Human Gene CANT1 (ENST00000392446.10) Description and Page Index
  Description: Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA. (from RefSeq NM_138793)
RefSeq Summary (NM_001159773): 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].
Gencode Transcript: ENST00000392446.10
Gencode Gene: ENSG00000171302.17
Transcript (Including UTRs)
   Position: hg38 chr17:78,991,716-79,009,764 Size: 18,049 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr17:78,993,550-78,997,622 Size: 4,073 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:78,991,716-79,009,764)mRNA (may differ from genome)Protein (401 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGImyGene2neXtProtOMIM
PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CANT1_HUMAN
DESCRIPTION: RecName: Full=Soluble calcium-activated nucleotidase 1; Short=SCAN-1; EC=3.6.1.6; AltName: Full=Apyrase homolog; AltName: Full=Putative MAPK-activating protein PM09; AltName: Full=Putative NF-kappa-B-activating protein 107;
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 nucleotide + phosphate.
COFACTOR: Calcium.
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 6.8;
SUBUNIT: Monomer.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Processed form: Secreted.
TISSUE SPECIFICITY: Widely expressed.
PTM: N-glycosylated.
DISEASE: Defects in CANT1 are the cause of 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.
MISCELLANEOUS: Not inhibited by azide.
SIMILARITY: Belongs to the apyrase family.
SEQUENCE CAUTION: Sequence=AAM94564.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: CANT1
Diseases sorted by gene-association score: desbuquois dysplasia 1* (1230), desbuquois dysplasia* (511), larsen syndrome (7), spondyloepiphyseal dysplasia with congenital joint dislocations (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.38 RPKM in Colon - Transverse
Total median expression: 514.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -74.70247-0.302 Picture PostScript Text
3' UTR -654.201834-0.357 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009283 - Apyrase

Pfam Domains:
PF06079 - Apyrase

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1S18
- X-ray MuPIT

1S1D
- X-ray MuPIT

2H2N
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
2H2U - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8WVQ1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004382 guanosine-diphosphatase activity
GO:0005509 calcium ion binding
GO:0016787 hydrolase activity
GO:0017110 nucleoside-diphosphatase activity
GO:0042803 protein homodimerization activity
GO:0043262 adenosine-diphosphatase activity
GO:0045134 uridine-diphosphatase activity
GO:0046872 metal ion binding

Biological Process:
GO:0030166 proteoglycan biosynthetic process
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043312 neutrophil degranulation

Cellular Component:
GO:0005576 extracellular region
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032580 Golgi cisterna membrane
GO:0035580 specific granule lumen
GO:0070062 extracellular exosome
GO:1904724 tertiary granule lumen
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  LF209436 - JP 2014500723-A/16939: Polycomb-Associated Non-Coding RNAs.
MA445013 - JP 2018138019-A/16939: Polycomb-Associated Non-Coding RNAs.
AK026161 - Homo sapiens cDNA: FLJ22508 fis, clone HRC11772.
BC005104 - Homo sapiens calcium activated nucleotidase 1, mRNA (cDNA clone IMAGE:3633379), partial cds.
BC065038 - Homo sapiens calcium activated nucleotidase 1, mRNA (cDNA clone MGC:74679 IMAGE:6148580), complete cds.
BC017655 - Homo sapiens calcium activated nucleotidase 1, mRNA (cDNA clone MGC:10104 IMAGE:3898917), complete cds.
AK074687 - Homo sapiens cDNA FLJ90206 fis, clone MAMMA1001978, highly similar to Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase.
AB097006 - Homo sapiens mRNA for putative NFkB activating protein, complete cds, clone: 107.
AB097033 - Homo sapiens mRNA for putative MAPK activating protein, complete cds, clone: PM09.
JD184254 - Sequence 165278 from Patent EP1572962.
JD187297 - Sequence 168321 from Patent EP1572962.
AJ312208 - Homo sapiens partial mRNA for putative apyrase (SHAPY gene).
JD266684 - Sequence 247708 from Patent EP1572962.
JD248538 - Sequence 229562 from Patent EP1572962.
JD268127 - Sequence 249151 from Patent EP1572962.
JD088987 - Sequence 70011 from Patent EP1572962.
JD403021 - Sequence 384045 from Patent EP1572962.
DQ576061 - Homo sapiens piRNA piR-44173, complete sequence.
DQ593307 - Homo sapiens piRNA piR-33419, complete sequence.
JD187378 - Sequence 168402 from Patent EP1572962.
JD389704 - Sequence 370728 from Patent EP1572962.
JD121370 - Sequence 102394 from Patent EP1572962.
JD375772 - Sequence 356796 from Patent EP1572962.
JD085279 - Sequence 66303 from Patent EP1572962.
JD321230 - Sequence 302254 from Patent EP1572962.
JD041965 - Sequence 22989 from Patent EP1572962.
JD477787 - Sequence 458811 from Patent EP1572962.
JD355602 - Sequence 336626 from Patent EP1572962.
JD554384 - Sequence 535408 from Patent EP1572962.
JD297510 - Sequence 278534 from Patent EP1572962.
DQ597698 - Homo sapiens piRNA piR-35764, complete sequence.
JD313906 - Sequence 294930 from Patent EP1572962.
DQ572898 - Homo sapiens piRNA piR-41010, complete sequence.
JD527964 - Sequence 508988 from Patent EP1572962.
JD355528 - Sequence 336552 from Patent EP1572962.
JD115060 - Sequence 96084 from Patent EP1572962.
JD469871 - Sequence 450895 from Patent EP1572962.
JD028251 - Sequence 9275 from Patent EP1572962.
JD022594 - Sequence 3618 from Patent EP1572962.
JD454584 - Sequence 435608 from Patent EP1572962.
JD054723 - Sequence 35747 from Patent EP1572962.
JD365699 - Sequence 346723 from Patent EP1572962.
JD454947 - Sequence 435971 from Patent EP1572962.
JD333862 - Sequence 314886 from Patent EP1572962.
JD446687 - Sequence 427711 from Patent EP1572962.
JD173948 - Sequence 154972 from Patent EP1572962.
DQ585977 - Homo sapiens piRNA piR-53089, complete sequence.
DQ578890 - Homo sapiens piRNA piR-47002, complete sequence.
JD179803 - Sequence 160827 from Patent EP1572962.
JD489917 - Sequence 470941 from Patent EP1572962.
JD221083 - Sequence 202107 from Patent EP1572962.
AF328554 - Homo sapiens soluble calcium-activated nucleotidase 1 (CANT1) mRNA, complete cds.
AK295930 - Homo sapiens cDNA FLJ53010 complete cds, highly similar to Soluble calcium-activated nucleotidase 1 (EC 3.6.1.6).
KJ895392 - Synthetic construct Homo sapiens clone ccsbBroadEn_04786 CANT1 gene, encodes complete protein.
LF328529 - JP 2014500723-A/136032: Polycomb-Associated Non-Coding RNAs.
MA564106 - JP 2018138019-A/136032: Polycomb-Associated Non-Coding RNAs.
BC118563 - Homo sapiens cDNA clone IMAGE:40030819.
DQ582927 - Homo sapiens piRNA piR-50039, complete sequence.
LF328530 - JP 2014500723-A/136033: Polycomb-Associated Non-Coding RNAs.
MA564107 - JP 2018138019-A/136033: Polycomb-Associated Non-Coding RNAs.
DQ590948 - Homo sapiens piRNA piR-58060, complete sequence.
DQ586632 - Homo sapiens piRNA piR-53744, complete sequence.
JD467309 - Sequence 448333 from Patent EP1572962.
DQ586166 - Homo sapiens piRNA piR-53278, complete sequence.
DQ595190 - Homo sapiens piRNA piR-61302, complete sequence.
JD205292 - Sequence 186316 from Patent EP1572962.
JD318416 - Sequence 299440 from Patent EP1572962.
JD070902 - Sequence 51926 from Patent EP1572962.
JD215013 - Sequence 196037 from Patent EP1572962.
JD064792 - Sequence 45816 from Patent EP1572962.
JD472770 - Sequence 453794 from Patent EP1572962.
JD142431 - Sequence 123455 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa00240 - Pyrimidine metabolism

Reactome (by CSHL, EBI, and GO)

Protein Q8WVQ1 (Reactome details) participates in the following event(s):

R-HSA-6798749 Exocytosis of specific granule lumen proteins
R-HSA-6798745 Exocytosis of tertiary granule lumen proteins
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: CANT1_HUMAN, NM_138793, Q7Z2J7, Q8NG05, Q8NHP0, Q8WVQ1, Q9BSD5, SHAPY, uc002jwk.1, uc002jwk.2, uc002jwk.3, uc002jwk.4, uc002jwk.5
UCSC ID: uc002jwk.5
RefSeq Accession: NM_001159773
Protein: Q8WVQ1 (aka CANT1_HUMAN)
CCDS: CCDS11760.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.