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

TPCN1 - two pore segment channel 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：二孔段通道 1

种属: Homo sapiens

同用名: TPC1

基因 ID: 53373 | 基因类型: protein coding

关于 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.

功能概要

电压门控 CA (2+) 和 Na+ 通道有 4 个同源结构域，每个结构域包含 6 个跨膜片段，S1 到 S6。 TPCN1 类似于这些通道，但它只有 2 个域包含 S1 到 S6 (Ishibashi 等人，2000 [PubMed 10753632]) 。[OMIM 提供，2008 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables NAADP-sensitive calcium-release channel activity IDA
IDA: 通过直接分析推断
24776928 GOA
enables NAADP-sensitive calcium-release channel activity IDA
IDA: 通过直接分析推断
19620632 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
21903581 GOA
enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity IDA
IDA: 通过直接分析推断
23063126 GOA
enables ligand-gated sodium channel activity IDA
IDA: 通过直接分析推断
23063126 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15094197 GOA
enables voltage-gated sodium channel activity IDA
IDA: 通过直接分析推断
24776928 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endocytosis involved in viral entry into host cell IMP
IMP: 通过突变表型推断
25722412 GOA
involved in positive regulation of autophagy IDA
IDA: 通过直接分析推断
22012985 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endolysosome IDA
IDA: 通过直接分析推断
24776928 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
19620632 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
19620632 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TPCN1 蛋白结构

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.
蛋白主名 其他名称

two pore channel protein 1

two pore calcium channel protein 1

TPCN1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14926 TPCN1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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