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CANT1 Gene

protein-coding   GIFtS: 63
GCID: GC17M076987

Calcium Activated Nucleotidase 1

  See CANT1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Calcium Activated Nucleotidase 11 2     Isozyme 11
Apyrase Homolog2 3     Soluble Ca-Activated Nucleotidase1
Putative MAPK-Activating Protein PM092 3     Ca2+-Dependent Endoplasmic Reticulum Nucleoside Diphosphatase2
Putative NF-Kappa-B-Activating Protein 1072 3     Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And
Advanced Carpotarsal Ossification2
SCAN-12 3     Soluble Ca-Activated Nucleotidase, Isozyme 12
SHAPY2 3     Soluble Calcium-Activated Nucleotidase 12
DBQD2 5     Soluble Calcium-Activated Nucleotidase SCAN-12
SCAN12 5     EC 3.6.1.63

External Ids:    HGNC: 197211   Entrez Gene: 1245832   Ensembl: ENSG000001713027   OMIM: 6131655   UniProtKB: Q8WVQ13   
ORGUL members:         

Export aliases for CANT1 gene to outside databases

Previous GC identifers: GC17M074500 GC17M072408


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 syndrome, and dwarfism. GO annotations related to this gene include uridine-diphosphatase activity and calcium ion binding.

UniProtKB/Swiss-Prot: CANT1_HUMAN, Q8WVQ1
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

Gene Wiki entry for CANT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CANT1 gene promoter:
         AhR   STAT1   Sp1   POU3F2   PPAR-alpha   FAC1   POU2F1   POU2F1a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CANT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CANT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

CANT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CANT1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M076987:  view genomic region     (about GC identifiers)

Start:
76,987,798 bp from pter      End:
77,005,949 bp from pter
Size:
18,152 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CANT1_HUMAN, Q8WVQ1 (See protein sequence)
Recommended Name: Soluble calcium-activated nucleotidase 1  
Size: 401 amino acids; 44840 Da
Cofactor: Calcium
Subunit: Monomer
Miscellaneous: Not inhibited by azide
Sequence caution: Sequence=AAM94564.1; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for CANT1:
1S18 (3D)        1S1D (3D)        2H2N (3D)        2H2U (3D)    
Secondary accessions: Q7Z2J7 Q8NG05 Q8NHP0 Q9BSD5
Alternative splicing: 2 isoforms:  Q8WVQ1-1   Q8WVQ1-2   

Explore the universe of human proteins at neXtProt for CANT1: NX_Q8WVQ1

Explore proteomics data for CANT1 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn88
  • Modification sites at PhosphoSitePlus

  • See CANT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001153244.1  NP_001153245.1  NP_620148.1  

    ENSEMBL proteins: 
     ENSP00000376241   ENSP00000307674   ENSP00000466743   ENSP00000467437   ENSP00000465816  
     ENSP00000465769   ENSP00000466637   ENSP00000467970   ENSP00000467886   ENSP00000464841  
     ENSP00000467777  

    CANT1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CANT1
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    Novus Biologicals CANT1 Lysates
    Sino Biological Recombinant Protein for CANT1
    Sino Biological Cell Lysate for CANT1
    ProSpec Recombinant Protein for CANT1
    Cloud-Clone Corp. Proteins for CANT1

     
    Search eBioscience for Proteins for CANT1 

    CANT1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for CANT1

    CANT1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CANT1
    Cloud-Clone Corp. CLIAs for CANT1
    Search eBioscience for ELISAs for CANT1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009283 Apyrase

    Graphical View of Domain Structure for InterPro Entry Q8WVQ1

    ProtoNet protein and cluster: Q8WVQ1

    UniProtKB/Swiss-Prot: CANT1_HUMAN, Q8WVQ1
    Similarity: Belongs to the apyrase family


    Find genes that share domains with CANT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CANT1_HUMAN, Q8WVQ1
    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
    Catalytic activity: A nucleoside diphosphate + H(2)O = a nucleoside phosphate + phosphate
    Biophysicochemical properties: pH dependence: Optimum pH is 6.8;

         Enzyme Number (IUBMB): EC 3.6.1.61

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IMP12761501
    GO:0005509calcium ion binding IEA--
    GO:0016462pyrophosphatase activity ----
    GO:0045134uridine-diphosphatase activity IEA--
         
    Find genes that share ontologies with CANT1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CANT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CANT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CANT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CANT1

    miRNA
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    miRTarBase miRNAs that target CANT1:
    hsa-mir-18a-3p (MIRT040798), hsa-mir-98-5p (MIRT027486), hsa-mir-320a (MIRT044689), hsa-mir-7-5p (MIRT025689)

    Block miRNA regulation of human, mouse, rat CANT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CANT1 (see all 28):
    hsa-miR-4265 hsa-let-7d hsa-miR-202 hsa-miR-106a hsa-let-7c hsa-miR-519a hsa-let-7g hsa-miR-3161
    SwitchGear 3'UTR luciferase reporter plasmidCANT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CANT1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): CANT1 (NM_138793)
    Sino Biological Human cDNA Clone for CANT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CANT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CANT1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CANT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CANT1_HUMAN, Q8WVQ1: 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: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    cytoskeleton1
    cytosol1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    Find genes that share ontologies with CANT1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CANT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (KEGG)
    Purine metabolism0.38
    UTP and CTP dephosphorylation II0.00
    Pyrimidine metabolism0.38
    2TNF Signaling
    NF-kB (NFkB) Pathway0.46


    Find genes that share SuperPaths with CANT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CANT1
        UTP and CTP dephosphorylation II

    1 Sino Biological Pathway for CANT1
        NF-kB (NFkB) Pathway


    2 Kegg Pathways  (Kegg details for CANT1):
        Purine metabolism
    Pyrimidine metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CANT1
    Interactions:

        Search GeneGlobe Interaction Network for CANT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CANT1 (Q8WVQ13 ENSP000003076744) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SGTAO437653, ENSP000002215664I2D: score=5 STRING: ENSP00000221566
    ASNA1O436813I2D: score=5 
    EIF3MQ7L2H73I2D: score=5 
    ADSSENSP000003554934STRING: ENSP00000355493
    ATICENSP000002369594STRING: ENSP00000236959
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction IMP12761501
    GO:0030166proteoglycan biosynthetic process IMP--
    GO:0043123positive regulation of I-kappaB kinase/NF-kappaB signaling IMP12761501

    Find genes that share ontologies with CANT1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CANT1

    Selected HMDB Compounds for CANT1 (see all 22)    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Thymidylic acid2'-Deoxythymidine 5'-monophosphate (see all 28)365-07-1--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CDPCDP (see all 3)63-38-7--
    CalciumCa (see all 2)7440-70-2--
    Cytidine monophosphate5'-CMP (see all 14)63-37-6--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--

    2 DrugBank Compounds for CANT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Phosphomethylphosphonic Acid Guanosyl Ester-- --target--17139284 17016423
    Tris(Hydroxymethyl)Aminomethane-- --target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for CANT1 gene (see all 81)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adp 85.7 113 15731382 (4), 16702045 (3), 9157599 (2), 10590060 (2) (see all 77)
    suramin 81.3 36 17825906 (4), 16924659 (3), 10362642 (2), 12244041 (2) (see all 27)
    atp 80.3 163 12457710 (3), 15619668 (2), 18243311 (2), 12464620 (2) (see all 99)
    mrs2179 74.8 1 14691052 (1)
    grgds 72.4 1 8645315 (1)
    adpbetas 68.7 2 12686569 (1), 11019976 (1)
    thromboxane a2 67.3 11 2317202 (1), 8443865 (1), 15823546 (1), 8972712 (1) (see all 8)
    ppads 67.1 4 19225107 (1), 12244041 (1), 12526886 (1)
    diphosphates 65.5 2 9804829 (1), 12457710 (1)
    fibrinogen 65 4 10515289 (1), 20351782 (1), 8236145 (1), 11721406 (1)



    Find genes that share compounds with CANT1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CANT1 gene (3 alternative transcripts): 
    NM_001159772.1  NM_001159773.1  NM_138793.3  

    Unigene Cluster for CANT1:

    Calcium activated nucleotidase 1
    Hs.8859  [show with all ESTs]
    Unigene Representative Sequence: NM_138793
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392446(uc002jwn.3 uc002jwk.3 uc002jwl.2) ENST00000302345(uc002jwj.3)
    ENST00000592228 ENST00000591773 ENST00000588096 ENST00000588611 ENST00000588075
    ENST00000590370 ENST00000586916 ENST00000592033 ENST00000591811 ENST00000591625
    ENST00000592887 ENST00000587242 ENST00000591732
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CANT1 (see all 28):
    hsa-miR-4265 hsa-let-7d hsa-miR-202 hsa-miR-106a hsa-let-7c hsa-miR-519a hsa-let-7g hsa-miR-3161
    SwitchGear 3'UTR luciferase reporter plasmidCANT1 3' UTR sequence
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CANT1 (NM_138793)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CANT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CANT1
    Primer
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    OriGene qPCR primer pairs and template standards for CANT1
    OriGene qSTAR qPCR primer pairs in human, mouse for CANT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CANT1
      QuantiTect SYBR Green Assays in human, mouse, rat CANT1
      QuantiFast Probe-based Assays in human, mouse, rat CANT1

    Additional mRNA sequence: 

    AB097006.1 AB097033.1 AF328554.2 AJ312208.1 AK026161.1 AK074687.1 AK295930.1 BC005104.1 
    BC017655.1 BC065038.1 BC118563.1 

    18 DOTS entries:

    DT.448256  DT.100832891  DT.102832522  DT.100037573  DT.91680526  DT.40209357  DT.100832896  DT.120936232 
    DT.95150245  DT.100037585  DT.100832894  DT.120936246  DT.120936235  DT.120936251  DT.95088346  DT.95150247 
    DT.120936245  DT.91703418 

    Selected AceView cDNA sequences (see all 344):

    AA809882 AA311735 BI829424 CA450209 BP364792 AA348004 CD359263 BM564545 
    CD368272 BM973602 BU855024 CB139129 BM727304 AB097033 BQ961974 AI277114 
    CB141202 AA568586 AI272853 CF125047 BC065038 AW169734 BM783293 BU542832 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CANT1 (see all 15)    About this scheme

    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:                                            -     -     -     -     -                                   -                                                   

    ExUns: 11 ^ 12
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for CANT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CANT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGCACCTG
    CANT1 Expression
    About this image


    CANT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    CANT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CANT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.8859

    UniProtKB/Swiss-Prot: CANT1_HUMAN, Q8WVQ1
    Tissue specificity: Widely expressed

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CANT1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cant11 , 5 calcium activated nucleotidase 11, 5 85.12(n)1
    87.78(a)1
      11 (83.15 cM)5
    760251  NM_001025617.21  NP_001020788.11 
     1184062895 
    chicken
    (Gallus gallus)
    Aves CANT16
    Gallus gallus calcium activated nucleotidase 1 (CA...
    70(a)
    1 ↔ 1
    18(10034762-10038434)
    lizard
    (Anolis carolinensis)
    Reptilia CANT16
    calcium activated nucleotidase 1
    74(a)
    1 ↔ 1
    2(101703716-101716238)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC526932 similar to Ca2+-dependent endoplasmic reticulum nucleoside more 75.43(n)    BC041215.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570532022   -- 72.55(n)    57053202 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG52761 CG5276 58.1(n)
    55.24(a)
      41373  NM_141817.3  NP_650074.1 
    worm
    (Caenorhabditis elegans)
    Secernentea apy-11 apy-1 51.86(n)
    51.19(a)
      181019  NM_076882.6  NP_509283.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CANT1 gene

    Find genes that share paralogs with CANT1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CANT1
    PGOHUM00000243510


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CANT1 (see all 561)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0686564
    Desbuquois dysplasia (DBQD)4--see VAR_0686562 W C mis40--------
    VAR_0686604
    Desbuquois dysplasia (DBQD)4--see VAR_0686602 S R mis40--------
    VAR_0629814
    Desbuquois dysplasia (DBQD)4--see VAR_0629812 R C mis40--------
    VAR_0686594
    Desbuquois dysplasia (DBQD)4--see VAR_0686592 V M mis40--------
    VAR_0629824
    Desbuquois dysplasia (DBQD)4--see VAR_0629822 R H mis40--------
    VAR_0686634
    Desbuquois dysplasia (DBQD)4--see VAR_0686632 I N mis40--------
    VAR_0686554
    Desbuquois dysplasia (DBQD)4--see VAR_0686552 D E mis40--------
    VAR_0686624
    Desbuquois dysplasia (DBQD)4--see VAR_0686622 A D mis40--------
    VAR_0629804
    Desbuquois dysplasia (DBQD)4--see VAR_0629802 P L mis40--------
    VAR_0686574
    Desbuquois dysplasia (DBQD)4--see VAR_0686572 M T mis40--------

    HapMap Linkage Disequilibrium report for CANT1 (76987798 - 77005949 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CANT1 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2716322CNV Deletion23290073
    esv2716323CNV Deletion23290073
    esv2716324CNV Deletion23290073
    nsv908903CNV Loss21882294
    dgv3284n71CNV Loss21882294
    nsv908900CNV Loss21882294
    dgv3283n71CNV Loss21882294
    dgv3285n71CNV Loss21882294
    nsv523650CNV Loss19592680
    nsv470610CNV Loss18288195

    Human Gene Mutation Database (HGMD): CANT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CANT1
    DNA2.0 Custom Variant and Variant Library Synthesis for CANT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613165   
    OMIM disorders: 251450  
    UniProtKB/Swiss-Prot: CANT1_HUMAN, Q8WVQ1
  • Desbuquois dysplasia (DBQD) [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 (type 1) or
    absence (type 2) of characteristic hand anomalies: an extra ossification center distal to the second metacarpal,
    delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for CANT1:    
    About MalaCards
    desbuquois syndrome    dwarfism    chagas disease

    1 disease from the University of Copenhagen DISEASES database for CANT1:
    Diastrophic dysplasia

    Find genes that share disorders with CANT1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CANT1 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    platelet aggregation, spontaneous 73.2 1 17139373 (1)
    hemolysis 15.3 3 16543719 (1)
    chagas disease 12.3 2 18598576 (1), 15475299 (1)
    breast cancer 5.24 1 15949710 (1)
    necrosis 3.63 1 15129165 (1)
    thrombosis 1.43 2 20473398 (1), 16702045 (1)
    stroke 0 1 11770867 (1)
    bleeding 0 1 11770867 (1)
    shock 0 1 9890913 (1)
    cerebral infarction 0 1 11770867 (1)

    Genetic Association Database (GAD): CANT1
    Human Genome Epidemiology (HuGE) Navigator: CANT1 (1 document)

    Export disorders for CANT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CANT1 gene, integrated from 10 sources (see all 303):
    (articles sorted by number of sources associating them with CANT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression, and functional characterization of a Ca2+- dependent endoplasmic reticulum nucleoside diphosphatase. (PubMed id 12167635)1, 2, 3 Failer B.U.... Zimmermann H. (J. Biol. Chem. 2002)
    2. Identification of CANT1 mutations in Desbuquois dysplasia. (PubMed id 19853239)1, 2, 9 Huber C.... Cormier-Daire V. (Am. J. Hum. Genet. 2009)
    3. 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. (PubMed id 15248776)1, 2, 9 Yang M. and Kirley T.L. (Biochemistry 2004)
    4. Structure and protein design of a human platelet function inhibitor. (PubMed id 15006348)1, 2, 9 Dai J.... Lu M. (Cell 2004)
    5. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. (PubMed id 22539336)1, 2 Nizon M.... Cormier-Daire V. (Hum. Mutat. 2012)
    6. A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. (PubMed id 21412251)1, 2 Dai J.... Ikegawa S. (J. Hum. Genet. 2011)
    7. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. (PubMed id 21037275)1, 2 Furuichi T.... Ikegawa S. (J. Med. Genet. 2011)
    8. Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. (PubMed id 21654728)1, 2 Laccone F.... Rehder H. (Eur. J. Hum. Genet. 2011)
    9. Integrative predictive model of coronary artery calcification in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (Circulation 2009)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 124583 HGNC: 19721 AceView: ENTPD8 Ensembl:ENSG00000171302 euGenes: HUgn124583
    ECgene: CANT1 Kegg: 124583 H-InvDB: CANT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CANT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CANT1 gene:
    Search GeneIP for patents involving CANT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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