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Osgep O-sialoglycoprotein endopeptidase [ Mus musculus (house mouse) ]

Gene ID: 66246, updated on 8-May-2024

Summary

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Official Symbol
Osgepprovided by MGI
Official Full Name
O-sialoglycoprotein endopeptidaseprovided by MGI
Primary source
MGI:MGI:1913496
See related
Ensembl:ENSMUSG00000006289 AllianceGenome:MGI:1913496
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
GCPL-1; PRSMG1; 1500019L24Rik
Summary
Predicted to enable N(6)-L-threonylcarbamoyladenine synthase activity and metal ion binding activity. Predicted to be involved in tRNA threonylcarbamoyladenosine modification. Predicted to act upstream of or within tRNA processing. Predicted to be located in nuclear speck and plasma membrane. Predicted to be part of EKC/KEOPS complex. Predicted to be active in cytoplasm. Is expressed in 2-cell stage embryo and 4-cell stage embryo. Human ortholog(s) of this gene implicated in Galloway-Mowat syndrome 3. Orthologous to human OSGEP (O-sialoglycoprotein endopeptidase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 44.1), adrenal adult (RPKM 34.5) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Osgep in Genome Data Viewer
Location:
14 C1; 14 26.3 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (51152831..51162350, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (50915374..50924893, complement)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene telomerase associated protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E8557 Neighboring gene predicted gene, 26782 Neighboring gene kelch-like 33 Neighboring gene Apex1 promoter region Neighboring gene STARR-seq mESC enhancer starr_36659 Neighboring gene apurinic/apyrimidinic endonuclease 1 Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Identification of the functional elements in the bidirectional promoter of the mouse O-sialoglycoprotein endopeptidase and APEX nuclease genes. Ikeda S, et al. Biochem Biophys Res Commun, 2002 Aug 30. PMID 12200116
  2. Sequencing analysis of a putative human O-sialoglycoprotein endopeptidase gene (OSGEP) and analysis of a bidirectional promoter between the OSGEP and APEX genes. Seki Y, et al. Gene, 2002 Feb 20. PMID 12039036
  3. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Braun DA, et al. Nat Genet, 2017 Oct. PMID 28805828, Free PMC Article
  4. LCP1 preferentially binds clasped αMβ2 integrin and attenuates leukocyte adhesion under flow. Tseng HY, et al. J Cell Sci, 2018 Nov 21. PMID 30333137, Free PMC Article
  5. Deterministic and stochastic allele specific gene expression in single mouse blastomeres. Tang F, et al. PLoS One, 2011. PMID 21731673, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. promoter regions and tissue distribution of Osgep
    Title: Identification of the functional elements in the bidirectional promoter of the mouse O-sialoglycoprotein endopeptidase and APEX nuclease genes.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 
  • Gene trapped (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables N(6)-L-threonylcarbamoyladenine synthase activity ISO
Inferred from Sequence Orthology
more info
  
enables acyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in tRNA modification ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within tRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in tRNA threonylcarbamoyladenosine modification ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
part_of EKC/KEOPS complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of EKC/KEOPS complex ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
tRNA N6-adenosine threonylcarbamoyltransferase
Names
N6-L-threonylcarbamoyladenine synthase
mOsgep
probable O-sialoglycoprotein endopeptidase
probable tRNA N6-adenosine threonylcarbamoyltransferase
probable tRNA threonylcarbamoyladenosine biosynthesis protein Osgep
t(6)A synthase
t(6)A37 threonylcarbamoyladenosine biosynthesis protein Osgep
tRNA threonylcarbamoyladenosine biosynthesis protein Osgep
NP_598437.2

NCBI Reference Sequences (RefSeq)

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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_133676.2 → NP_598437.2  tRNA N6-adenosine threonylcarbamoyltransferase

    See identical proteins and their annotated locations for NP_598437.2

    Status: VALIDATED

    Source sequence(s)
    AK142730, CA481753
    Consensus CDS
    CCDS27026.1
    UniProtKB/TrEMBL
    A0A0R4J1Y3, Q3UQ67
    Related
    ENSMUSP00000124039.2, ENSMUST00000159292.8
    Conserved Domains (2) summary
    PTZ00340
    Location:4 → 335
    PTZ00340; O-sialoglycoprotein endopeptidase-like protein; Provisional
    cl22532
    Location:4 → 108
    Carbam_trans_N; Carbamoyltransferase N-terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    51152831..51162350 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BWU5.2 GenPept UniProtKB/Swiss-Prot:Q8BWU5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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