OSGEP - O-sialoglycoprotein endopeptidase Gene

Also Known as KAE1; TCS3; GCPL1; GAMOS3; OSGEP1; PRSMG1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55644

About OSGEP

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:20,446,401-20,454,812 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 14.4), lymph node (RPKM 12.5) and 25 other tissues.

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]

OSGEP Products (1)

mRNA	Protein	Name
NM_017807.4	NP_060277.1	tRNA N6-adenosine threonylcarbamoyltransferase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables N(6)-L-threonylcarbamoyladenine synthase activity	IDA IDA: Inferred from direct assay	28805828	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23414517	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in tRNA modification	IDA IDA: Inferred from direct assay	28805828	GOA
involved in tRNA threonylcarbamoyladenosine modification	IDA IDA: Inferred from direct assay	28805828	GOA
involved in tRNA threonylcarbamoyladenosine modification	IMP IMP: Inferred from mutant phenotype	31481669	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of EKC/KEOPS complex	IDA IDA: Inferred from direct assay	27903914	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	28805828	GOA
located in nucleus	IDA IDA: Inferred from direct assay	27903914	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OSGEP Protein Structure

Peptidase_M22

0
100
200
300
335 a.a.

Protein Preferred Names	Protein Names
tRNA N6-adenosine threonylcarbamoyltransferase	N6-L-threonylcarbamoyladenine synthase

OSGEP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	OSGEP	Q9NPF4	LAGE3	Homo sapiens	Q14657	Anti Bait CoIP	17353931
Intra	OSGEP	Q9NPF4	LAGE3	Homo sapiens	Q14657	Anti Tag CoIP	28514442
Intra	OSGEP	Q9NPF4	LAGE3	Homo sapiens	Q14657	Y2H Prey Pooling	32296183
Intra	OSGEP	Q9NPF4	LAGE3	Homo sapiens	Q14657	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Galloway-Mowat Syndrome 3	GAMOS3
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Galloway-Mowat Syndrome 1	Galloway Syndrome Nephrosis-Neuronal Dysmigration Syndrome Nephrosis-Microcephaly Syndrome Camos Scar5 GAMOS1 Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Microcephaly, Hiatal Hernia And Nephrotic Syndrome Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly Scar5, Formerly Spinocerebellar Ataxia Autosomal Recessive 5 Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities Camos Syndrome Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome Galloway-Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 5 Galloway Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive 5
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Kallmann Syndrome 2 Kal2 HH2 Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
Galloway-Mowat Syndrome 2
Cerebellar Hypoplasia
Hereditary Elliptocytosis	Congenital Elliptocytosis Ovalocytosis Elliptocytosis, Hereditary He Elliptocytosis Hereditary Congenital Ovalocytosis Elliptocytosis Hereditary Elliptocytosis With Infantile Poikilocytosis Hereditary Ovalocytosis Oval Erythrocytosis He - [Hereditary Elliptocytosis] Elliptocytosis Anaemia
Breast Osteosarcoma	Osteogenic Sarcoma Of Breast Breast Extraskeletal Osteosarcoma
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Bladder Calculus	Urinary Bladder Calculi Urinary Bladder Stone Bladder Calculi Bladder Stone Urinary Bladder Calculus Vesical Calculi Vesical Calculus Vesicolithiasis Cystolithiasis Cystic Calculi Cystic Calculus
Polymicrogyria	Pmg
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Pasteurellosis	Pasteurella Infection Pasteurella Infections Pasteurella Infectious Disease Shipping Fever Transport Fever
Hereditary Spherocytosis	Congenital Spherocytic Hemolytic Anemia Spherocytic Anemia Congenital Spherocytosis Spherocytosis, Type 1 Minkowski Chauffard Syndrome Hs Minkowski-Chauffard Disease Minkowski-Chauffard Syndrome Spherocytosis Hereditary Spherocytosis, Hereditary Anemia, Hereditary Spherocytic Hemolytic
Lower Urinary Tract Calculus	Calculus Of Lower Urinary Tract
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09848	OSGEP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	OSGEP	VGNC	VGNC:44163
Felis catus	OSGEP	VGNC	VGNC:63987
Macaca mulatta	OSGEP	VGNC	VGNC:75641
Rattus norvegicus	OSGEP	RGD	RGD:1308578
Mus musculus	OSGEP	MGD	MGI:1913496
Bos taurus	OSGEP	VGNC	VGNC:32470
Others	OSGEP	NCBI