2. Gene
  3. JPH1 - junctophilin 1 Gene

JPH1 - junctophilin 1 Gene

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

中文名称：亲连接素 1

种属: Homo sapiens

同用名: JP1; JP-1; CMT2K

基因 ID: 56704 | 基因类型: protein coding

关于 JPH1

Cytogenetic location: 8q21.11 Genomic coordinates (GRCh38): 8:74,234,700-74,321,540 (from NCBI)

This gene has 3 transcripts (splice variants), 268 orthologues, 3 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 3.3), lung (RPKM 3.1) and 20 other tissues.

功能概要

质膜和内质/肌浆网之间的连接复合物是所有可兴奋细胞类型的共同特征，并介导细胞表面和细胞内离子通道之间的串扰。由该基因编码的蛋白质是连接复合物的一个组成部分，由跨越内质/肌质网膜的 C 末端疏水片段和对质膜显示特异性亲和力的剩余细胞质结构域组成。该基因是 junctophilin 基因家族的成员。[RefSeq 提供，2008 年 7 月]

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]

JPH1 基因产物(4)

mRNA Protein Name
NM_001317830.2 NP_001304759.1 junctophilin-1
NM_001363050.1 NP_001349979.1 junctophilin-1
NM_001363051.1 NP_001349980.1 junctophilin-1
NM_020647.4 NP_065698.1 junctophilin-1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

JPH1 蛋白结构

MORN

MORN: MORN repeat (14 - 34)

MORN

MORN: MORN repeat (38 - 59)

MORN

MORN: MORN repeat (60 - 76)

MORN

MORN: MORN repeat (82 - 98)

MORN

MORN: MORN repeat (106 - 128)

MORN

MORN: MORN repeat (129 - 146)

MORN

MORN: MORN repeat (281 - 302)

MORN

MORN: MORN repeat (304 - 325)

  • 0
  • 200
  • 400
  • 600
  • 661 a.a.
蛋白主名 其他名称

junctophilin-1

junctophilin type 1

JPH1 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 JPH1 Q9HDC5 AQP6 Homo sapiens Q13520
Y2H Array
32296183
Intra JPH1 Q9HDC5 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
Intra JPH1 Q9HDC5 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra JPH1 Q9HDC5 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra JPH1 Q9HDC5 GPR42 Homo sapiens O15529
Y2H Prey Pooling
32296183
Intra JPH1 Q9HDC5 GPR42 Homo sapiens O15529
Y2H Array
32296183
Intra JPH1 Q9HDC5 NAT8 Homo sapiens Q9UHE5
Validated Y2H
32296183
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
Charcot-Marie-Tooth Disease, Axonal, Type 2k

Charcot-Marie-Tooth Disease Axonal Type 2k

CMT2K

Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness

Arcmt2k

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2k

Autosomal Recessive Axonal Cmt4c4

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2k

Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2k

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Disease Type 2k

Charcot-Marie-Tooth Neuropathy Axonal Type 2k

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k

Charcot-Marie-Tooth Disease 2k

Charcot-Marie-Tooth Disease Neuronal Type 2k

Charcot-Marie-Tooth Neuropathy Type 2k

Charcot-Marie-Tooth Disease, Type 2k
Charcot-Marie-Tooth Disease, Recessive Intermediate A

Charcot-Marie-Tooth Disease Recessive Intermediate A

CMTRIA

Ri-Cmta

Charcot-Marie-Tooth Disease, Recessive Intermediate, A

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A

Charcot-Marie-Tooth Neuropathy Recessive Intermediate A

Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A

Ri-Cmt Type A

Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A
Huntington Disease-Like 2

HDL2

Huntington'S Disease-Like 2

Huntington Disease-Like, Type 2
Osteogenesis Imperfecta, Type Iv

Osteogenesis Imperfecta Type 4

Osteogenesis Imperfecta Type Iv

OI4

Oi, Type Iv

Osteogenesis Imperfecta With Normal Sclerae

Oi Type Iv

Oi Type 4

Osteogenesis Imperfecta With Normal Sclera

Common Variable Oi With Normal Sclerae

Osteogenesis Imperfecta 4

Oi-Iv
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
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
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-RS07045 JPH1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris JPH1 VGNC VGNC:42194
Mus musculus JPH1 MGD MGI:1891495
Rattus norvegicus JPH1 RGD RGD:1308789
Macaca mulatta JPH1 VGNC VGNC:104460
Felis catus JPH1 VGNC VGNC:63011
Bos taurus JPH1 VGNC VGNC:30380
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