OSGEPL1
tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial
Also known as: OSGEPL, OSGL1_HUMAN, Qri7
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H4B0
- Gene
- OSGEPL1
- Ensembl
- ENSG00000128694
- Chromosome
- 2
- Canonical length
- 414 aa
- Protein class
- Enzymes, Predicted intracellular proteins
- Subcellular location
- Mitochondria
OverviewNCBI Gene
Enables N(6)-L-threonylcarbamoyladenine synthase activity. Involved in tRNA threonylcarbamoyladenosine modification. Is active in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
414 residues, UniProt reviewed canonical sequence.
>Q9H4B0|OSGEPL1
1 MLILTKTAGV FFKPSKRKVY EFLRSFNFHP GTLFLHKIVL GIETSCDDTA AAVVDETGNV
61 LGEAIHSQTE VHLKTGGIVP PAAQQLHREN IQRIVQEALS ASGVSPSDLS AIATTIKPGL
121 ALSLGVGLSF SLQLVGQLKK PFIPIHHMEA HALTIRLTNK VEFPFLVLLI SGGHCLLALV
181 QGVSDFLLLG KSLDIAPGDM LDKVARRLSL IKHPECSTMS GGKAIEHLAK QGNRFHFDIK
241 PPLHHAKNCD FSFTGLQHVT DKIIMKKEKE EGIEKGQILS SAADIAATVQ HTMACHLVKR
301 THRAILFCKQ RDLLPQNNAV LVASGGVASN FYIRRALEIL TNATQCTLLC PPPRLCTDNG
361 IMIAWNGIER LRAGLGILHD IEGIRYEPKC PLGVDISKEV GEASIKVPQL KMEILocalizationUniProt · AlphaFold · HPA
Whether an antibody against OSGEPL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 12 nTPM
- tongue: 10 nTPM
- retina: 9.1 nTPM
- heart muscle: 8.3 nTPM
- ovary: 7.9 nTPM
- kidney: 7.8 nTPM
Single-cell type
- cardiomyocytes: 117 nCPM
- epicardial cells: 77 nCPM
- adipocytes: 48 nCPM
- myonuclei: 39 nCPM
- fibro-adipogenic progenitors: 35 nCPM
- rod photoreceptor cells: 28 nCPM
Immune cell
- naive CD4 T-cell: 11 nTPM
- MAIT T-cell: 11 nTPM
- naive CD8 T-cell: 11 nTPM
- naive B-cell: 9.9 nTPM
- memory CD8 T-cell: 8.6 nTPM
- memory CD4 T-cell: 7.8 nTPM
Brain region
- cerebellum: 13 nTPM
- white matter: 12 nTPM
- basal ganglia: 10 nTPM
- cerebral cortex: 9.9 nTPM
- medulla oblongata: 9.3 nTPM
- pons: 9.3 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.79
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Gcp-like domain
- Kae1/TsaD family
- ATPase, nucleotide binding domain
- tRNA N6-adenosine threonylcarbamoyltransferase
- tRNA N6-adenosine threonylcarbamoyltransferase, TsaD
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads OSGEPL1 as an antibody target. Whether an autoantibody or antibody against OSGEPL1 could matter depends on whether native OSGEPL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
OSGEPL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label OSGEPL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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