CARNS1 - carnosine synthase 1 Gene

Homo sapiens

Also known as ATPGD1

Gene ID: 57571 | Gene type: protein coding

About CARNS1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:67,415,678-67,425,604 (from NCBI)

This gene has 8 transcripts (splice variants), 83 orthologues and 2 paralogues. Biased expression in brain (RPKM 21.1), thyroid (RPKM 2.9) and 3 other tissues.

Summary

CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]

CARNS1 Products(5)

mRNA	Protein	Name
NM_001166222.2	NP_001159694.1	carnosine synthase 1 isoform 1
NM_001394577.1	NP_001381506.1	carnosine synthase 1 isoform 3
NM_001394578.1	NP_001381507.1	carnosine synthase 1 isoform 2
NM_001394579.1	NP_001381508.1	carnosine synthase 1 isoform 2
NM_020811.2	NP_065862.1	carnosine synthase 1 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	20097752	GOA
enables carnosine synthase activity	IDA IDA: Inferred from direct assay	20097752	GOA
enables homocarnosine synthase activity	IDA IDA: Inferred from direct assay	20097752	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within carnosine biosynthetic process	IDA IDA: Inferred from direct assay	20097752	GOA
involved in carnosine biosynthetic process	IDA IDA: Inferred from direct assay	20097752	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

CARNS1 Protein Structure

ATP-grasp_4

0
200
400
600
827 a.a.

Protein Preferred Names

Protein Names

carnosine synthase 1

ATP-grasp domain containing 1

Related Diseases

Diseases

Alias

Schizophrenia 4

SCZD4	Schizophrenia, Susceptibility To, 4
Schizophrenia Susceptibility Locus, Chromosome 22q11-Related	Schizophrenia Susceptibility Locus Chromosome 22-Related
Schizophrenia, 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-RS01932	CARNS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CARNS1	MGD	MGI:2147595
Felis catus	CARNS1	VGNC	VGNC:81911
Macaca mulatta	CARNS1	VGNC	VGNC:81367
Rattus norvegicus	CARNS1	RGD	RGD:1308234
Bos taurus	CARNS1	VGNC	VGNC:26772

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