Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	53373
Gene name	Two pore segment channel 1
Gene symbol	TPCN1
Synonyms (NCBI Gene)	TPC1
Chromosome	12
Chromosome location	12q24.13
Summary	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

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Show/Hide all (152)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018931	hsa-miR-335-5p	Microarray	18185580
MIRT046365	hsa-miR-23b-3p	CLASH	23622248
MIRT1448962	hsa-miR-1321	CLIP-seq
MIRT1448963	hsa-miR-137	CLIP-seq
MIRT1448964	hsa-miR-153	CLIP-seq
MIRT1448965	hsa-miR-200b	CLIP-seq
MIRT1448966	hsa-miR-200c	CLIP-seq
MIRT1448967	hsa-miR-25	CLIP-seq
MIRT1448968	hsa-miR-3152-3p	CLIP-seq
MIRT1448969	hsa-miR-3175	CLIP-seq
MIRT1448970	hsa-miR-3177-5p	CLIP-seq
MIRT1448971	hsa-miR-3179	CLIP-seq
MIRT1448972	hsa-miR-32	CLIP-seq
MIRT1448973	hsa-miR-3202	CLIP-seq
MIRT1448974	hsa-miR-329	CLIP-seq
MIRT1448975	hsa-miR-362-3p	CLIP-seq
MIRT1448976	hsa-miR-363	CLIP-seq
MIRT1448977	hsa-miR-3650	CLIP-seq
MIRT1448978	hsa-miR-367	CLIP-seq
MIRT1448979	hsa-miR-3678-5p	CLIP-seq
MIRT1448980	hsa-miR-3941	CLIP-seq
MIRT1448981	hsa-miR-4270	CLIP-seq
MIRT1448982	hsa-miR-4271	CLIP-seq
MIRT1448983	hsa-miR-429	CLIP-seq
MIRT1448984	hsa-miR-4299	CLIP-seq
MIRT1448985	hsa-miR-4441	CLIP-seq
MIRT1448986	hsa-miR-4456	CLIP-seq
MIRT1448987	hsa-miR-4468	CLIP-seq
MIRT1448988	hsa-miR-448	CLIP-seq
MIRT1448989	hsa-miR-4725-3p	CLIP-seq
MIRT1448990	hsa-miR-4728-5p	CLIP-seq
MIRT1448991	hsa-miR-4739	CLIP-seq
MIRT1448992	hsa-miR-4747-5p	CLIP-seq
MIRT1448993	hsa-miR-4756-5p	CLIP-seq
MIRT1448994	hsa-miR-496	CLIP-seq
MIRT1448995	hsa-miR-548q	CLIP-seq
MIRT1448996	hsa-miR-589	CLIP-seq
MIRT1448997	hsa-miR-603	CLIP-seq
MIRT1448998	hsa-miR-625	CLIP-seq
MIRT1448999	hsa-miR-92a	CLIP-seq
MIRT1449000	hsa-miR-92b	CLIP-seq
MIRT1449001	hsa-miR-936	CLIP-seq
MIRT1449002	hsa-miR-3173-3p	CLIP-seq
MIRT1449003	hsa-miR-3190	CLIP-seq
MIRT1449004	hsa-miR-4252	CLIP-seq
MIRT1449005	hsa-miR-4318	CLIP-seq
MIRT1449006	hsa-miR-4695-5p	CLIP-seq
MIRT1449007	hsa-miR-4717-5p	CLIP-seq
MIRT2134331	hsa-miR-3670	CLIP-seq
MIRT2134332	hsa-miR-4519	CLIP-seq
MIRT2134333	hsa-miR-516b	CLIP-seq
MIRT1448963	hsa-miR-137	CLIP-seq
MIRT1448964	hsa-miR-153	CLIP-seq
MIRT2355538	hsa-miR-1976	CLIP-seq
MIRT1448965	hsa-miR-200b	CLIP-seq
MIRT1448966	hsa-miR-200c	CLIP-seq
MIRT1448967	hsa-miR-25	CLIP-seq
MIRT2355539	hsa-miR-3130-3p	CLIP-seq
MIRT1448968	hsa-miR-3152-3p	CLIP-seq
MIRT1448972	hsa-miR-32	CLIP-seq
MIRT2355540	hsa-miR-3611	CLIP-seq
MIRT1448976	hsa-miR-363	CLIP-seq
MIRT2355541	hsa-miR-3652	CLIP-seq
MIRT1448978	hsa-miR-367	CLIP-seq
MIRT1448979	hsa-miR-3678-5p	CLIP-seq
MIRT2355542	hsa-miR-3682-5p	CLIP-seq
MIRT2355543	hsa-miR-3688-3p	CLIP-seq
MIRT2355544	hsa-miR-370	CLIP-seq
MIRT1448983	hsa-miR-429	CLIP-seq
MIRT2355545	hsa-miR-4430	CLIP-seq
MIRT2355546	hsa-miR-4474-3p	CLIP-seq
MIRT1448988	hsa-miR-448	CLIP-seq
MIRT2355547	hsa-miR-4505	CLIP-seq
MIRT2355548	hsa-miR-4525	CLIP-seq
MIRT2355549	hsa-miR-455-5p	CLIP-seq
MIRT2355550	hsa-miR-4646-5p	CLIP-seq
MIRT1448992	hsa-miR-4747-5p	CLIP-seq
MIRT2355551	hsa-miR-4793-3p	CLIP-seq
MIRT1448994	hsa-miR-496	CLIP-seq
MIRT2355552	hsa-miR-520a-5p	CLIP-seq
MIRT2355553	hsa-miR-525-5p	CLIP-seq
MIRT2355554	hsa-miR-544	CLIP-seq
MIRT1448998	hsa-miR-625	CLIP-seq
MIRT2355555	hsa-miR-767-5p	CLIP-seq
MIRT1448999	hsa-miR-92a	CLIP-seq
MIRT1449000	hsa-miR-92b	CLIP-seq
MIRT1449001	hsa-miR-936	CLIP-seq
MIRT2396237	hsa-miR-3689a-3p	CLIP-seq
MIRT2396238	hsa-miR-3689c	CLIP-seq
MIRT1448982	hsa-miR-4271	CLIP-seq
MIRT2355547	hsa-miR-4505	CLIP-seq
MIRT2396239	hsa-miR-4648	CLIP-seq
MIRT2396240	hsa-miR-4654	CLIP-seq
MIRT1448989	hsa-miR-4725-3p	CLIP-seq
MIRT1448990	hsa-miR-4728-5p	CLIP-seq
MIRT2396241	hsa-miR-4769-5p	CLIP-seq
MIRT2462201	hsa-miR-331-3p	CLIP-seq
MIRT2462202	hsa-miR-3692	CLIP-seq
MIRT2462203	hsa-miR-4749-3p	CLIP-seq
MIRT2462201	hsa-miR-331-3p	CLIP-seq
MIRT2462202	hsa-miR-3692	CLIP-seq
MIRT2462203	hsa-miR-4749-3p	CLIP-seq
MIRT2649144	hsa-miR-1225-5p	CLIP-seq
MIRT2649145	hsa-miR-1255a	CLIP-seq
MIRT2649146	hsa-miR-1255b	CLIP-seq
MIRT2649147	hsa-miR-1262	CLIP-seq
MIRT2649148	hsa-miR-1305	CLIP-seq
MIRT2649149	hsa-miR-1915	CLIP-seq
MIRT2649150	hsa-miR-2115	CLIP-seq
MIRT2649151	hsa-miR-3117-5p	CLIP-seq
MIRT2649152	hsa-miR-3136-3p	CLIP-seq
MIRT2649153	hsa-miR-3614-5p	CLIP-seq
MIRT2649154	hsa-miR-3913-3p	CLIP-seq
MIRT2649155	hsa-miR-3926	CLIP-seq
MIRT2649156	hsa-miR-3977	CLIP-seq
MIRT2649157	hsa-miR-421	CLIP-seq
MIRT2649158	hsa-miR-425	CLIP-seq
MIRT1449004	hsa-miR-4252	CLIP-seq
MIRT2649159	hsa-miR-4701-3p	CLIP-seq
MIRT2649160	hsa-miR-4712-3p	CLIP-seq
MIRT2649161	hsa-miR-4725-5p	CLIP-seq
MIRT2649162	hsa-miR-4769-3p	CLIP-seq
MIRT2649163	hsa-miR-489	CLIP-seq
MIRT2649164	hsa-miR-504	CLIP-seq
MIRT2649165	hsa-miR-516a-3p	CLIP-seq
MIRT2649166	hsa-miR-548aa	CLIP-seq
MIRT2649167	hsa-miR-548s	CLIP-seq
MIRT2649168	hsa-miR-663b	CLIP-seq
MIRT2649144	hsa-miR-1225-5p	CLIP-seq
MIRT2649145	hsa-miR-1255a	CLIP-seq
MIRT2649146	hsa-miR-1255b	CLIP-seq
MIRT2649147	hsa-miR-1262	CLIP-seq
MIRT2649149	hsa-miR-1915	CLIP-seq
MIRT2649151	hsa-miR-3117-5p	CLIP-seq
MIRT2649152	hsa-miR-3136-3p	CLIP-seq
MIRT2693942	hsa-miR-3200-5p	CLIP-seq
MIRT2649153	hsa-miR-3614-5p	CLIP-seq
MIRT2693943	hsa-miR-3616-3p	CLIP-seq
MIRT2355544	hsa-miR-370	CLIP-seq
MIRT2649154	hsa-miR-3913-3p	CLIP-seq
MIRT2649155	hsa-miR-3926	CLIP-seq
MIRT2649158	hsa-miR-425	CLIP-seq
MIRT1449004	hsa-miR-4252	CLIP-seq
MIRT2693944	hsa-miR-4303	CLIP-seq
MIRT2649159	hsa-miR-4701-3p	CLIP-seq
MIRT2649160	hsa-miR-4712-3p	CLIP-seq
MIRT2693945	hsa-miR-4761-3p	CLIP-seq
MIRT2649162	hsa-miR-4769-3p	CLIP-seq
MIRT2649163	hsa-miR-489	CLIP-seq
MIRT2649166	hsa-miR-548aa	CLIP-seq
MIRT2649167	hsa-miR-548s	CLIP-seq
MIRT2649168	hsa-miR-663b	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	24776928
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	15094197, 21903581, 24188827
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	TAS	22012985
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	19620632, 23063126
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	TAS	22012985
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0010008	Component	Endosome membrane	IBA
GO:0010008	Component	Endosome membrane	IDA	19620632, 23063126
GO:0010008	Component	Endosome membrane	IEA
GO:0010508	Process	Positive regulation of autophagy	IDA	22012985
GO:0015280	Function	Ligand-gated sodium channel activity	IDA	23063126, 24776928
GO:0015280	Function	Ligand-gated sodium channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019905	Function	Syntaxin binding	IEA
GO:0022832	Function	Voltage-gated channel activity	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0036019	Component	Endolysosome	IDA	24776928
GO:0036019	Component	Endolysosome	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	21903581
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055038	Component	Recycling endosome membrane	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0072345	Function	NAADP-sensitive calcium-release channel activity	IDA	24776928
GO:0072345	Function	NAADP-sensitive calcium-release channel activity	IDA	19620632
GO:0072345	Function	NAADP-sensitive calcium-release channel activity	TAS
GO:0075509	Process	Endocytosis involved in viral entry into host cell	IEA
GO:0075509	Process	Endocytosis involved in viral entry into host cell	IMP	25722412
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IEA
GO:0097682	Function	Intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity	IDA	23063126, 24776928
GO:0097682	Function	Intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity	IEA

MIM	HGNC	e!Ensembl
609666	18182	ENSG00000186815

Q9ULQ1

Protein name

Two pore channel protein 1 (Two pore calcium channel protein 1) (Voltage-dependent calcium channel protein TPC1)

Protein function

Intracellular channel initially characterized as a non-selective Ca(2+)-permeable channel activated by NAADP (nicotinic acid adenine dinucleotide phosphate), it is also a voltage-gated highly-selective Na(+) channel activated directly by PI(3,5)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	105 → 331	Ion transport protein	Family
PF00520	Ion_trans	440 → 694	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Highest expression found in the heart and kidney, and lowest expression found in the spleen. {ECO:0000269|PubMed:10574461}.

Sequence

MAVSLDDDVPLILTLDEGGSAPLAPSNGLGQEELPSKNGGSYAIHDSQAPSLSSGGESSP
SSPAHNWEMNYQEAAIYLQEGENNDKFFTHPKDAKALAAYLFAHNHLFYLMELATALLLL
LLSLCEAPAVPALRLGIYVHATLELFALMVVVFELCMKLRWLGLHTFIRHKRTMVKTSVL
VVQFVEAIVVLVRQMSHVRVTRALRCIFLVDCRYCGGVRRNLRQIFQSLPPFMDILLLLL
FFMIIFAILGFYLFSPNPSDPYFSTLENSIVSLFVLLTTANFPDVMMPSYSRNPWSCVFF
IVYLSIELYFIMNLLLAVVFDTFNDIEKRKFKSLLLHKRTAIQHAYRLLISQRRPAGISY
RQFEGLMRFYKPRMSARERYLTFKALNQNNTPLLSLKDFYDIYEVAALKWKAKKNREHWF
DELPRTALLIFKGINILVKSKAFQYFMYLVVAVNGVWILVETFMLKGGNFFSKHVPWSYL
VFLTIYGVELFLKVAGLGPVEYLSSGWNLFDFSVTVFAFLGLLALALNMEPFYFIVVLRP
LQLLRLFKLKERYRNVLDTMFELLPRMASLGLTLLIFYYSFAIVGMEFFCGIVFPNCCNT
STVADAYRWRNHTVGNRTVVEEGYYYLNNFDNILNSFVTLFELTVVNNWYIIMEGVTSQT
SHWSRLYFMTFYIVTMVVMTIIVAFILEAFVFRMNYSRKNQDSEVDGGITLEKEISKEEL
VAVLELYREARGASSDVTRLLETLSQMERYQQHSMVFLGRRSRTKSDLSLKMYQEEIQEW
YEEHAREQEQQRQLSSSAAPAAQQPPGSRQRSQTVT

Sequence length

816

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway		Stimuli-sensing channels

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs146118100, rs11837633	RCV005905061 RCV005910164
Adrenocortical carcinoma, hereditary	Benign	rs11837633	RCV005910166
Cervical cancer	Benign	rs11837633	RCV005910167
Cholangiocarcinoma	Benign; Likely benign	rs146118100	RCV005905070
Clear cell carcinoma of kidney	Benign; Likely benign	rs146118100, rs11837633	RCV005905065 RCV005910168
Colon adenocarcinoma	Benign; Likely benign	rs146118100, rs11837633	RCV005905060 RCV005910163
Colorectal cancer	Benign	rs11837633	RCV005910169
Familial cancer of breast	Benign; Likely benign	rs146118100	RCV005905059
Gastric cancer	Benign; Likely benign	rs146118100, rs11837633	RCV005905067 RCV005910170
Lung cancer	Benign	rs11837633	RCV005910174
Malignant tumor of esophagus	Benign; Likely benign	rs146118100, rs11837633	RCV005905063 RCV005910165
Malignant tumor of urinary bladder	Benign; Likely benign	rs146118100	RCV005905062
Melanoma	Benign	rs11837633	RCV005910173
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs146118100	RCV005905064
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs146118100, rs11837633	RCV005905068 RCV005910171
Sarcoma	Benign; Likely benign	rs146118100	RCV005905066
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs146118100	RCV005905069
Uterine carcinosarcoma	Benign	rs11837633	RCV005910172
Uterine corpus endometrial carcinoma	Benign	rs11837633	RCV005910175

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	36191742
Asthma	Associate	37649101
Cardiomyopathies	Associate	32037394
Heart Diseases	Associate	32037394
Heart Failure	Stimulate	22701570
Lewy Body Disease	Associate	36191742
Respiratory Sounds	Associate	37649101
Thyroid Cancer Papillary	Associate	2516841

TPCN1 (two pore segment channel 1)