CARNMT1 (carnosine N-methyltransferase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 138199
Gene name Carnosine N-methyltransferase 1
Gene symbol CARNMT1
Synonyms (NCBI Gene)
C9orf41UPF0586
Chromosome 9
Chromosome location 9q21.13
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 isof
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT639332 hsa-miR-208a-5p HITS-CLIP 23824327
MIRT639331 hsa-miR-208b-5p HITS-CLIP 23824327
MIRT639330 hsa-miR-8060 HITS-CLIP 23824327
MIRT639329 hsa-miR-3928-5p HITS-CLIP 23824327
MIRT639328 hsa-miR-6806-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 26001783
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616552 23435 ENSG00000156017
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N4J0
Protein name Carnosine N-methyltransferase (EC 2.1.1.22)
Protein function N-methyltransferase that catalyzes the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L-histidine), is an abundant constituent of vertebrate skeletal muscl
PDB 5YF0 , 5YF1 , 5YF2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07942 N2227 144 → 409 N2227-like protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed at higher level in kidney. Expressed at lower level in brain and skeletal muscle. {ECO:0000269|PubMed:26001783}.
Sequence
Sequence length 409
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Histidine metabolism
Metabolic pathways 		  Histidine catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic rs1822581744 RCV001291078
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)