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

Gene ID: 55644, updated on 12-Jun-2025
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
Enables N(6)-L-threonylcarbamoyladenine synthase activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol and nucleoplasm. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 3. [provided by Alliance of Genome Resources, Jun 2025]
Expression
Ubiquitous expression in spleen (RPKM 14.4), lymph node (RPKM 12.5) and 25 other tissues See more
Orthologs
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See OSGEP in Genome Data Viewer
Location:
14q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20446401..20454812, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14643301..14651715, complement)
RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr14:20897153-20897785 Neighboring gene kelch like family member 33 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:20903872-20904781 Neighboring gene solute carrier family 12 member 3 pseudogene Neighboring gene OSGEP/APEX1 bi-directional promoter region Neighboring gene Sharpr-MPRA regulatory region 9617 Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:20928913-20929879 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:20929880-20930845 Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:20937332-20937836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8079 Neighboring gene purine nucleoside phosphorylase

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • FLJ20411

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 N(6)-L-threonylcarbamoyladenine synthase activity IEA
Inferred from Electronic Annotation
more info
 
enables acyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables acyltransferase activity, transferring groups other than amino-acyl groups 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 
enables transferase activity IEA
Inferred from Electronic Annotation
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 IDA
Inferred from Direct Assay
more info
PubMed 
part_of EKC/KEOPS complex IEA
Inferred from Electronic Annotation
more info
 
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 cytoplasm IEA
Inferred from Electronic Annotation
more info
 
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 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
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

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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_017807.4NP_060277.1  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
    Q6IAC3, Q9NPF4
    Related
    ENSP00000206542.4, ENST00000206542.9
    Conserved Domains (1) summary
    PTZ00340
    Location:4335
    PTZ00340; O-sialoglycoprotein endopeptidase-like protein; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    20446401..20454812 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791796.1 Reference GRCh38.p14 PATCHES

    Range
    649082..657493 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    14643301..14651715 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)