• Gene id: 53373

Gene Summary

• Gene Symbol: TPCN1   Gene   UCSC   Ensembl
• Aliases: TPC1
• Gene name: two pore segment channel 1
• Alternate names: two pore calcium channel protein 1, two-pore channel 1, homolog, voltage-dependent calcium channel protein TPC1,
• Gene location: 12q24.13 (113221428: 113298588)     Exons: 33     NC_000012.12
• Gene summary(Entrez): Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by
• OMIM: 605748

Protein Summary

• Protein general information: Q9ULQ1  
  • Name: Two pore calcium channel protein 1 (Voltage dependent calcium channel protein TPC1)
  • Length: 816  
  • Mass: 94147
  • Tissue specificity: Highest expression found in the heart and kidney, and lowest expression found in the spleen. {ECO
• Sequence:

  MAVSLDDDVPLILTLDEGGSAPLAPSNGLGQEELPSKNGGSYAIHDSQAPSLSSGGESSPSSPAHNWEMNYQEAA
  IYLQEGENNDKFFTHPKDAKALAAYLFAHNHLFYLMELATALLLLLLSLCEAPAVPALRLGIYVHATLELFALMV
  VVFELCMKLRWLGLHTFIRHKRTMVKTSVLVVQFVEAIVVLVRQMSHVRVTRALRCIFLVDCRYCGGVRRNLRQI
  FQSLPPFMDILLLLLFFMIIFAILGFYLFSPNPSDPYFSTLENSIVSLFVLLTTANFPDVMMPSYSRNPWSCVFF
  IVYLSIELYFIMNLLLAVVFDTFNDIEKRKFKSLLLHKRTAIQHAYRLLISQRRPAGISYRQFEGLMRFYKPRMS
  ARERYLTFKALNQNNTPLLSLKDFYDIYEVAALKWKAKKNREHWFDELPRTALLIFKGINILVKSKAFQYFMYLV
  VAVNGVWILVETFMLKGGNFFSKHVPWSYLVFLTIYGVELFLKVAGLGPVEYLSSGWNLFDFSVTVFAFLGLLAL
  ALNMEPFYFIVVLRPLQLLRLFKLKERYRNVLDTMFELLPRMASLGLTLLIFYYSFAIVGMEFFCGIVFPNCCNT
  STVADAYRWRNHTVGNRTVVEEGYYYLNNFDNILNSFVTLFELTVVNNWYIIMEGVTSQTSHWSRLYFMTFYIVT
  MVVMTIIVAFILEAFVFRMNYSRKNQDSEVDGGITLEKEISKEELVAVLELYREARGASSDVTRLLETLSQMERY
  QQHSMVFLGRRSRTKSDLSLKMYQEEIQEWYEEHAREQEQQRQLSSSAAPAAQQPPGSRQRSQTVT

• Structural information:
  • Interpro: IPR005821  IPR028801  IPR027359  
  • STRING: ENSP00000448083
• Other Databases: GeneCards:  TPCN1  Malacards:  TPCN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0010508	positive regulation of autophagy	IDA	biological process
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0010008	endosome membrane	IBA	cellular component
GO:0072345	NAADP-sensitive calcium-release channel activity	IBA	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IEA	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0015280	ligand-gated sodium channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005248	voltage-gated sodium channel activity	IEA	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0072345	NAADP-sensitive calcium-release channel activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
P06959	CCKR signaling map

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq