CARNMT1 - carnosine N-methyltransferase 1 Gene

Also Known as C9orf41; UPF0586

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 138199

About CARNMT1

Cytogenetic location: 9q21.13 Genomic coordinates (GRCh38): 9:74,980,790-75,028,430 (from NCBI)

This gene has 3 transcripts (splice variants) and 203 orthologues. Ubiquitous expression in thyroid (RPKM 5.8), testis (RPKM 4.9) and 25 other tissues.

Summary

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]

CARNMT1 Products (2)

mRNA Protein Name
NM_001320497.2 NP_001307426.1 carnosine N-methyltransferase isoform 2
NM_152420.3 NP_689633.1 carnosine N-methyltransferase isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables S-adenosylmethionine-dependent methyltransferase activity IDA
IDA: Inferred from direct assay
29463897 GOA
enables carnosine N-methyltransferase activity IDA
IDA: Inferred from direct assay
26001783 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
29463897 GOA
Biological Process GO Annotation Evidence References Source
involved in carnosine metabolic process IDA
IDA: Inferred from direct assay
26001783 GOA
involved in carnosine metabolic process IMP
IMP: Inferred from mutant phenotype
29463897 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
26001783 GOA
located in nucleus IDA
IDA: Inferred from direct assay
26001783 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

CARNMT1 Protein Structure

N2227

N2227: N2227-like protein (146 - 408)

  • 0
  • 100
  • 200
  • 300
  • 409 a.a.
Protein Preferred Names Protein Names

carnosine N-methyltransferase

  • UPF0586 protein C9orf41

Related Diseases

Diseases Alias
Hypotrichosis 4

  • HYPT4

  • Marie Unna Hereditary Hypotrichosis 1

  • Muhh1

  • Hypotrichosis, Marie Unna Type, 1

  • Hypotrichosis Marie Unna 1

  • Marie Unna Hereditary Hypotrichosis Type 1

  • Hypotrichosis, Hereditary, Marie Unna Type, 1

  • Hypotrichosis, Type 4
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01931 CARNMT1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus CARNMT1 VGNC VGNC:60373
Macaca mulatta CARNMT1 VGNC VGNC:70613
Bos taurus CARNMT1 VGNC VGNC:26771
Rattus norvegicus CARNMT1 RGD RGD:1311863
Canis familiaris CARNMT1 VGNC VGNC:38725
Mus musculus CARNMT1 MGD MGI:1914633
Others CARNMT1 NCBI