Details for: OSGEP

Gene ID: 55644

Symbol: OSGEP

Ensembl ID: ENSG00000092094

Description: O-sialoglycoprotein endopeptidase

Associated with

Other Information

Genular Protein ID: 1921056997

Symbol: OSGEP_HUMAN

Name: N6-L-threonylcarbamoyladenine synthase

UniProtKB Accession Codes:

Q9NPF4 Q6IAC3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEBI 10 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HAMAP-Rule 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 3 SASBDB 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12039036

Title: Sequencing analysis of a putative human O-sialoglycoprotein endopeptidase gene (OSGEP) and analysis of a bidirectional promoter between the OSGEP and APEX genes.

PubMed ID: 12039036

DOI: 10.1016/s0378-1119(02)00429-8

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22912744

Title: The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin ligases by the human tumour antigen PRAME.

PubMed ID: 22912744

DOI: 10.1371/journal.pone.0042822

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 27903914

Title: Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7.

PubMed ID: 27903914

DOI: 10.1093/nar/gkw1181

PubMed ID: 28272532

Title: tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.

PubMed ID: 28272532

DOI: 10.1038/ejhg.2017.30

PubMed ID: 28805828

Title: Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

PubMed ID: 28805828

DOI: 10.1038/ng.3933

PubMed ID: 31481669

Title: Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

PubMed ID: 31481669

DOI: 10.1038/s41467-019-11951-x

Sequence Information:

  • Length: 335
  • Mass: 36427
  • Checksum: 54DCBBB26C03E8FB
  • Sequence:
    • MPAVLGFEGS ANKIGVGVVR DGKVLANPRR TYVTPPGTGF LPGDTARHHR AVILDLLQEA 
LTESGLTSQD IDCIAYTKGP GMGAPLVSVA VVARTVAQLW NKPLVGVNHC IGHIEMGRLI 
TGATSPTVLY VSGGNTQVIA YSEHRYRIFG ETIDIAVGNC LDRFARVLKI SNDPSPGYNI 
EQMAKRGKKL VELPYTVKGM DVSFSGILSF IEDVAHRMLA TGECTPEDLC FSLQETVFAM 
LVEITERAMA HCGSQEALIV GGVGCNVRLQ EMMATMCQER GARLFATDER FCIDNGAMIA 
QAGWEMFRAG HRTPLSDSGV TQRYRTDEVE VTWRD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.