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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
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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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