Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55644
Gene name Gene Name - the full gene name approved by the HGNC.	O-sialoglycoprotein endopeptidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	OSGEP
Synonyms (NCBI Gene) Gene synonyms aliases	GAMOS3, GCPL1, KAE1, OSGEP1, PRSMG1, TCS3
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q11.2

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140076803	A>G	Pathogenic	Missense variant, coding sequence variant
rs140583554	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs144732839	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs147548960	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200347983	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs374322839	G>A	Pathogenic	Coding sequence variant, missense variant
rs753237335	C>T	Pathogenic	Missense variant, coding sequence variant
rs761839638	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs773173317	C>T	Pathogenic	Coding sequence variant, missense variant
rs778931753	C>G	Pathogenic	Coding sequence variant, missense variant
rs1443735811	A>G	Pathogenic	Missense variant, coding sequence variant

Show/Hide all(38)

miRTarBase ID	miRNA	Experiments
MIRT1206590	hsa-miR-1273e	CLIP-seq
MIRT1206591	hsa-miR-1289	CLIP-seq
MIRT1206592	hsa-miR-1343	CLIP-seq
MIRT1206593	hsa-miR-137	CLIP-seq
MIRT1206594	hsa-miR-3170	CLIP-seq
MIRT1206595	hsa-miR-3198	CLIP-seq
MIRT1206596	hsa-miR-4294	CLIP-seq
MIRT1206597	hsa-miR-4309	CLIP-seq
MIRT1206598	hsa-miR-432	CLIP-seq
MIRT1206599	hsa-miR-4663	CLIP-seq
MIRT1206600	hsa-miR-4793-5p	CLIP-seq
MIRT1206601	hsa-miR-4796-5p	CLIP-seq
MIRT1206602	hsa-miR-587	CLIP-seq
MIRT1206603	hsa-miR-628-5p	CLIP-seq
MIRT1206592	hsa-miR-1343	CLIP-seq
MIRT1206593	hsa-miR-137	CLIP-seq
MIRT1206594	hsa-miR-3170	CLIP-seq
MIRT1206599	hsa-miR-4663	CLIP-seq
MIRT1206600	hsa-miR-4793-5p	CLIP-seq
MIRT1206603	hsa-miR-628-5p	CLIP-seq
MIRT1206592	hsa-miR-1343	CLIP-seq
MIRT1206593	hsa-miR-137	CLIP-seq
MIRT1206594	hsa-miR-3170	CLIP-seq
MIRT1206599	hsa-miR-4663	CLIP-seq
MIRT1206600	hsa-miR-4793-5p	CLIP-seq
MIRT1206603	hsa-miR-628-5p	CLIP-seq
MIRT2585978	hsa-miR-1267	CLIP-seq
MIRT2585979	hsa-miR-3664-5p	CLIP-seq
MIRT2585980	hsa-miR-3920	CLIP-seq
MIRT2585981	hsa-miR-4652-3p	CLIP-seq
MIRT2585982	hsa-miR-4714-5p	CLIP-seq
MIRT2585983	hsa-miR-4778-5p	CLIP-seq
MIRT2585978	hsa-miR-1267	CLIP-seq
MIRT2585979	hsa-miR-3664-5p	CLIP-seq
MIRT2585980	hsa-miR-3920	CLIP-seq
MIRT2585981	hsa-miR-4652-3p	CLIP-seq
MIRT2585982	hsa-miR-4714-5p	CLIP-seq
MIRT2585983	hsa-miR-4778-5p	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000408	Component	EKC/KEOPS complex	IBA
GO:0000408	Component	EKC/KEOPS complex	IDA	27903914, 28805828, 31481669
GO:0000408	Component	EKC/KEOPS complex	IEA
GO:0002949	Process	TRNA threonylcarbamoyladenosine modification	IDA	28805828
GO:0002949	Process	TRNA threonylcarbamoyladenosine modification	IEA
GO:0002949	Process	TRNA threonylcarbamoyladenosine modification	IMP	31481669
GO:0005515	Function	Protein binding	IPI	23414517, 23455922, 27903914, 28514442, 32296183, 32707033, 33961781
GO:0005634	Component	Nucleus	IDA	27903914, 28805828
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	28805828
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006400	Process	TRNA modification	IDA	34268557
GO:0006400	Process	TRNA modification	IDA	28805828
GO:0008033	Process	TRNA processing	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061711	Function	TRNA N(6)-L-threonylcarbamoyladenine synthase activity	IDA	28805828
GO:0061711	Function	TRNA N(6)-L-threonylcarbamoyladenine synthase activity	IEA

MIM	HGNC	e!Ensembl
610107	18028	ENSG00000092094

Protein

UniProt ID

Q9NPF4

Protein name

tRNA N6-adenosine threonylcarbamoyltransferase (EC 2.3.1.234) (N6-L-threonylcarbamoyladenine synthase) (t(6)A synthase) (O-sialoglycoprotein endopeptidase) (hOSGEP) (t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEP) (tRNA threonylcarbamoylade

Protein function

Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the th

PDB

6GWJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00814	TsaD	23 → 301	tRNA N6-adenosine threonylcarbamoyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed at low level. Expressed in heart, placenta, liver, kidney, lung, brain, skeletal muscle and pancreas. {ECO:0000269|PubMed:12039036}.

Sequence

MPAVLGFEGSANKIGVGVVRDGKVLANPRRTYVTPPGTGFLPGDTARHHRAVILDLLQEA
LTESGLTSQDIDCIAYTKGPGMGAPLVSVAVVARTVAQLWNKPLVGVNHCIGHIEMGRLI
TGATSPTVLYVSGGNTQVIAYSEHRYRIFGETIDIAVGNCLDRFARVLKISNDPSPGYNI
EQMAKRGKKLVELPYTVKGMDVSFSGILSFIEDVAHRMLATGECTPEDLCFSLQETVFAM
LVEITERAMAHCGSQEALIVGGVGCNVRLQEMMATMCQERGARLFATDERFCIDNGAMIA
QAGWEMFRAGHRTPLSDSGVTQRYRTDEVEVTWRD

Sequence length

335

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Galloway-Mowat Syndrome	galloway-mowat syndrome 3	rs374322839, rs773173317, rs140583554, rs753237335, rs140076803, rs1555331969, rs144732839, rs1443735811	N/A
Nephrotic Syndrome	nephrotic syndrome	rs773173317, rs1555331969	N/A

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acidosis Renal Tubular	Associate	15252044, 27767102
Autosomal Recessive Primary Microcephaly	Associate	30558655
Carcinoma Renal Cell	Associate	35373928
Death	Associate	30558655
Developmental Disabilities	Associate	28272532
Galloway Mowat syndrome	Associate	30558655, 33980730, 36856752
Heart Defects Congenital	Associate	26033827
Hypokalemia Familial	Associate	28272532
Lissencephaly	Associate	30558655
Nephrosis congenital	Associate	37845138
Nephrotic Syndrome	Associate	30558655
Neurodegenerative Diseases	Associate	28272532
Neurologic Manifestations	Associate	28272532
Plagiocephaly and X linked mental retardation	Associate	30558655
Prostatic Neoplasms	Associate	21824498
Proteinuria	Associate	28272532
Renal dysplasia limb defects syndrome	Associate	28272532
Renal tubular acidosis distal autosomal recessive	Associate	15252044

OSGEP (O-sialoglycoprotein endopeptidase)