2. Gene
  3. ITPR3 - inositol 1,4,5-trisphosphate receptor type 3 Gene

ITPR3 - inositol 1,4,5-trisphosphate receptor type 3 Gene

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

中文名称：肌醇 1,4,5-三磷酸受体 3 型

种属: Homo sapiens

同用名: IP3R; CMT1J; IP3R3

基因 ID: 3710 | 基因类型: protein coding

关于 ITPR3

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:33,621,322-33,696,562 (from NCBI)

This gene has 2 transcripts (splice variants), 227 orthologues, 5 paralogues and is associated with 1 phenotype. Broad expression in thyroid (RPKM 29.7), skin (RPKM 28.2) and 22 other tissues.

功能概要

该基因编码肌醇 1,4,5-三磷酸受体，这是介导细胞内钙释放的第二信使。该受体在 C 端包含钙通道，在 N 端包含配体结合位点。小鼠基因敲除研究表明，2 型和 3 型肌醇 1,4,5-三磷酸受体在能量代谢和生长的外分泌分泌中起关键作用。[RefSeq 提供，2010 年 8 月]

This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a Calcium Channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]

ITPR3 基因产物(1)

mRNA Protein Name
NM_002224.4 NP_002215.2 inositol 1,4,5-trisphosphate receptor type 3
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
enables inositol 1,4,5 trisphosphate binding IDA
IDA: 通过直接分析推断
8288584 GOA
enables inositol 1,4,5-trisphosphate-gated calcium channel activity IDA
IDA: 通过直接分析推断
10828023 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10611319 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion homeostasis IMP
IMP: 通过突变表型推断
32949214 GOA
involved in platelet activation IDA
IDA: 通过直接分析推断
10828023 GOA
involved in protein homotetramerization IDA
IDA: 通过直接分析推断
37898605 GOA
involved in response to calcium ion IDA
IDA: 通过直接分析推断
19052258 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
21062895 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10828023 GOA
part of receptor complex IDA
IDA: 通过直接分析推断
23382219 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

ITPR3 蛋白结构

Ins145_P3_rec

Ins145_P3_rec: Inositol 1,4,5-trisphosphate/ryanodine receptor (4 - 229)

MIR

MIR: MIR domain (234 - 431)

RYDR_ITPR

RYDR_ITPR: RIH domain (472 - 674)

RYDR_ITPR

RYDR_ITPR: RIH domain (1173 - 1343)

RIH_assoc

RIH_assoc: RyR and IP3R Homology associated (1866 - 1977)

Ion_trans

Ion_trans: Ion transport protein (2297 - 2516)

  • 0
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  • 2000
  • 2500
  • 2671 a.a.
蛋白主名 其他名称

inositol 1,4,5-trisphosphate receptor type 3

IP3 receptor

ITPR3 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
种属内
ITPR3 Q14573 TRPC3 Homo sapiens Q13507
Anti Tag CoIP
10611319
种属内
ITPR3 Q14573 TRPC3 Homo sapiens Q13507
Pull Down
10611319
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
Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications
Anhidrosis, Isolated, With Normal Sweat Glands

Isolated Anhidrosis With Normal Sweat Glands

Dann-Epstein-Sohar Syndrome

ANHD

Isolated Generalized Anhidrosis With Normal Sweat Glands

Anhidrosis, Familial Generalized, With Normal Sweat Glands
Gillespie Syndrome

GLSP

Aniridia, Cerebellar Ataxia And Mental Deficiency

Aniridia Cerebellar Ataxia Mental Deficiency

Aniridia, Cerebellar Ataxia, And Mental Retardation

Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

Aniridia-Cerebellar Ataxia-Intellectual Disability

Aniridia-Cerebellar Ataxia-Mental Deficiency

Partial Aniridia-Cerebellar Ataxia-Oligophrenia

Aniridia, Cerebellar Ataxia, And Intellectual Disability
Amyotrophic Lateral Sclerosis 16, Juvenile

Amyotrophic Lateral Sclerosis Type 16

ALS16

Amyotrophic Lateral Sclerosis 16

Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile
Immunodeficiency 10

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2

Combined Immunodeficiency Due To Stim1 Deficiency

IMD10

Stim1 Deficiency

Cid Due To Stim1 Deficiency

Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2

Immunodeficiency, Type 10
T Cell And Nk Cell Immunodeficiency
Wolfram Syndrome 2

WFS2
Cerebral Palsy, Ataxic, Autosomal Recessive

Ataxic Cerebral Palsy

Acp

Hypotonic Cerebral Palsy

Cerebral Palsy Ataxic

Cerebral Palsy, Atonic

Congenital Cerebral Palsy With Ataxia

Ataxic Cerebral Paralysis

Ataxia With Cerebral Palsy

Cerebral Infantile Diataxia
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies
Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever
Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
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-RS06993 ITPR3 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 ITPR3 VGNC VGNC:30348
Rattus norvegicus ITPR3 RGD RGD:2934
Felis catus ITPR3 VGNC VGNC:67871
Mus musculus ITPR3 MGD MGI:96624
Canis familiaris ITPR3 VGNC VGNC:42159
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