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

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pan-cancer analysis predicts CANT1 as a potential prognostic, immunologic biomarker.
Title: Pan-cancer analysis predicts CANT1 as a potential prognostic, immunologic biomarker.
Upregulated CANT1 is correlated with poor prognosis in hepatocellular carcinoma.
Title: Upregulated CANT1 is correlated with poor prognosis in hepatocellular carcinoma.
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.
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.
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.
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.
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.
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.
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.
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.

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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)

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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 more info	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

EC 3.6.1.6

NP_001153245.1

EC 3.6.1.6

NP_620148.1

EC 3.6.1.6

XP_054170966.1

EC 3.6.1.6

XP_054170967.1

EC 3.6.1.6

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

NG_016645.1 RefSeqGene

Range

5054..23102

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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