METTL23 Gene Summary [Human]

The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Details

Type
Protein Coding
Official Symbol
METTL23
Official Name
methyltransferase like 23 [Source:HGNC Symbol;Acc:HGNC:26988]
Ensembl ID
ENSG00000181038
Bio databases IDs NCBI: 124512 Ensembl: ENSG00000181038
Aliases methyltransferase like 23
Synonyms 1110005A03Rik, 1500035B17Rik, 4933424L15Rik, C17orf95, methyltransferase 23, arginine, methyltransferase like 23, MRT44, RGD1306284
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 METTL23 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • histone methyltransferase
  • heat shock protein binding
  • transcription factor binding
  • protein binding
  • AdoMet_MTases
  • protein-arginine N-methyltransferase
  • methyltransferase domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal recessive mental retardation type 44
  • hereditary disorder
  • mental retardation
regulated by
regulates
  • DNA promoter
  • DNA endogenous promoter
  • RNA polymerase II

Subcellular Expression

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

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human METTL23 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cognition
  • peptidyl-lysine methylation
  • positive regulation of transcription from RNA polymerase II promoter
  • methylation

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • male pronucleus
  • cytoplasm
  • macromolecular complex
  • female pronucleus

Molecular Function

What the gene product does at the molecular level
  • protein-arginine omega-N asymmetric methyltransferase activity
  • heat shock protein binding
  • protein binding
  • histone methyltransferase activity (H3-R17 specific)
  • protein-lysine N-methyltransferase activity

Gene-Specific Assays for Results You Can Trust

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