danio rerio)
Actinopterygii osgep 34 33
  • 73.63 (n)
OneToOne
wufj38e02 33
fruit fly
(Drosophila melanogaster)
Insecta CG4933 34 35 33
  • 66.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006952 33
  • 66.57 (n)
worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.1 34 35 33
  • 62.69 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KAE1 36 34 33
  • 62.64 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL316W 33
  • 61.53 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F21450g 33
  • 61.13 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G22720 33
  • 63.34 (n)
rice
(Oryza sativa)
Liliopsida Os05g0194600 33
  • 63.67 (n)
Os.25488 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6759 34
  • 75 (a)
OneToOne
Cin.5464 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03836 33
  • 64.85 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pgp2 33
  • 59.82 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5464 33
Species where no ortholog for OSGEP was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OSGEP Gene

ENSEMBL:
Gene Tree for OSGEP (if available)
TreeFam:
Gene Tree for OSGEP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OSGEP: view image

Paralogs for OSGEP Gene

No data available for Paralogs for OSGEP Gene

Variants for OSGEP Gene

Sequence variations from dbSNP and Humsavar for OSGEP Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs140076803 pathogenic, GALLOWAY-MOWAT SYNDROME 3 20,452,057(-) A/G coding_sequence_variant, missense_variant
rs144732839 pathogenic, GALLOWAY-MOWAT SYNDROME 3 20,447,645(-) C/A/G/T coding_sequence_variant, missense_variant
rs374322839 pathogenic, GALLOWAY-MOWAT SYNDROME 3 20,447,646(-) G/A coding_sequence_variant, missense_variant
rs753237335 pathogenic, GALLOWAY-MOWAT SYNDROME 3 20,447,274(-) C/T coding_sequence_variant, missense_variant
rs773173317 pathogenic, GALLOWAY-MOWAT SYNDROME 3 20,447,957(-) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv23438 CNV gain+loss 19812545

Variation tolerance for OSGEP Gene

Residual Variation Intolerance Score: 51.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.95; 19.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSGEP Gene

Human Gene Mutation Database (HGMD)
OSGEP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSGEP

SNP Genotyping and Copy Number Assay Products

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

Disorders for OSGEP Gene

MalaCards: The human disease database

(6) MalaCards diseases for OSGEP Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
galloway-mowat syndrome 3
  • gamos3
galloway-mowat syndrome
  • microcephaly, hiatal hernia, and nephrotic syndrome
cataract 14, multiple types
  • ctrct14
shipyard eye
  • ekc
pasteurellosis
  • pasteurella infection
- elite association - COSMIC cancer census association via MalaCards
Search OSGEP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OSGEP_HUMAN
  • Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]: A 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. {ECO:0000269 PubMed:28272532, ECO:0000269 PubMed:28805828}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for OSGEP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OSGEP: view

No data available for Genatlas for OSGEP Gene

Publications for OSGEP Gene

  1. tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy. (PMID: 28272532) Edvardson S … Elpeleg O (European journal of human genetics : EJHG 2017) 2 3 4 58
  2. Sequencing analysis of a putative human O-sialoglycoprotein endopeptidase gene (OSGEP) and analysis of a bidirectional promoter between the OSGEP and APEX genes. (PMID: 12039036) Seki Y … Matsui H (Gene 2002) 2 3 4 58
  3. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. (PMID: 28805828) Braun DA … Hildebrandt F (Nature genetics 2017) 3 4 58
  4. Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7. (PMID: 27903914) Wan LC … Sicheri F (Nucleic acids research 2017) 3 4 58
  5. The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin ligases by the human tumour antigen PRAME. (PMID: 22912744) Costessi A … Stunnenberg HG (PloS one 2012) 3 4 58

Products for OSGEP Gene

Sources for OSGEP Gene

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