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 Références 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 Références 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 Références 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

TPCN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
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. Nom du produit
Effect
Pureté
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