FTSJ1 - FtsJ RNA 2'-O-methyltransferase 1 Gene

Also Known as JM23; MRX9; SPB1; CDLIV; MRX44; TRMT7; XLID9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 24140

About FTSJ1

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,476,021-48,486,364 (from NCBI)

This gene has 13 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 9.6), appendix (RPKM 8.4) and 25 other tissues.

Summary

This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

FTSJ1 Products (3)

mRNA	Protein	Name
NM_001282157.1	NP_001269086.1	putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform c
NM_012280.4	NP_036412.1	putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform a
NM_177439.3	NP_803188.1	putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables S-adenosyl-L-methionine binding	IDA IDA: Inferred from direct assay	32558197	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase activity	EXP EXP: Inferred from Experiment	25404562	GOA
enables tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase activity	IMP IMP: Inferred from mutant phenotype	26310293	GOA
enables tRNA (guanine) methyltransferase activity	IDA IDA: Inferred from direct assay	32558197	GOA
enables tRNA 2'-O-methyltransferase activity	EXP EXP: Inferred from Experiment	25404562	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cytoplasmic translation	IMP IMP: Inferred from mutant phenotype	32393790	GOA
involved in neurogenesis	IDA IDA: Inferred from direct assay	36720500	GOA
involved in tRNA methylation	IGI IGI: Inferred from genetic interaction	25404562	GOA
involved in tRNA methylation	IMP IMP: Inferred from mutant phenotype	36720500	GOA
involved in tRNA nucleoside ribose methylation	IMP IMP: Inferred from mutant phenotype	26310293	GOA
involved in wobble position ribose methylation	IDA IDA: Inferred from direct assay	32558197	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	32558197	GOA
located in nucleus	IDA IDA: Inferred from direct assay	32558197	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

FTSJ1 Protein Structure

FtsJ

0
100
200
300
329 a.a.

Protein Preferred Names	Protein Names
putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase	2'-O-ribose RNA methyltransferase TRM7 homolog

FTSJ1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FTSJ1	Q9UET6	CERT1	Homo sapiens	Q9Y5P4-2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked 9	XLID9 Mrx9 Mental Retardation, X-Linked 44 Mrx44
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Non-Syndromic X-Linked Intellectual Disability 9	Mrx44 Mrx9 X-Linked Mental Retardation 44
Chromosome 15q24 Deletion Syndrome	15q24 Microdeletion Syndrome Del(15)(Q24) Monosomy 15q24 15q24 Microdeletion 15q24 Deletion Interstitial Deletion Of Chromosome 15q24
Dubowitz Syndrome	Dubowitz'S Syndrome Dwarfism-Eczema-Peculiar Facies Syndrome Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci
Syndromic Intellectual Disability
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

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-177963	NV914	Inhibitor	98.98%	Unkown
HY-RS05139	FTSJ1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FTSJ1	VGNC	VGNC:62385
Rattus norvegicus	FTSJ1	RGD	RGD:1561061
Mus musculus	FTSJ1	MGD	MGI:1859648
Macaca mulatta	FTSJ1	VGNC	VGNC:72716
Canis familiaris	FTSJ1	VGNC	VGNC:49604
Others	FTSJ1	NCBI