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

TPCN1 - two pore segment channel 1 Gene

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

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

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