2. Gene
  3. TPCN1 - two pore segment channel 1 Gene

TPCN1 - two pore segment channel 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as TPC1

Gene ID: 53373 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Ion_trans: Ion transport protein (143 - 319)

Ion_trans

Ion_trans: Ion transport protein (480 - 685)

  • 0
  • 200
  • 400
  • 600
  • 816 a.a.
Protein Preferred Names Protein Names

two pore channel protein 1

two pore calcium channel protein 1

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14926 TPCN1 Human Pre-designed siRNA Set A Pre-designed Sets / 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