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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 6.3.2.11 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 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 Metabolism and Arginine and proline metabolism. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F067385 0.6 Ensembl 22.9 -29.7 -29668 0.6 PRDM10 CARNS1 RN7SKP239 POLD4 SSH3 PPP1CA PTPRCAP RPS6KB2 ENSG00000255949 PIR46028 ENSG00000275484
GH11F067378 0.6 Ensembl ENCODE 22.8 -34.3 -34268 5.0 HDGF ATF1 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A ZNF48 ZNF2 ZNF121 PTPRCAP CARNS1 SSH3 POLD4 PPP1CA RPS6KB2 ENSG00000255949 RBM4B TBC1D10C RAD9A
GH11F067316 0.5 ENCODE 11.7 -97.4 -97398 2.3 HDGF CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 ZNF263 CLCF1 MRPL11 LRP5 RHOD GRK2 SSH3 POLD4 RN7SKP239 ENSG00000256514 RNU6-1238P
GH11F067347 1.1 Ensembl ENCODE 11.6 -65.9 -65868 2.6 PKNOX1 ARNT CREB3L1 ARID4B ZNF48 YY1 ELK1 GATA2 JUNB NCOA1 ENSG00000258297 ENSG00000256514 CLCF1 RBM4B RAD9A RNU6-1238P TBC1D10C SSH3 CARNS1 PPP1CA
GH11F067433 1.2 Ensembl ENCODE 11.4 +28.0 28036 20.0 HDGF ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS ZNF263 PTPRCAP CARNS1 ANKRD13D SSH3 CORO1B
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001769449 732 601 ZNF664 CTCF KLF1 ZNF48

Genomic Location for CARNS1 Gene

Chromosome:
11
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

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=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

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

A5YM72

UniProtKB/Swiss-Prot:

CRNS1_HUMAN :
  • Contains 1 ATP-grasp domain.
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:0016874 ligase activity IEA --
GO:0016887 ATPase activity IEA,IDA 20097752
GO:0046872 metal ion binding IEA --
GO:0047730 carnosine synthase activity IEA,TAS --
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

Inhibitory RNA Products

Flow Cytometry Products

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

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 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006548 histidine catabolic process TAS --
GO:0035499 carnosine biosynthetic process IEA,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

(9) Drugs for CARNS1 Gene - From: HMDB

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

(8) 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)propanoate
  • (2S)-2-amino-3-(1-methyl-1H-imidazol-5-yl)propanoic acid
  • 3-Methyl-L-histidine
  • 3-Methylhistidine
  • 3-N-Methyl-L-histidine
368-16-1
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
anserine
  • Anserine
  • beta-Alanyl-N(pai)-methyl-L-histidine
  • L-Anserine
  • L-N-b-Alanyl-3-methyl-Histidine
  • L-N-beta-Alanyl-3-methyl-Histidine
584-85-0
beta-Alanyl-L-arginine
beta-Alanyl-L-lysine
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:

Inhibitory RNA Products

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 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



Protein tissue co-expression partners for CARNS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CARNS1 Gene:

CARNS1

SOURCE GeneReport for Unigene cluster for CARNS1 Gene:

Hs.502982
genes like me logo Genes that share expression patterns with CARNS1: view

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
chimpanzee
(Pan troglodytes)
Mammalia CARNS1 34 35
  • 99.06 (n)
cow
(Bos Taurus)
Mammalia CARNS1 34 35
  • 88.3 (n)
dog
(Canis familiaris)
Mammalia CARNS1 34 35
  • 87.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CARNS1 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Carns1 34 16 35
  • 83.3 (n)
rat
(Rattus norvegicus)
Mammalia Carns1 34
  • 83.16 (n)
oppossum
(Monodelphis domestica)
Mammalia CARNS1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CARNS1 34
  • 64.29 (n)
lizard
(Anolis carolinensis)
Reptilia CARNS1 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487967 34
  • 51.11 (n)
Species where no ortholog for CARNS1 was found in the sources mined by GeneCards:
  • 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
rs10896173 -- 67,414,176(+) CAAAA(A/C)CAAAA upstream-variant-2KB
rs10896174 -- 67,414,377(+) GGGAT(A/G)GGGTC upstream-variant-2KB
rs111229064 -- 67,425,410(+) CCCTC(A/C)TATGC utr-variant-3-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
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)

Relevant External Links 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

Relevant External Links for CARNS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARNS1

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 64
  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 64
  3. Intrinsic carnosine metabolism in the human kidney. (PMID: 26206726) Peters V. … de Heer E. (Amino Acids 2015) 3 64
  4. Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as I^-alanyl-lysine dipeptidase. (PMID: 24891507) Veiga-da-Cunha M. … Van Schaftingen E. (J. Biol. Chem. 2014) 3 64
  5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 4 64

Products for CARNS1 Gene

Sources for CARNS1 Gene

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