OSGEP O-sialoglycoprotein endopeptidase [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSGEPprovided by HGNC
Official Full Name: O-sialoglycoprotein endopeptidaseprovided by HGNC
Primary source: HGNC:HGNC:18028
See related: Ensembl:ENSG00000092094 MIM:610107; AllianceGenome:HGNC:18028
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KAE1; TCS3; GCPL1; GAMOS3; OSGEP1; PRSMG1
Summary: Predicted to enable N(6)-L-threonylcarbamoyladenine synthase activity and metal ion binding activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytoplasm; nuclear speck; and plasma membrane. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 3. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in spleen (RPKM 14.4), lymph node (RPKM 12.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (20446401..20454812, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (14643301..14651715, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (20914560..20922971, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The structural and functional workings of KEOPS.
Title: The structural and functional workings of KEOPS.
Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.
Title: Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.
This gene was recently identified as causative of Galloway-Mowat syndrome in a large cohort of 907 individuals with nephrotic syndrome.
Title: Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
Mutation in KAE1 interfering with global protein production was identified in two patients with developmental delay, renal defect and hypomagnesemia.
Title: tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Haplotype-based case-control study on human apurinic/apyrimidinic endonuclease 1/redox effector factor-1 gene and essential hypertension.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Galloway-Mowat syndrome 3 MedGen: C4540266 OMIM: 617729 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-144588 (e-PCR)
- UniSTS:172298

SHGC-154059 (e-PCR)
- UniSTS:182805

RH78615 (e-PCR)
- UniSTS:10378

GDB:451907 (e-PCR)
- UniSTS:157388

RH79816 (e-PCR)
- UniSTS:85725

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N(6)-L-threonylcarbamoyladenine synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in tRNA modification	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA threonylcarbamoyladenosine modification	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA threonylcarbamoyladenosine modification	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of EKC/KEOPS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of EKC/KEOPS complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tRNA N6-adenosine threonylcarbamoyltransferase

Names: N6-L-threonylcarbamoyladenine synthase; hOSGEP; 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_060277.1

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.