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Aliases for CARNS1 Gene

Aliases for CARNS1 Gene

  • Carnosine Synthase 1 2 3
  • ATPGD1 3 4 6
  • ATP-Grasp Domain-Containing Protein 1 3 4
  • ATP-Grasp Domain Containing 1 2 3
  • KIAA1394 4 6
  • EC 6.3.2.11 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 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 Arginine and proline metabolism and beta-Alanine metabolism (KEGG). 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CARNS1 Gene

Start:
67,414,968 bp from pter
End:
67,425,607 bp from pter
Size:
10,640 bases
Orientation:
Plus strand

Genomic View for CARNS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CARNS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARNS1 Gene

No data available for Regulatory Elements 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; Note=Binds 2 manganese ions per subunit.;
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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 for CARNS1 Gene

Protein Domains for CARNS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CARNS1 Gene

Graphical View of Domain Structure for InterPro Entry

A5YM72

UniProtKB/Swiss-Prot:

CRNS1_HUMAN :
  • A5YM72
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

Gene Ontology (GO) - Molecular Function for CARNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IDA 20097752
GO:0046872 metal ion binding IEA --
GO:0047730 carnosine synthase activity IDA 20097752
genes like me logo Genes that share ontologies with CARNS1: view

Animal Model Products

CRISPR Products

miRNA for CARNS1 Gene

miRTarBase miRNAs that target CARNS1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CARNS1 Gene

Localization for CARNS1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CARNS1 Gene COMPARTMENTS Subcellular localization image for CARNS1 gene
Compartment Confidence
plasma membrane 2
cytosol 1

Gene Ontology (GO) - Cellular Components for CARNS1 Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CARNS1 Gene

Pathways for CARNS1 Gene

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

Pathways by source for CARNS1 Gene

Gene Ontology (GO) - Biological Process for CARNS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0035499 carnosine biosynthetic process IDA 20097752
genes like me logo Genes that share ontologies with CARNS1: view

Compounds for CARNS1 Gene

(1) HMDB Compounds for CARNS1 Gene

Compound Synonyms Cas Number PubMed IDs
Manganese
  • manganese
7439-96-5
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CARNS1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CARNS1
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
CARNS1

Expression for CARNS1 Gene

mRNA expression in normal human tissues for CARNS1 Gene

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

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (13.5), Brain - Substantia nigra (7.5), and Brain - Hippocampus (4.5).

Integrated Proteomics: protein expression 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 expressions with CARNS1: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia CARNS1 35
  • 99.06 (n)
  • 98.6 (a)
CARNS1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CARNS1 35
  • 88.3 (n)
  • 90.25 (a)
CARNS1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CARNS1 35
  • 87.38 (n)
  • 89.4 (a)
CARNS1 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Carns1 35
  • 83.3 (n)
  • 83.93 (a)
Carns1 16
Carns1 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CARNS1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CARNS1 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Carns1 35
  • 83.16 (n)
  • 84.11 (a)
chicken
(Gallus gallus)
Aves CARNS1 35
  • 64.29 (n)
  • 56.86 (a)
lizard
(Anolis carolinensis)
Reptilia CARNS1 36
  • 57 (a)
OneToOne
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

ENSEMBL:
Gene Tree for CARNS1 (if available)
TreeFam:
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 MAF
rs868167 - 67,418,800(+) AGGTG(A/C)CAGCA missense, reference
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
rs1626067 -- 67,425,084(+) GCTCT(A/G)AAGCC utr-variant-3-prime

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

Relevant External Links for CARNS1 Gene

HapMap Linkage Disequilibrium report
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 UniProtKB/Swiss-Prot 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
  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 Res. 2000) 3 4
  3. 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
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4

Products for CARNS1 Gene

Sources for CARNS1 Gene

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