AlphaFold predicted structure
OSGEP · Q9NPF4
Mean pLDDT
96.6/ 100
Very high
335 residues
Confidence breakdown
- Very high(≥ 90)97%
- Confident(70–90)3%
- Low(50–70)0%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
OSGEP
Chr 14q11.2O-sialoglycoprotein endopeptidase
- Aliases:
- PRSMG1, GCPL1, OSGEP1, KAE1, TCS3
- MANE:
- ENST00000206542.9
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalMalformations of cortical development
BIALLELIC, autosomal or pseudoautosomalProteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Galloway-Mowat syndrome
0.82neurodegenerative disease
0.53hereditary disease
0.48Intellectual disability
0.37neurodevelopmental disorder
0.34radioulnar synostosis with amegakaryocytic thrombocytopenia 2
0.27nephrotic syndrome
0.14retinitis pigmentosa
0.10congenital glaucoma
0.09early-onset non-syndromic cataract
0.09
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
tRNA N6-adenosine threonylcarbamoyltransferase
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 threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity