Human Gene OSGEP (uc001vxf.3)
  Description: Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr14:20,915,207-20,923,267 Size: 8,061 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr14:20,915,399-20,922,842 Size: 7,444 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:20,915,207-20,923,267)mRNA (may differ from genome)Protein (335 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OSGEP_HUMAN
DESCRIPTION: RecName: Full=Probable tRNA threonylcarbamoyladenosine biosynthesis protein OSGEP; AltName: Full=hOSGEP; AltName: Full=t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEP;
FUNCTION: Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (By similarity).
TISSUE SPECIFICITY: Widely expressed at low level. Expressed in heart, placenta, liver, kidney, lung, brain, skeletal muscle and pancreas.
SIMILARITY: Belongs to the KAE1 / YgjD family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): OSGEP
CDC HuGE Published Literature: OSGEP

-  MalaCards Disease Associations
  MalaCards Gene Search: OSGEP
Diseases sorted by gene-association score: cataract 14, multiple types (8), shipyard eye (6), pasteurellosis (6), trichomoniasis (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.87 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 515.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -162.10425-0.381 Picture PostScript Text
3' UTR -60.00192-0.312 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000905 - Gcp-like_dom
IPR017861 - KAE1/YgjD
IPR017860 - Peptidase_M22_CS

Pfam Domains:
PF00814 - Glycoprotease family

SCOP Domains:
53067 - Actin-like ATPase domain

ModBase Predicted Comparative 3D Structure on Q9NPF4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0046872 metal ion binding
GO:0061711 N(6)-L-threonylcarbamoyladenine synthase

Biological Process:
GO:0002949 tRNA threonylcarbamoyladenosine modification
GO:0008033 tRNA processing

Cellular Component:
GO:0000408 EKC/KEOPS complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  AK055492 - Homo sapiens cDNA FLJ30930 fis, clone FEBRA2006817, highly similar to Rattus norvegicus Prsmg1/Gcpl1 and Apex genes for O-sialoglycoprotease and Apex nuclease.
LF384984 - JP 2014500723-A/192487: Polycomb-Associated Non-Coding RNAs.
AK000418 - Homo sapiens cDNA FLJ20411 fis, clone KAT01942.
BC032310 - Homo sapiens O-sialoglycoprotein endopeptidase, mRNA (cDNA clone MGC:40286 IMAGE:5211591), complete cds.
AK054823 - Homo sapiens cDNA FLJ30261 fis, clone BRACE2002585, highly similar to Homo sapiens mRNA for putative sialoglycoprotease.
AF052137 - Homo sapiens clone 23918 mRNA sequence.
AB050442 - Homo sapiens OSGEP mRNA for O-sialoglycoprotein endopeptidase, complete cds.
JD197408 - Sequence 178432 from Patent EP1572962.
JD512218 - Sequence 493242 from Patent EP1572962.
JD396780 - Sequence 377804 from Patent EP1572962.
JD446625 - Sequence 427649 from Patent EP1572962.
AJ271669 - Homo sapiens mRNA for putative sialoglycoprotease.
CR457232 - Homo sapiens full open reading frame cDNA clone RZPDo834E0712D for gene OSGEP, O-sialoglycoprotein endopeptidase; complete cds, incl. stopcodon.
KJ894224 - Synthetic construct Homo sapiens clone ccsbBroadEn_03618 OSGEP gene, encodes complete protein.
EU176277 - Synthetic construct Homo sapiens clone IMAGE:100006400; FLH178649.01X; RZPDo839D12250D O-sialoglycoprotein endopeptidase (OSGEP) gene, encodes complete protein.
DQ894806 - Synthetic construct Homo sapiens clone IMAGE:100009266; FLH178643.01L; RZPDo839F06127D O-sialoglycoprotein endopeptidase (OSGEP) gene, encodes complete protein.
AB463988 - Synthetic construct DNA, clone: pF1KB6410, Homo sapiens OSGEP gene for O-sialoglycoprotein endopeptidase, without stop codon, in Flexi system.
JD227838 - Sequence 208862 from Patent EP1572962.
JD142217 - Sequence 123241 from Patent EP1572962.
JD417111 - Sequence 398135 from Patent EP1572962.
JD081492 - Sequence 62516 from Patent EP1572962.
MA620561 - JP 2018138019-A/192487: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NPF4 (Reactome details) participates in the following event(s):

R-HSA-6784494 EKC complex threonylcarbamoylates A37 of tRNAs
R-HSA-6782315 tRNA modification in the nucleus and cytosol
R-HSA-72306 tRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: GCPL1, NM_017807, NP_060277, OSGEP_HUMAN, Q6IAC3, Q9NPF4
UCSC ID: uc001vxf.3
RefSeq Accession: NM_017807
Protein: Q9NPF4 (aka OSGEP_HUMAN)
CCDS: CCDS9549.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017807.3
exon count: 11CDS single in 3' UTR: no RNA size: 1642
ORF size: 1008CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1953.50frame shift in genome: no % Coverage: 98.96
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.