• Gene id: 124583

Gene Summary

• Gene Symbol: CANT1   Gene   UCSC   Ensembl
• Aliases: DBQD, DBQD1, EDM7, SCAN-1, SCAN1, SHAPY
• Gene name: calcium activated nucleotidase 1
• Alternate names: soluble calcium-activated nucleotidase 1, Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase, apyrase homolog, micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification, putative MAPK-activating protein ,
• Gene location: 17q25.3 (79009792: 78991715)     Exons: 8     NC_000017.11
• Gene summary(Entrez): 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 transcr
• OMIM: 613165

Protein Summary

• Protein general information: Q8WVQ1  
  • Name: Soluble calcium activated nucleotidase 1 (SCAN 1) (EC 3.6.1.6) (Apyrase homolog) (Putative MAPK activating protein PM09) (Putative NF kappa B activating protein 107)
  • Length: 401  
  • Mass: 44840
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MPVQLSEHPEWNESMHSLRISVGGLPVLASMTKAADPRFRPRWKVILTFFVGAAILWLLCSHRPAPGRPPTHNAH
  NWRLGQAPANWYNDTYPLSPPQRTPAGIRYRIAVIADLDTESRAQEENTWFSYLKKGYLTLSDSGDKVAVEWDKD
  HGVLESHLAEKGRGMELSDLIVFNGKLYSVDDRTGVVYQIEGSKAVPWVILSDGDGTVEKGFKAEWLAVKDERLY
  VGGLGKEWTTTTGDVVNENPEWVKVVGYKGSVDHENWVSNYNALRAAAGIQPPGYLIHESACWSDTLQRWFFLPR
  RASQERYSEKDDERKGANLLLSASPDFGDIAVSHVGAVVPTHGFSSFKFIPNTDDQIIVALKSEEDSGRVASYIM
  AFTLDGRFLLPETKIGSVKYEGIEFI

• Structural information:
  • Interpro: IPR009283  IPR036258  
  • PDB: 1S18 1S1D 2H2N 2H2U
  • PDBsum: 1S18 1S1D 2H2N 2H2U
  • STRING: ENSP00000307674
• Other Databases: GeneCards:  CANT1  Malacards:  CANT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043262	adenosine-diphosphatase activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0004382	guanosine-diphosphatase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0017110	nucleoside-diphosphatase activity	IEA	molecular function
GO:0045134	uridine-diphosphatase activity	IBA	molecular function
GO:0004382	guanosine-diphosphatase activity	IBA	molecular function
GO:0030166	proteoglycan biosynthetic process	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0017110	nucleoside-diphosphatase activity	IEA	molecular function
GO:0045134	uridine-diphosphatase activity	IEA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0030166	proteoglycan biosynthetic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00240	Pyrimidine metabolism

Diseases

Associated diseases	References
Desbuquois syndrome	KEGG:H00494
Desbuquois syndrome	KEGG:H00494
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq