TPCN1 - two pore segment channel 1 Gene

Also Known as TPC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 53373

About TPCN1

Cytogenetic location: 12q24.13 Genomic coordinates (GRCh38): 12:113,221,464-113,298,585 (from NCBI)

This gene has 23 transcripts (splice variants), 200 orthologues and 26 paralogues. Ubiquitous expression in kidney (RPKM 17.8), heart (RPKM 16.1) and 25 other tissues.

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 OMIM, Mar 2008]

TPCN1 Products (5)

mRNA	Protein	Name
NM_001143819.3	NP_001137291.1	two pore channel protein 1 isoform 1
NM_001301214.2	NP_001288143.1	two pore channel protein 1 isoform 3
NM_001351346.2	NP_001338275.1	two pore channel protein 1 isoform 3
NM_001351347.1	NP_001338276.1	two pore channel protein 1 isoform 3
NM_017901.6	NP_060371.2	two pore channel protein 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables NAADP-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	24776928	GOA
enables NAADP-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	19620632	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	21903581	GOA
enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity	IDA IDA: Inferred from direct assay	23063126	GOA
enables ligand-gated sodium channel activity	IDA IDA: Inferred from direct assay	23063126	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15094197	GOA
enables voltage-gated sodium channel activity	IDA IDA: Inferred from direct assay	24776928	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in endocytosis involved in viral entry into host cell	IMP IMP: Inferred from mutant phenotype	25722412	GOA
involved in positive regulation of autophagy	IDA IDA: Inferred from direct assay	22012985	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endolysosome	IDA IDA: Inferred from direct assay	24776928	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	19620632	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	19620632	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TPCN1 Protein Structure

Ion_trans

0
200
400
600
816 a.a.

Protein Preferred Names	Protein Names
two pore channel protein 1	two pore calcium channel protein 1

TPCN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TPCN1	Q9ULQ1	HAX1	Homo sapiens	O00165	Y2H	24188827
Intra	TPCN1	Q9ULQ1	TPCN2	Homo sapiens	Q8NHX9	IF	21903581
Intra	TPCN1	Q9ULQ1	TPCN2	Homo sapiens	Q8NHX9	Anti Tag CoIP	21903581
Intra	TPCN1	Q9ULQ1	MTOR	Homo sapiens	P42345	Anti Tag CoIP	23394946
Intra	TPCN1	Q9ULQ1	TPCN1	Homo sapiens	Q9ULQ1	Anti Tag CoIP	21903581
Intra	TPCN1	Q9ULQ1	TPCN1	Homo sapiens	Q9ULQ1	FRET	21903581

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Jugular Foramen Meningioma	Meningioma Of The Jugular Foramen
Thyroid Gland Cancer	Thyroid Gland Carcinoma Malignant Neoplasm Of Thyroid Gland Malignant Tumour Of Thyroid Gland Thyroid Neoplasm Thyroid Neoplasms Neoplasm Of Thyroid Gland Thyroid Gland Neoplasm Head And Neck Cancer, Thyroid Neoplasm Of The Thyroid Gland Cancer Of The Thyroid Primary Malignant Neoplasm Of Thyroglossal Duct Malignant Neoplasm Of Thyroglossal Duct Primary Malignant Neoplasm Of Thyroid Gland Thyroglossal Duct Cancer Toxic Goitre Malignant Tumour Cancerous Goitre
Thyroid Gland Follicular Carcinoma	Follicular Thyroid Carcinoma Follicular Adenocarcinoma Follicular Adenocarcinoma, Well Differentiated Follicular Carcinoma Thyroid Adenocarcinoma Adenocarcinoma, Follicular
Mucolipidosis Iv	Mucolipidosis Type Iv ML4 Sialolipidosis Mucolipidosis Type 4 Ganglioside Sialidase Deficiency Mliv Ml Iv Berman Syndrome Ganglioside Neuraminidase Deficiency Ml 4 Mucolipidosis 4 Type Iv Mucolipidosis Gangliosidoses
Thyroid Gland Medullary Carcinoma	Medullary Thyroid Carcinoma Medullary Carcinoma Of The Thyroid Gland Ultimobranchial Thyroid Tumor Ultimobranchial Thyroid Tumour Thyroid Cancer, Medullary
Nodular Goiter	Goiter, Nodular Nodular Goitre Goiter Nodular Non-Toxic Nodular Goiter
Schwannoma Of Twelfth Cranial Nerve	Hypoglossal Schwannoma Schwannoma Of The Twelfth Cranial Nerve
Hypoglossal Nerve Disease	Hypoglossal Nerve Diseases Disorder Of 12th Nerve Disorder Of Hypoglossal [12th] Nerve Disorder Of Hypoglossal Nerve Disorder Of Xii Nerve Disorders Of The Twelfth Cranial Nerve Disorders Of 12th Cranial Nerve
Thyroid Gland Anaplastic Carcinoma	Anaplastic Thyroid Carcinoma Anaplastic Thyroid Cancer Thyroid Cancer, Anaplastic Thyroid Carcinoma, Anaplastic Thyroid Carcinoma Anaplastic
Thyroid Gland Disease	Abnormality Of The Thyroid Gland Thyroid Diseases
Mucolipidosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14926	TPCN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TPCN1	VGNC	VGNC:36243
Macaca mulatta	TPCN1	VGNC	VGNC:79117
Rattus norvegicus	TPCN1	RGD	RGD:708494
Canis familiaris	TPCN1	VGNC	VGNC:47732
Felis catus	TPCN1	VGNC	VGNC:80540
Mus musculus	TPCN1	MGD	MGI:2182472
Others	TPCN1	NCBI