CARNS1 - carnosine synthase 1 Gene

Also Known as ATPGD1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57571

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 References 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 References 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

ATP-grasp_4: ATP-grasp domain (506 - 698)

  • 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

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 Set / 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
Others CARNS1 NCBI