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

Gene ID: 55644, updated on 23-Nov-2021

Summary

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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
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Genomic context

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See OSGEP in Genome Data Viewer
Location:
14q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (20446401..20454812, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20914560..20922971, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene kelch like family member 33 Neighboring gene solute carrier family 12 member 3 pseudogene Neighboring gene OSGEP/APEX1 bi-directional promoter region Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 1 Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 Neighboring gene purine nucleoside phosphorylase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature. Domingo-Gallego A, et al. BMC Nephrol, 2019 Apr 11. PMID 30975089, Free PMC Article
  2. Cleavage of misfolded nuclear receptor corepressor confers resistance to unfolded protein response-induced apoptosis. Ng AP, et al. Cancer Res, 2006 Oct 15. PMID 17047052
  3. tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy. Edvardson S, et al. Eur J Hum Genet, 2017 May. PMID 28272532, Free PMC Article
  4. Tonsillar B cells do not express PSGL-1, but a significant fraction displays the cutaneous lymphocyte antigen and exhibits effective E- and P-selectin ligand activity. Armerding D, et al. Int Arch Allergy Immunol, 2001 Sep. PMID 11641609
  5. Episialin acts as an antiadhesive factor in an in vitro model of human endometrial-blastocyst attachment. Chervenak JL, et al. Biol Reprod, 2000 Jul. PMID 10859271

See all (46) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20411

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N(6)-L-threonylcarbamoyladenine synthase activity IEA
Inferred from Electronic Annotation
more info
  
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 threonylcarbamoyladenosine modification IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of EKC/KEOPS complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear speck 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 
located_in 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

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_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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    20446401..20454812 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NPF4.1 GenPept UniProtKB/Swiss-Prot:Q9NPF4

Gene LinkOut

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

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