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
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
Expression: Ubiquitous expression in spleen (RPKM 14.4), lymph node (RPKM 12.5) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 14q11.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	14	NC_000014.9 (20446401..20454812, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (20915207..20923267, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

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.

Submit: New GeneRIF Correction

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

Homology

Homologs of the OSGEP gene: The OSGEP gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 265 organisms have orthologs with human gene OSGEP
Orthologs

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
tRNA threonylcarbamoyladenosine modification	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
EKC/KEOPS complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
EKC/KEOPS complex	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
nuclear speck	IDA Inferred from Direct Assay more info
nucleoplasm	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: probable tRNA N6-adenosine threonylcarbamoyltransferase

Names: N6-L-threonylcarbamoyladenine synthase; hOSGEP; probable O-sialoglycoprotein endopeptidase; 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.

mRNA and Protein(s)

NM_017807.4 → NP_060277.1 probable tRNA N6-adenosine threonylcarbamoyltransferase

See identical proteins and their annotated locations for NP_060277.1

Status: VALIDATED

Source sequence(s)

AL355075, CD365329

Consensus CDS

CCDS9549.1

UniProtKB/Swiss-Prot

Q9NPF4

Related

ENSP00000206542.4, ENST00000206542.9

Conserved Domains (1) summary

PTZ00340
Location:4 → 335

PTZ00340; O-sialoglycoprotein endopeptidase-like protein; Provisional