Homo sapiens Gene: CARNS1
Summary
InnateDB Gene IDBG-60298.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CARNS1
Gene Name carnosine synthase 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000172508
Encoded Proteins
carnosine synthase 1
carnosine synthase 1
carnosine synthase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:67414968-67425607
Strand Forward strand
Band q13.2
Transcripts
ENST00000307823 ENSP00000308268
ENST00000445895 ENSP00000389009
ENST00000525907
ENST00000529925
ENST00000531040 ENSP00000431670
ENST00000531958
ENST00000531388
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0046872 metal ion binding
GO:0047730 carnosine synthase activity
Biological Process
GO:0006200 ATP catabolic process
GO:0035499 carnosine biosynthetic process
Cellular Component
GO:0005575 cellular_component
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Histidine metabolism pathway
Arginine and proline metabolism pathway
beta-Alanine metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.502982
RefSeq NM_001166222 NM_020811 XM_005274125
HUGO
OMIM
CCDS CCDS44658 CCDS53667
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas