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

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 24140 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

FtsJ: FtsJ-like methyltransferase (21 - 199)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05139 FTSJ1 Human Pre-designed siRNA Set A Pre-designed Sets / 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