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Aliases for CANT1 Gene

Aliases for CANT1 Gene

  • Calcium Activated Nucleotidase 1 2 3
  • Putative NF-Kappa-B-Activating Protein 107 3 4
  • Putative MAPK-Activating Protein PM09 3 4
  • Apyrase Homolog 3 4
  • SCAN-1 3 4
  • SCAN1 3 6
  • SHAPY 3 4
  • DBQD 3 6
  • Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification 3
  • Ca2+-Dependent Endoplasmic Reticulum Nucleoside Diphosphatase 3
  • Soluble Calcium-Activated Nucleotidase SCAN-1 3
  • Soluble Ca-Activated Nucleotidase, Isozyme 1 3
  • Soluble Calcium-Activated Nucleotidase 1 3
  • Soluble Ca-Activated Nucleotidase 2
  • EC 3.6.1.6 4
  • Isozyme 1 2

External Ids for CANT1 Gene

Summaries for CANT1 Gene

Entrez Gene Summary for CANT1 Gene

  • This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]

GeneCards Summary for CANT1 Gene

CANT1 (Calcium Activated Nucleotidase 1) is a Protein Coding gene. Diseases associated with CANT1 include desbuquois dysplasia and chagas disease. Among its related pathways are Purine metabolism (KEGG) and TNF Signaling. GO annotations related to this gene include calcium ion binding and uridine-diphosphatase activity.

UniProtKB/Swiss-Prot for CANT1 Gene

  • Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP. Involved in proteoglycan synthesis.

Gene Wiki entry for CANT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CANT1 Gene

Genomics for CANT1 Gene

Genomic Location for CANT1 Gene

Start:
78,991,716 bp from pter
End:
79,009,867 bp from pter
Size:
18,152 bases
Orientation:
Minus strand

Genomic View for CANT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CANT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CANT1 Gene

Regulatory Elements for CANT1 Gene

Proteins for CANT1 Gene

  • Protein details for CANT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVQ1-CANT1_HUMAN
    Recommended name:
    Soluble calcium-activated nucleotidase 1
    Protein Accession:
    Q8WVQ1
    Secondary Accessions:
    • B4DJ54
    • Q7Z2J7
    • Q8NG05
    • Q8NHP0
    • Q9BSD5

    Protein attributes for CANT1 Gene

    Size:
    401 amino acids
    Molecular mass:
    44840 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • Not inhibited by azide
    SequenceCaution:
    • Sequence=AAM94564.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CANT1 Gene

    Alternative splice isoforms for CANT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CANT1 Gene

Proteomics data for CANT1 Gene at MOPED

Post-translational modifications for CANT1 Gene

No data available for DME Specific Peptides for CANT1 Gene

Domains for CANT1 Gene

Protein Domains for CANT1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CANT1_HUMAN
Family:
  • Belongs to the apyrase family.:
    • Q8WVQ1
genes like me logo Genes that share domains with CANT1: view

No data available for Gene Families for CANT1 Gene

Function for CANT1 Gene

Molecular function for CANT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: pH dependence: Optimum pH is 6.8.;
UniProtKB/Swiss-Prot CatalyticActivity: A nucleoside diphosphate + H(2)O = a nucleoside phosphate + phosphate
UniProtKB/Swiss-Prot Function: Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP. Involved in proteoglycan synthesis.

Enzyme Numbers (IUBMB) for CANT1 Gene

Gene Ontology (GO) - Molecular Function for CANT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IMP 12761501
GO:0005509 calcium ion binding IEA --
GO:0016462 pyrophosphatase activity --
GO:0045134 uridine-diphosphatase activity IEA --
genes like me logo Genes that share ontologies with CANT1: view

miRNA for CANT1 Gene

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CANT1 Gene

Localization for CANT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CANT1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Processed form: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CANT1 Gene COMPARTMENTS Subcellular localization image for CANT1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
cytoskeleton 1
cytosol 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CANT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus --
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CANT1: view

Pathways for CANT1 Gene

genes like me logo Genes that share pathways with CANT1: view

Pathways by source for CANT1 Gene

1 Sino Biological pathway for CANT1 Gene
1 BioSystems pathway for CANT1 Gene
2 KEGG pathways for CANT1 Gene

Gene Ontology (GO) - Biological Process for CANT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IMP 12761501
GO:0008152 metabolic process --
GO:0030166 proteoglycan biosynthetic process IMP 22539336
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IMP 12761501
genes like me logo Genes that share ontologies with CANT1: view

Compounds for CANT1 Gene

(22) HMDB Compounds for CANT1 Gene

Compound Synonyms Cas Number PubMed IDs
5-Thymidylic acid
  • 2'-Deoxythymidine 5'-monophosphate
365-07-1
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Calcium
  • Ca
7440-70-2

(2) Drugbank Compounds for CANT1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Phosphomethylphosphonic Acid Guanosyl Ester
target
Tris(Hydroxymethyl)Aminomethane
target

(81) Novoseek inferred chemical compound relationships for CANT1 Gene

Compound -log(P) Hits PubMed IDs
adp 85.7 90
suramin 81.3 35
atp 80.3 110
mrs2179 74.8 1
grgds 72.4 1
genes like me logo Genes that share compounds with CANT1: view

Transcripts for CANT1 Gene

Unigene Clusters for CANT1 Gene

Calcium activated nucleotidase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CANT1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9 ^ 10 ^
SP1: - - - - - - -
SP2: - -
SP3: - - - - - -
SP4: - - -
SP5: - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - -
SP11: - -
SP12:
SP13: - - - - - -
SP14: - - - - - -
SP15: - - -

ExUns: 11 ^ 12
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for CANT1 Gene

GeneLoc Exon Structure for
CANT1
ECgene alternative splicing isoforms for
CANT1

Expression for CANT1 Gene

mRNA expression in normal human tissues for CANT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CANT1 Gene

This gene is overexpressed in Whole Blood (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CANT1 Gene

SOURCE GeneReport for Unigene cluster for CANT1 Gene Hs.8859

mRNA Expression by UniProt/SwissProt for CANT1 Gene

Q8WVQ1-CANT1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with CANT1: view

Orthologs for CANT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CANT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CANT1 36
  • 98.92 (n)
  • 98.5 (a)
CANT1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CANT1 36
  • 86.62 (n)
  • 88.03 (a)
CANT1 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CANT1 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cant1 36
  • 85.12 (n)
  • 87.78 (a)
Cant1 16
Cant1 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CANT1 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CANT1 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cant1 36
  • 85.2 (n)
  • 87.03 (a)
chicken
(Gallus gallus)
Aves CANT1 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CANT1 37
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52693 36
tropical clawed frog
(Silurana tropicalis)
Amphibia cant1 36
  • 68.18 (n)
  • 76.01 (a)
MGC75940 36
zebrafish
(Danio rerio)
Actinopterygii cant1a 36
  • 68.29 (n)
  • 70.44 (a)
cant1a 37
  • 67 (a)
OneToMany
cant1b 37
  • 62 (a)
OneToMany
cant1b 37
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001217 36
  • 55.21 (n)
  • 49.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5276 36
  • 58.1 (n)
  • 55.24 (a)
CG5276 37
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea apy-1 36
  • 51.86 (n)
  • 51.19 (a)
apy-1 37
  • 45 (a)
OneToMany
Y39F10A.2 37
  • 22 (a)
OneToMany
ZK563.7 37
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6078 37
  • 47 (a)
OneToOne
Species with no ortholog for CANT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)

Evolution for CANT1 Gene

ENSEMBL:
Gene Tree for CANT1 (if available)
TreeFam:
Gene Tree for CANT1 (if available)

Paralogs for CANT1 Gene

Pseudogenes.org Pseudogenes for CANT1 Gene

genes like me logo Genes that share paralogs with CANT1: view

No data available for Paralogs for CANT1 Gene

Variants for CANT1 Gene

Sequence variations from dbSNP and Humsavar for CANT1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs4861 -- 78,992,110(-) ACGCT(A/G)AATGT utr-variant-3-prime, nc-transcript-variant
rs11891 -- 78,992,703(-) GTCGG(C/T)GTTCT utr-variant-3-prime, nc-transcript-variant
rs14791 -- 78,991,766(+) ATAGG(A/G)AAGGA utr-variant-3-prime, nc-transcript-variant
rs1127654 -- 78,991,813(-) TTTTT(G/T)CTTCC utr-variant-3-prime, nc-transcript-variant
rs3744168 -- 78,991,681(-) TTTGC(A/G)GAGGC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CANT1 Gene

Variant ID Type Subtype PubMed ID
dgv3283n71 CNV Loss 21882294
nsv908900 CNV Loss 21882294
dgv3284n71 CNV Loss 21882294
nsv523650 CNV Loss 19592680
nsv908903 CNV Loss 21882294
nsv470610 CNV Loss 18288195
nsv908905 CNV Gain 21882294
dgv3285n71 CNV Loss 21882294
esv22503 CNV Gain 19812545
esv2716322 CNV Deletion 23290073
esv2716323 CNV Deletion 23290073
esv2716324 CNV Deletion 23290073

Relevant External Links for CANT1 Gene

HapMap Linkage Disequilibrium report
CANT1
Human Gene Mutation Database (HGMD)
CANT1

Disorders for CANT1 Gene

(1) OMIM Diseases for CANT1 Gene (613165)

UniProtKB/Swiss-Prot

CANT1_HUMAN
  • Desbuquois dysplasia 1 (DBQD1) [MIM:251450]: A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a Swedish key appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. {ECO:0000269 PubMed:19853239, ECO:0000269 PubMed:20425819, ECO:0000269 PubMed:21037275, ECO:0000269 PubMed:21412251, ECO:0000269 PubMed:21654728, ECO:0000269 PubMed:22539336}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CANT1 Gene

(11) Novoseek inferred disease relationships for CANT1 Gene

Disease -log(P) Hits PubMed IDs
platelet aggregation, spontaneous 73.2 1
hemolysis 15.3 1
chagas disease 12.3 2
breast cancer 5.24 1
necrosis 3.63 1

Relevant External Links for CANT1

Genetic Association Database (GAD)
CANT1
Human Genome Epidemiology (HuGE) Navigator
CANT1
genes like me logo Genes that share disorders with CANT1: view

Publications for CANT1 Gene

  1. Site-directed mutagenesis of human soluble calcium-activated nucleotidase 1 (hSCAN-1): identification of residues essential for enzyme activity and the Ca(2+)-induced conformational change. (PMID: 15248776) Yang M. … Kirley T.L. (Biochemistry 2004) 3 4 23
  2. Identification of CANT1 mutations in Desbuquois dysplasia. (PMID: 19853239) Huber C. … Cormier-Daire V. (Am. J. Hum. Genet. 2009) 3 4 23
  3. Structure and protein design of a human platelet function inhibitor. (PMID: 15006348) Dai J. … Lu M. (Cell 2004) 3 4 23
  4. Cloning, expression, and functional characterization of a Ca2+- dependent endoplasmic reticulum nucleoside diphosphatase. (PMID: 12167635) Failer B.U. … Zimmermann H. (J. Biol. Chem. 2002) 2 3 4
  5. Cloning, expression, and characterization of a soluble calcium- activated nucleotidase, a human enzyme belonging to a new family of extracellular nucleotidases. (PMID: 12234496) Smith T. … Kirley T. (Arch. Biochem. Biophys. 2002) 3 4

Products for CANT1 Gene

Sources for CANT1 Gene

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