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    CANT1 calcium activated nucleotidase 1 [ Homo sapiens (human) ]

    Gene ID: 124583, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CANT1provided by HGNC
    Official Full Name
    calcium activated nucleotidase 1provided by HGNC
    Primary source
    HGNC:HGNC:19721
    See related
    Ensembl:ENSG00000171302 MIM:613165; AllianceGenome:HGNC:19721
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DBQD; EDM7; DBQD1; SCAN1; SHAPY; SCAN-1
    Summary
    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]
    Expression
    Broad expression in colon (RPKM 44.8), prostate (RPKM 33.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CANT1 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78991716..79009764, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79886485..79904693, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76987798..77005846, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TIMP metallopeptidase inhibitor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76898462-76899062 Neighboring gene CEP295 N-terminal like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76911943-76912638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76912639-76913334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76914785-76915760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12914 Neighboring gene Sharpr-MPRA regulatory region 14803 Neighboring gene Sharpr-MPRA regulatory region 6708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76972258-76972941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76976039-76977031 Neighboring gene galectin 3 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12915 Neighboring gene C1QTNF1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9078 Neighboring gene C1q and TNF related 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77040047-77040547 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:77042736-77043935 Neighboring gene Sharpr-MPRA regulatory region 5335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9079 Neighboring gene endo-beta-N-acetylglucosaminidase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Engineered human soluble calcium-activated nucleotidase inhibits coagulation in vitro and thrombosis in vivo. Yang M, et al. Thromb Res, 2008. PMID 18222531, Free PMC Article
    2. A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type. Singh A, et al. Eur J Med Genet, 2015 Feb. PMID 25486376
    3. MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. Balasubramanian K, et al. Am J Med Genet A, 2017 Sep. PMID 28742282, Free PMC Article
    4. Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. Laccone F, et al. Eur J Hum Genet, 2011 Nov. PMID 21654728, Free PMC Article
    5. The androgen-regulated Calcium-Activated Nucleotidase 1 (CANT1) is commonly overexpressed in prostate cancer and is tumor-biologically relevant in vitro. Gerhardt J, et al. Am J Pathol, 2011 Apr. PMID 21435463, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pan-cancer analysis predicts CANT1 as a potential prognostic, immunologic biomarker.
      Title: Pan-cancer analysis predicts CANT1 as a potential prognostic, immunologic biomarker.
    2. Upregulated CANT1 is correlated with poor prognosis in hepatocellular carcinoma.
      Title: Upregulated CANT1 is correlated with poor prognosis in hepatocellular carcinoma.
    3. Calcium-activated nucleotides 1 (CANT1)-driven nuclear factor-k-gene binding (NF-kB) signaling pathway facilitates the lung cancer progression.
      Title: Calcium-activated nucleotides 1 (CANT1)-driven nuclear factor-k-gene binding (NF-ĸB) signaling pathway facilitates the lung cancer progression.
    4. Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function.
      Title: Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function.
    5. Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
      Title: Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
    6. Knockdown of CANT1 expression can inhibit cell proliferation, migration, and invasion in human clear cell renal cell carcinoma cells, cause cell-cycle arrest in S phase and promote cell apoptosis.
      Title: Calcium-activated nucleotidase 1 silencing inhibits proliferation, migration, and invasion in human clear cell renal cell carcinoma.
    7. CANT1 long non-coding RNA triggers efficient therapeutic efficacy by correcting aberrant long non-coding cascade in malignant uveal melanoma.
      Title: CANT1 lncRNA Triggers Efficient Therapeutic Efficacy by Correcting Aberrant lncing Cascade in Malignant Uveal Melanoma.
    8. The Multiple Epiphyseal Dysplasia (MED)phenotype is thus allelic to the more severe Desbuquois dysplasia phenotype and the results identify CANT1 as a second locus for recessively inherited MED
      Title: MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
    9. a novel mutation of CANT1, c.467C>T (p.Ser156Phe) in 3 Indian patients with Desbuquois dysplasia, Kim type from 2 families
      Title: A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.
    10. Data studied proteoglycan synthesis in CANT1 mutated patient fibroblasts, and found significant reduced GAG synthesis in presence of beta-D-xyloside, suggesting that CANT1 plays a role in proteoglycan metabolism.
      Title: Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Desbuquois dysplasia 1
    MedGen: C4012146 OMIM: 251450 GeneReviews: Not available
    		Compare labs
    Epiphyseal dysplasia, multiple, 7
    MedGen: C4540251 OMIM: 617719 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of calcium activated nucleotidase 1 (CANT1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GDP phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GDP phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables UDP phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    involved_in proteoglycan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in specific granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in tertiary granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    soluble calcium-activated nucleotidase 1
    Names
    Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase
    apyrase 1 homolog (C. lectularius)
    apyrase homolog
    micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
    putative MAPK-activating protein PM09
    putative NF-kappa-B-activating protein 107
    soluble Ca-activated nucleotidase, isozyme 1
    soluble calcium-activated nucleotidase SCAN-1
    NP_001153244.1
    NP_001153245.1
    NP_620148.1
    XP_054170966.1
    XP_054170967.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016645.1 RefSeqGene

      Range
      5054..23102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001159772.2 → NP_001153244.1  soluble calcium-activated nucleotidase 1

      See identical proteins and their annotated locations for NP_001153244.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AF328554, BC017655
      Consensus CDS
      CCDS11760.1
      UniProtKB/Swiss-Prot
      B4DJ54, Q7Z2J7, Q8NG05, Q8NHP0, Q8WVQ1, Q9BSD5
      Related
      ENSP00000467437.1, ENST00000591773.5
      Conserved Domains (1) summary
      pfam06079
      Location:113 → 400
      Apyrase; Apyrase

    2. NM_001159773.2 → NP_001153245.1  soluble calcium-activated nucleotidase 1

      See identical proteins and their annotated locations for NP_001153245.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC017655, DC355691
      Consensus CDS
      CCDS11760.1
      UniProtKB/Swiss-Prot
      B4DJ54, Q7Z2J7, Q8NG05, Q8NHP0, Q8WVQ1, Q9BSD5
      Related
      ENSP00000376241.4, ENST00000392446.10
      Conserved Domains (1) summary
      pfam06079
      Location:113 → 400
      Apyrase; Apyrase

    3. NM_138793.4 → NP_620148.1  soluble calcium-activated nucleotidase 1

      See identical proteins and their annotated locations for NP_620148.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK074687, BC017655, DC355691
      Consensus CDS
      CCDS11760.1
      UniProtKB/Swiss-Prot
      B4DJ54, Q7Z2J7, Q8NG05, Q8NHP0, Q8WVQ1, Q9BSD5
      Related
      ENSP00000307674.2, ENST00000302345.6
      Conserved Domains (1) summary
      pfam06079
      Location:113 → 400
      Apyrase; Apyrase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      78991716..79009764 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      79886485..79904693 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314992.1 → XP_054170967.1  soluble calcium-activated nucleotidase 1 isoform X1

      UniProtKB/Swiss-Prot
      B4DJ54, Q7Z2J7, Q8NG05, Q8NHP0, Q8WVQ1, Q9BSD5

    2. XM_054314991.1 → XP_054170966.1  soluble calcium-activated nucleotidase 1 isoform X1

      UniProtKB/Swiss-Prot
      B4DJ54, Q7Z2J7, Q8NG05, Q8NHP0, Q8WVQ1, Q9BSD5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVQ1.1 GenPept UniProtKB/Swiss-Prot:Q8WVQ1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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