FTSJ1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
FTSJ1
Official Name
FtsJ RNA 2'-O-methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:13254]
Ensembl ID
ENSG00000068438
Bio databases IDs NCBI: 24140 Ensembl: ENSG00000068438
Aliases FtsJ RNA 2'-O-methyltransferase 1, tRNA methyltransferase 7 homolog (S. cerevisiae)
Synonyms CDLIV, FTSJ, Ftsjl, FtsJ RNA 2'-O-methyltransferase 1, JM23, MRX44, MRX9, RGD1561061, Sfc12, SPB1, TRMT7, XLID9
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FTSJ1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • methyltransferase
  • O-methyltransferase
  • tRNA methyltransferase
  • binding protein
  • tRNA (guanine) methyltransferase
  • RNA methyltransferase
  • viral Cap-0 specific (nucleoside-2'-O-)-methyltransferase
  • enzyme
  • protein binding
  • tRNA (cytosine)-methyltransferase
  • AdoMet_MTases
  • methyltransferase domain

Pathways

Biological processes and signaling networks where the FTSJ1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • non-small cell lung cancer
  • X-linked mental retardation type 9
  • hereditary disorder
  • X-linked complex neurodevelopmental disorder
  • mental retardation
regulated by
regulates
role in cell
  • expression in
  • apoptosis
  • proliferation
  • migration
  • abnormal morphology
  • long-term potentiation
  • plasticity
  • long term synaptic depression

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Nucleus
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human FTSJ1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • tRNA nucleoside ribose methylation
  • cytoplasmic translation
  • wobble position ribose methylation
  • neurogenesis
  • tRNA methylation
  • tRNA modification

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytoplasm
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • tRNA methyltransferase activity
  • tRNA (guanine) methyltransferase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.