CARNMT1 Gene Summary [Human]

The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Details

Type
Protein Coding
Official Symbol
CARNMT1
Official Name
carnosine N-methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:23435]
Ensembl ID
ENSG00000156017
Bio databases IDs NCBI: 138199 Ensembl: ENSG00000156017
Aliases carnosine N-methyltransferase 1
Synonyms 2410127L17Rik, C9orf41, carnosine N-methyltransferase 1, RGD1311863, UPF0586
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 CARNMT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • carnosine N-methyltransferase
  • protein homodimerization
  • enzyme
  • protein binding
  • AdoMet_MTases
  • S-adenosylmethionine-dependent methyltransferase

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • mental retardation
regulated by
  • lipopolysaccharide
  • topotecan
  • RYR1
regulates
  • L-histidine
  • carnosine

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 CARNMT1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • carnosine metabolic process
  • histidine catabolic process
  • methylation

Cellular Component

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

Molecular Function

What the gene product does at the molecular level
  • carnosine N-methyltransferase activity
  • protein homodimerization activity
  • protein binding
  • S-adenosylmethionine-dependent 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.