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Aliases for CARNS1 Gene

Aliases for CARNS1 Gene

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

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, 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 Histidine metabolism and homocarnosine biosynthesis. GO annotations related to this gene include ATPase activity and carnosine synthase activity.

UniProtKB/Swiss-Prot for CARNS1 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CARNS1 Gene

Genomics for CARNS1 Gene

Regulatory Elements for CARNS1 Gene

Enhancers for CARNS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CARNS1 on UCSC Golden Path with GeneCards custom track

Promoters for CARNS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CARNS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CARNS1 Gene

67,414,968 bp from pter
67,425,607 bp from pter
10,640 bases
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:
    Recommended name:
    Carnosine synthase 1
    Protein Accession:
    Secondary Accessions:
    • A8K1M3
    • B4DFC6
    • E9PK38
    • F5H427
    • Q8N467
    • Q9P2F3

    Protein attributes for CARNS1 Gene

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

    Alternative splice isoforms for CARNS1 Gene


neXtProt entry for CARNS1 Gene

Proteomics data for CARNS1 Gene at MOPED

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

Protein Domains for CARNS1 Gene

Suggested Antigen Peptide Sequences for CARNS1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 ATP-grasp domain.
  • Contains 1 ATP-grasp domain.
genes like me logo Genes that share domains with CARNS1: view

No data available for Gene Families for CARNS1 Gene

Function for CARNS1 Gene

Molecular function for CARNS1 Gene

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};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-histidine + beta-alanine = ADP + phosphate + carnosine.
UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine.

Enzyme Numbers (IUBMB) for CARNS1 Gene

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

Animal Model Products

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CARNS1 Gene

Localization for CARNS1 Gene

Subcellular locations from

Jensen Localization Image for CARNS1 Gene COMPARTMENTS Subcellular localization image for CARNS1 gene
Compartment Confidence
cytosol 4
plasma membrane 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CARNS1 Gene

Pathways & Interactions for CARNS1 Gene

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

Gene Ontology (GO) - Biological Process for CARNS1 Gene


No data available for SIGNOR curated interactions for CARNS1 Gene

Drugs & Compounds for CARNS1 Gene

(9) Drugs for CARNS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
L-Arginine Approved Nutra Full agonist, Agonist 0
L-Histidine Approved Nutra 0
L-Lysine Approved Nutra Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (2S)-2-amino-3-(1-methyl-1H-imidazol-5-yl)propanoate
  • (2S)-2-amino-3-(1-methyl-1H-imidazol-5-yl)propanoic acid
  • 3-Methyl-L-histidine
  • 3-Methylhistidine
  • 3-N-Methyl-L-histidine
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
  • Anserine
  • beta-Alanyl-N(pai)-methyl-L-histidine
  • L-Anserine
  • L-N-b-Alanyl-3-methyl-Histidine
  • L-N-beta-Alanyl-3-methyl-Histidine
genes like me logo Genes that share compounds with CARNS1: view

Transcripts for CARNS1 Gene

Unigene Clusters for CARNS1 Gene

Carnosine synthase 1:
Representative Sequences:

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: - -

Relevant External Links for CARNS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CARNS1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for CARNS1 Gene

SOURCE GeneReport for Unigene cluster for CARNS1 Gene Hs.502982

genes like me logo Genes that share expression patterns with CARNS1: view

Protein tissue co-expression partners for CARNS1 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
(Bos Taurus)
Mammalia CARNS1 35
  • 88.3 (n)
  • 90.25 (a)
  • 87 (a)
(Canis familiaris)
Mammalia CARNS1 35
  • 87.38 (n)
  • 89.4 (a)
  • 61 (a)
(Mus musculus)
Mammalia Carns1 35
  • 83.3 (n)
  • 83.93 (a)
Carns1 16
Carns1 36
  • 84 (a)
(Pan troglodytes)
Mammalia CARNS1 35
  • 99.06 (n)
  • 98.6 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Carns1 35
  • 83.16 (n)
  • 84.11 (a)
(Monodelphis domestica)
Mammalia CARNS1 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia CARNS1 36
  • 84 (a)
(Gallus gallus)
Aves CARNS1 35
  • 64.29 (n)
  • 56.86 (a)
(Anolis carolinensis)
Reptilia CARNS1 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487967 35
  • 51.11 (n)
  • 48.43 (a)
Species with no ortholog for CARNS1:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for CARNS1 (if available)
Gene Tree for CARNS1 (if available)

Paralogs for CARNS1 Gene

No data available for Paralogs for CARNS1 Gene

Variants for CARNS1 Gene

Sequence variations from dbSNP and Humsavar for CARNS1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs868167 - 67,418,800(+) AGGTG(A/C)CAGCA reference, missense
rs17853668 - 67,423,609(+) CTGCC(A/G/T)TGCGC downstream-variant-500B, reference, missense
rs887318 -- 67,416,735(+) CCTCC(C/T)AGCAG intron-variant, utr-variant-5-prime
rs1115051 -- 67,414,912(-) CTCTA(C/T)AAAAA upstream-variant-2KB
rs1115052 -- 67,414,900(-) AAAAA(A/T)TTTAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv897796 CNV Loss 21882294
nsv897797 CNV Loss 21882294
nsv897801 CNV Loss 21882294
nsv897804 CNV Gain 21882294
dgv1193n71 CNV Loss 21882294
dgv1194n71 CNV Loss 21882294
nsv516453 CNV Loss 19592680
dgv1195n71 CNV Loss 21882294
nsv897811 CNV Loss 21882294
nsv521723 CNV Loss 19592680
nsv524096 CNV Loss 19592680
nsv468604 CNV Loss 19166990

Variation tolerance for CARNS1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CARNS1 Gene

Disorders for CARNS1 Gene

Relevant External Links for CARNS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

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. (J. Biol. Chem. 2010) 2 3 4 67
  2. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PMID: 12421765) Nakayama M. … Ohara O. (Genome Res. 2002) 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  4. 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 Res. 2000) 3

Products for CARNS1 Gene

Sources for CARNS1 Gene