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Aliases for CANT1 Gene

Aliases for CANT1 Gene

  • Calcium Activated Nucleotidase 1 2 3 5
  • Soluble Ca-Activated Nucleotidase, Isozyme 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
  • SHAPY 3 4
  • 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 Calcium-Activated Nucleotidase 1 3
  • EC 3.6.1.6 4
  • DBQD1 3
  • SCAN1 3
  • DBQD 3

External Ids for CANT1 Gene

Previous GeneCards Identifiers for CANT1 Gene

  • GC17M074500
  • GC17M076987
  • GC17M072408

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 1 and Desbuquois Dysplasia. Among its related pathways are Innate Immune System and Pyrimidine metabolism (KEGG). GO annotations related to this gene include calcium ion binding and pyrophosphatase 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 (PubMed:12234496, PubMed:15248776, PubMed:15006348, PubMed:16835225). Involved in proteoglycan synthesis (PubMed:22539336).

Gene Wiki entry for CANT1 Gene

Additional gene information for CANT1 Gene

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

Genomics for CANT1 Gene

Regulatory Elements for CANT1 Gene

Enhancers for CANT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H078985 1.5 Ensembl ENCODE dbSUPER 27.7 +22.9 22908 2 PKNOX1 ARID4B SIN3A ZNF302 GATA2 ELK1 FOS CAVIN1 ZNF592 KAT8 CANT1 USP36 C1QTNF1 ENGASE PIR37172 LGALS3BP
GH17H079984 2 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -980.2 -980190 11 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 EIF4A3 CCDC40 ENSG00000262768 ENGASE CBX2 TBC1D16 LOC100294362 ENDOV SGSH CANT1
GH17H079036 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11 -28.0 -28041 3 TBP JUN MAX SIN3A CEBPG RELA ZNF121 POLR2A RCOR1 FOS C1QTNF1 ENGASE CANT1 BIRC5 CYTH1 USP36 C1QTNF1-AS1
GH17H079005 1.3 Ensembl ENCODE dbSUPER 12.5 +4.0 3975 1 KLF1 SIN3A KLF17 ZIC2 GATA3 GLIS2 POLR2A ZNF366 ZBTB48 PATZ1 CANT1 ENGASE GC17P079001
GH17H079022 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.1 -15.7 -15652 6 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 FOS PAF1 SP3 C1QTNF1 ENGASE CANT1 C1QTNF1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CANT1 on UCSC Golden Path with GeneCards custom track

Promoters for CANT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000099019 267 1201 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF766 GLIS2 ELK1 ZNF207 ZNF143

Genomic Location for CANT1 Gene

Chromosome:
17
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

Genes around CANT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CANT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CANT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 (PubMed:12234496, PubMed:15006348). Homodimer; dimerization is Ca(2+)-dependent (PubMed:16835225). Homodimer; disulfide-linked (membrane form) (PubMed:16835225).
    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

Post-translational modifications for CANT1 Gene

Antibody Products

  • R&D Systems Antibodies for CANT1 (Calcium Activated Nucleotidase 1/CANT1)
  • Cloud-Clone Corp. Antibodies for CANT1

Protein Products

No data available for DME Specific Peptides for CANT1 Gene

Domains & Families for CANT1 Gene

Gene Families for CANT1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CANT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CANT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WVQ1

UniProtKB/Swiss-Prot:

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

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 (PubMed:12234496, PubMed:15248776, PubMed:15006348, PubMed:16835225). Involved in proteoglycan synthesis (PubMed:22539336).

Enzyme Numbers (IUBMB) for CANT1 Gene

Phenotypes From GWAS Catalog for CANT1 Gene

Gene Ontology (GO) - Molecular Function for CANT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004382 guanosine-diphosphatase activity IDA 16835225
GO:0004871 signal transducer activity IMP 12761501
GO:0005509 calcium ion binding IDA 16835225
GO:0016787 hydrolase activity IEA --
GO:0017110 nucleoside-diphosphatase activity IEA --
genes like me logo Genes that share ontologies with CANT1: view
genes like me logo Genes that share phenotypes with CANT1: view

Human Phenotype Ontology for CANT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CANT1 Gene

MGI Knock Outs for CANT1:

Animal Model Products

CRISPR Products

miRNA for CANT1 Gene

Inhibitory RNA Products

No data available for Transcription Factor Targets 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. Cell membrane. Note=Processed form: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CANT1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
cytoskeleton 3
golgi apparatus 3
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CANT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with CANT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CANT1 Gene

Pathways & Interactions for CANT1 Gene

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

Pathways by source for CANT1 Gene

1 BioSystems pathway for CANT1 Gene
3 Reactome pathways 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 IEA --
GO:0030166 proteoglycan biosynthetic process IMP 22539336
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IMP 12761501
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with CANT1: view

No data available for SIGNOR curated interactions for CANT1 Gene

Drugs & Compounds for CANT1 Gene

(63) Drugs for CANT1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tromethamine Approved Pharma Target 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Phosphomethylphosphonic Acid Guanosyl Ester Experimental Pharma Target 0

(40) Additional Compounds for CANT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
dTDP
  • Deoxy-TDP
  • Deoxythymidine 5'-diphosphate
  • dTDP
  • TDP
  • Thymidine 5'-diphosphate
491-97-4
IDP
  • 5'-IDP
  • IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
86-04-4
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • 5'-ITP
  • 5-ITP
  • Inosine 5
  • Inosine 5'-(tetrahydrogen triphosphate)
132-06-9
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CANT1 Gene

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

This gene is overexpressed in Whole Blood (x4.7).

Protein differential expression in normal tissues from HIPED for CANT1 Gene

This gene is overexpressed in Lung (27.8) and Bone (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CANT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CANT1 Gene:

CANT1

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.

Evidence on tissue expression from TISSUES for CANT1 Gene

  • Nervous system(4.8)
  • Pancreas(4.4)
  • Lung(4.3)
  • Skin(4.2)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CANT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CANT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for CANT1 Gene

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 33 34
  • 98.92 (n)
dog
(Canis familiaris)
Mammalia CANT1 34
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CANT1 33 34
  • 86.62 (n)
rat
(Rattus norvegicus)
Mammalia Cant1 33
  • 85.2 (n)
mouse
(Mus musculus)
Mammalia Cant1 33 16 34
  • 85.12 (n)
oppossum
(Monodelphis domestica)
Mammalia CANT1 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CANT1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves CANT1 34
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CANT1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cant1 33
  • 68.18 (n)
MGC75940 33
African clawed frog
(Xenopus laevis)
Amphibia MGC52693 33
zebrafish
(Danio rerio)
Actinopterygii cant1a 33 34
  • 68.29 (n)
cant1b 34 34
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5276 33 34
  • 58.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001217 33
  • 55.21 (n)
worm
(Caenorhabditis elegans)
Secernentea apy-1 33 34
  • 51.86 (n)
ZK563.7 34
  • 35 (a)
OneToMany
Y39F10A.2 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6078 34
  • 47 (a)
OneToOne
Species where no ortholog for CANT1 was found in the sources mined by GeneCards:
  • 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
rs150181226 Pathogenic, Desbuquois dysplasia 1 (DBQD1) [MIM:251450] 78,995,182(+) CGTAC(A/G)GACGC nc-transcript-variant, reference, missense
rs267606699 Pathogenic, Desbuquois dysplasia 1 (DBQD1) [MIM:251450] 78,993,857(-) GCCGC(A/G)CCGCG nc-transcript-variant, reference, missense
rs267606700 Pathogenic, Desbuquois dysplasia 1 (DBQD1) [MIM:251450] 78,993,860(-) CCTGC(C/T)GCGCC nc-transcript-variant, reference, missense
rs267606701 Pathogenic, Desbuquois dysplasia 1 (DBQD1) [MIM:251450] 78,993,858(-) TGCCG(C/T)GCCGC nc-transcript-variant, reference, missense
rs377546036 Pathogenic, Desbuquois dysplasia 1 (DBQD1) [MIM:251450] 78,995,177(+) GCCCA(C/T)GTACA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv22503 CNV gain 19812545
esv2716322 CNV deletion 23290073
esv2716323 CNV deletion 23290073
esv2716324 CNV deletion 23290073
nsv1057193 CNV gain 25217958
nsv1071409 CNV deletion 25765185
nsv1112718 CNV deletion 24896259
nsv1126471 CNV deletion 24896259
nsv1134681 CNV deletion 24896259
nsv470610 CNV loss 18288195
nsv523650 CNV loss 19592680
nsv952378 CNV deletion 24416366

Variation tolerance for CANT1 Gene

Residual Variation Intolerance Score: 69.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.19; 39.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CANT1 Gene

Human Gene Mutation Database (HGMD)
CANT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CANT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CANT1 Gene

Disorders for CANT1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CANT1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
desbuquois dysplasia 1
  • desbuquois syndrome
desbuquois dysplasia
  • desbuquois syndrome
larsen syndrome
  • dominant larsen syndrome
spondyloepiphyseal dysplasia with congenital joint dislocations
  • chondrodysplasia with multiple dislocations
- elite association - COSMIC cancer census association via MalaCards
Search CANT1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for CANT1

Genetic Association Database (GAD)
CANT1
Human Genome Epidemiology (HuGE) Navigator
CANT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CANT1
genes like me logo Genes that share disorders with CANT1: view

No data available for Genatlas for CANT1 Gene

Publications for CANT1 Gene

  1. Identification of CANT1 mutations in Desbuquois dysplasia. (PMID: 19853239) Huber C … Cormier-Daire V (American journal of human genetics 2009) 3 4 22 60
  2. 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 TL (Biochemistry 2004) 3 4 22 60
  3. Structure and protein design of a human platelet function inhibitor. (PMID: 15006348) Dai J … Lu M (Cell 2004) 3 4 22 60
  4. Cloning, expression, and functional characterization of a Ca(2+)-dependent endoplasmic reticulum nucleoside diphosphatase. (PMID: 12167635) Failer BU … Zimmermann H (The Journal of biological chemistry 2002) 2 3 4 60
  5. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. (PMID: 22539336) Nizon M … Cormier-Daire V (Human mutation 2012) 3 4 60

Products for CANT1 Gene

Sources for CANT1 Gene

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