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

Summary

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. Predicted to be involved in tRNA threonylcarbamoyladenosine modification. Predicted to be located in cytosol and nucleoplasm. 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, Dec 2024]
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

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_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Apex1 (e-PCR), detects polymorphism
- UniSTS:525681

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N(6)-L-threonylcarbamoyladenine synthase activity	IEA Inferred from Electronic Annotation more info
enables N(6)-L-threonylcarbamoyladenine synthase activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in tRNA modification	ISO Inferred from Sequence Orthology more info
involved_in tRNA threonylcarbamoyladenosine modification	ISO Inferred from Sequence Orthology more info
involved_in tRNA threonylcarbamoyladenosine modification	ISS Inferred from Sequence or Structural Similarity 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
part_of EKC/KEOPS complex	ISS Inferred from Sequence or Structural Similarity 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 cytoplasm	ISS Inferred from Sequence or Structural Similarity 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
located_in nucleus	ISS Inferred from Sequence or Structural Similarity 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

EC 2.3.1.234

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)

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