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

Gene ID: 55644, updated on 19-Sep-2024

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
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Genomic context

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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
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

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

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_017807.4NP_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)