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

    Gene ID: 55644, updated on 25-Jan-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
    NEW
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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_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_000014.9Genomic 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
    • 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)

    NEW Try the new Transcript table

    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_2023_10

    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)