CARNMT1 - carnosine N-methyltransferase 1 Gene

Homo sapiens

Also known as C9orf41; UPF0586

Gene ID: 138199 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01931	CARNMT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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