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] See more...

Aliases for CARNS1 Gene

Aliases for CARNS1 Gene

  • Carnosine Synthase 1 2 3 4 5
  • ATP-Grasp Domain-Containing Protein 1 3 4
  • ATP-Grasp Domain Containing 1 2 3
  • KIAA1394 2 4
  • ATPGD1 3 4
  • EC 6.3.2.11 4
  • CARNS1 5

External Ids for CARNS1 Gene

Previous HGNC Symbols for CARNS1 Gene

  • ATPGD1

Previous GeneCards Identifiers for CARNS1 Gene

  • GC11P067183
  • GC11P063511

Summaries for CARNS1 Gene

Entrez Gene Summary for CARNS1 Gene

  • 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]

GeneCards Summary for CARNS1 Gene

CARNS1 (Carnosine Synthase 1) is a Protein Coding gene. Among its related pathways are beta-Alanine metabolism (KEGG) and homocarnosine biosynthesis. Gene Ontology (GO) annotations related to this gene include ATPase activity and carnosine synthase activity. An important paralog of this gene is HAO1.

UniProtKB/Swiss-Prot Summary for CARNS1 Gene

  • Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine.

Additional gene information for CARNS1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CARNS1 Gene

Genomics for CARNS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CARNS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J067414 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 607.7 +3.3 3336 7 HNRNPL ZNF629 KDM1A BACH1 FOXA1 LARP7 ZNF143 ZIC2 RBFOX2 POLR2A CARNS1 RAD9A PTPRCAP SSH3 ANKRD13D C11orf80 PPP1CA lnc-CARNS1-2
GH11J067413 Promoter/Enhancer 0.8 Ensembl dbSUPER 610.7 -0.9 -867 1 TAL1 ZFP91 HDAC2 CBFA2T3 CARNS1 lnc-CARNS1-1 lnc-CARNS1-2 PPP1CA TBC1D10C
GH11J067482 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +70.3 70291 6.5 RNF2 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 REST ZNF629 TFE3 AIP piR-46501-012 PTPRCAP CARNS1 ALDH3B2 NUDT8 piR-49732-086 TMEM134 PITPNM1
GH11J067466 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 +53.3 53333 4.2 SP1 CREB1 GATAD2A HNRNPL ZNF629 TFE3 CTCF POLR2A JUND LARP7 AIP TMEM134 lnc-GPR152-1 PTPRCAP CARNS1
GH11J067400 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -8.8 -8752 12 HNRNPL ZBTB33 POLR2A ZNF7 BACH1 JUND FOXA1 LARP7 ZNF143 MTA2 TBC1D10C NONHSAG008795.2 PPP1CA SSH3 PTPRCAP CARNS1 RAD9A AIP lnc-CLCF1-2 MN309273
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CARNS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CARNS1

Genomic Locations for CARNS1 Gene

Genomic Locations for CARNS1 Gene
chr11:67,414,968-67,425,607
(GRCh38/hg38)
Size:
10,640 bases
Orientation:
Plus strand
chr11:67,182,439-67,193,078
(GRCh37/hg19)
Size:
10,640 bases
Orientation:
Plus strand

Genomic View for CARNS1 Gene

Genes around CARNS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARNS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARNS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARNS1 Gene

Proteins for CARNS1 Gene

  • Protein details for CARNS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A5YM72-CRNS1_HUMAN
    Recommended name:
    Carnosine synthase 1
    Protein Accession:
    A5YM72
    Secondary Accessions:
    • A8K1M3
    • B4DFC6
    • E9PK38
    • F5H427
    • Q8N467
    • Q9P2F3

    Protein attributes for CARNS1 Gene

    Size:
    827 amino acids
    Molecular mass:
    88484 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=ABQ59056.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA92632.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CARNS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CARNS1 Gene

Post-translational modifications for CARNS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CARNS1 Gene

No data available for DME Specific Peptides for CARNS1 Gene

Domains & Families for CARNS1 Gene

Gene Families for CARNS1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for CARNS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CARNS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61266 (B4DHZ3_HUMAN)
  • ATP-grasp domain-containing protein 1 (CRNS1_HUMAN)
genes like me logo Genes that share domains with CARNS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CARNS1 Gene

Function for CARNS1 Gene

Molecular function for CARNS1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + beta-alanine + L-histidine = ADP + carnosine + H(+) + phosphate; Xref=Rhea:RHEA:19297, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57485, ChEBI:CHEBI:57595, ChEBI:CHEBI:57966, ChEBI:CHEBI:456216; EC=6.3.2.11;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.09 mM for beta-alanine {ECO:0000269|PubMed:20097752}; KM=1.84 mM for gamma-aminobutyrate {ECO:0000269|PubMed:20097752}; KM=0.37 mM for L-histidine {ECO:0000269|PubMed:20097752}; KM=4.67 mM for L-lysine {ECO:0000269|PubMed:20097752}; KM=7.66 mM for L-ornithine {ECO:0000269|PubMed:20097752}; KM=24.7 mM for N-methylhistidine {ECO:0000269|PubMed:20097752}; Vmax=65.3 nmol/min/mg enzyme toward beta-alanine {ECO:0000269|PubMed:20097752}; Vmax=54.7 nmol/min/mg enzyme toward gamma-aminobutyrate {ECO:0000269|PubMed:20097752}; Vmax=0.76 nmol/min/mg enzyme toward L-histidine {ECO:0000269|PubMed:20097752}; Vmax=0.61 nmol/min/mg enzyme toward L-lysine {ECO:0000269|PubMed:20097752}; Vmax=0.28 nmol/min/mg enzyme toward L-ornithine {ECO:0000269|PubMed:20097752}; Vmax=0.62 nmol/min/mg enzyme toward N-methylhistidine {ECO:0000269|PubMed:20097752};

Enzyme Numbers (IUBMB) for CARNS1 Gene

Phenotypes From GWAS Catalog for CARNS1 Gene

Gene Ontology (GO) - Molecular Function for CARNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004459 L-lactate dehydrogenase activity IBA --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0016887 ATPase activity IDA 20097752
genes like me logo Genes that share ontologies with CARNS1: view
genes like me logo Genes that share phenotypes with CARNS1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARNS1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CARNS1 Gene

Localization for CARNS1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CARNS1 gene
Compartment Confidence
cytosol 4
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CARNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CARNS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CARNS1 Gene

Pathways & Interactions for CARNS1 Gene

genes like me logo Genes that share pathways with CARNS1: view

Interacting Proteins for CARNS1 Gene

Gene Ontology (GO) - Biological Process for CARNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006548 histidine catabolic process TAS --
GO:0019516 lactate oxidation IBA --
GO:0035499 carnosine biosynthetic process IBA,IDA 20097752
genes like me logo Genes that share ontologies with CARNS1: view

No data available for SIGNOR curated interactions for CARNS1 Gene

Drugs & Compounds for CARNS1 Gene

(10) Drugs for CARNS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
gamma-Aminobutyric acid Approved, Investigational Pharma 25
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
D-Lysine Approved, Experimental Nutra Agonist, Full agonist 0
Manganese Approved Nutra 56

(7) Additional Compounds for CARNS1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Methylhistidine
  • (2S)-2-amino-3-(1-Methyl-1H-imidazol-5-yl)propanoic acid
  • 3-Methyl-L-histidine
  • N(Pai)-methyl-L-histidine
  • N-pros-Methyl-L-histidine
  • Tau-methylhistidine
368-16-1
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
anserine
  • beta-Alanyl-3-methyl-L-histidine
  • beta-Alanyl-N(pai)-methyl-L-histidine
  • b-Alanyl-3-methyl-L-histidine
  • β-alanyl-3-methyl-L-histidine
  • b-Alanyl-N(pai)-methyl-L-histidine
584-85-0
beta-Alanyl-L-arginine
  • (2S)-5-{[amino(imino)methyl]amino}-2-[(3-aminopropanoyl)amino]pentanoic acid
  • BetaAla-arg
  • (2S)-5-{[amino(imino)methyl]amino}-2-[(3-aminopropanoyl)amino]pentanoate
  • b-Alanyl-L-arginine
  • β-alanyl-L-arginine
beta-Alanyl-L-lysine
  • BetaAla-lys
  • b-Alanyl-L-lysine
  • β-alanyl-L-lysine
genes like me logo Genes that share compounds with CARNS1: view

Transcripts for CARNS1 Gene

mRNA/cDNA for CARNS1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARNS1

Alternative Splicing Database (ASD) splice patterns (SP) for CARNS1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - -
SP2:
SP3:

Relevant External Links for CARNS1 Gene

GeneLoc Exon Structure for
CARNS1

Expression for CARNS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CARNS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CARNS1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x13.5), Brain - Substantia nigra (x7.5), and Brain - Hippocampus (x4.5).

Protein differential expression in normal tissues from HIPED for CARNS1 Gene

This gene is overexpressed in Heart (24.6), Frontal cortex (22.9), and Spinal cord (18.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CARNS1 Gene



Protein tissue co-expression partners for CARNS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CARNS1

SOURCE GeneReport for Unigene cluster for CARNS1 Gene:

Hs.502982

Evidence on tissue expression from TISSUES for CARNS1 Gene

  • Nervous system(4.7)
  • Kidney(4.2)
  • Muscle(2.6)
  • Blood(2.5)
genes like me logo Genes that share expression patterns with CARNS1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CARNS1 Gene

Orthologs for CARNS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CARNS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CARNS1 30 31
  • 99.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CARNS1 30 31
  • 88.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CARNS1 30 31
  • 87.38 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CARNS1 31
  • 84 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Carns1 30 17 31
  • 83.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Carns1 30
  • 83.16 (n)
Oppossum
(Monodelphis domestica)
Mammalia CARNS1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CARNS1 30
  • 64.29 (n)
Lizard
(Anolis carolinensis)
Reptilia CARNS1 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487967 30
  • 51.11 (n)
Species where no ortholog for CARNS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CARNS1 Gene

ENSEMBL:
Gene Tree for CARNS1 (if available)
TreeFam:
Gene Tree for CARNS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CARNS1: view image

Paralogs for CARNS1 Gene

Paralogs for CARNS1 Gene

genes like me logo Genes that share paralogs with CARNS1: view

Variants for CARNS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CARNS1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs17853668 - p.Met498Leu
rs868167 - p.Pro14Thr

Additional dbSNP identifiers (rs#s) for CARNS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CARNS1 Gene

Variant ID Type Subtype PubMed ID
dgv1977n54 CNV loss 21841781
dgv52n111 CNV deletion 26073780
nsv468604 CNV loss 19166990
nsv516453 CNV loss 19592680
nsv521723 CNV loss 19592680
nsv524096 CNV loss 19592680
nsv555255 CNV loss 21841781

Variation tolerance for CARNS1 Gene

Gene Damage Index Score: 8.17; 84.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CARNS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARNS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARNS1 Gene

Disorders for CARNS1 Gene

No disorders were found for CARNS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CARNS1 Gene

Publications for CARNS1 Gene

  1. Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1). (PMID: 20097752) Drozak J … Van Schaftingen E (The Journal of biological chemistry 2010) 2 3 4
  2. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
  3. Intrinsic carnosine metabolism in the human kidney. (PMID: 26206726) Peters V … de Heer E (Amino acids 2015) 3
  4. Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as β-alanyl-lysine dipeptidase. (PMID: 24891507) Veiga-da-Cunha M … Van Schaftingen E (The Journal of biological chemistry 2014) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for CARNS1 Gene

  • Signalway ELISA kits for CARNS1
  • Signalway Proteins for CARNS1

Sources for CARNS1 Gene