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  2. NISCH - nischarin Gene

NISCH - nischarin Gene

中文名称:尼斯查林

种属: Homo sapiens

同用名: I-1; IR1; IRAS; hIRAS

基因 ID: 11188 | 基因类型: protein coding

关于 NISCH

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:52,455,604-52,493,068 (from NCBI)

This gene has 14 transcripts (splice variants), 210 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 30.5), prostate (RPKM 22.8) and 25 other tissues.

功能概要

该基因编码一种非肾上腺素能咪唑啉-1 受体蛋白,该蛋白定位于胞质溶胶并锚定于质膜的内层。直系同源小鼠蛋白已显示通过与 alpha-5-beta-1 整合素结合来影响细胞骨架组织和细胞迁移。在人类中,这种蛋白质已被证明与适配器胰岛素受体底物 4 (IRS4) 结合,以介导 alpha-5 整合素从细胞膜转移到核内体。该蛋白在人类乳腺癌中的表达减少,而其过度表达则减少了肿瘤的生长和转移;可能是通过限制 alpha-5 整合素的表达。在人类心脏组织中,该基因被发现影响细胞生长和死亡,而在神经组织中,它影响神经元的生长和分化。可变剪接导致编码不同亚型的多个转录变体。一些亚型缺乏功能性咪唑啉受体的预期 C 末端结构域。[RefSeq 提供,2013 年 1 月]

This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 Integrin. In humans, this protein has been shown to bind to the adapter Insulin Receptor substrate 4 (IRS4) to mediate translocation of alpha-5 Integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 Integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional Imidazoline Receptor. [provided by RefSeq, Jan 2013]

NISCH 基因产物(3)

mRNA Protein Name
NM_001276293.2 NP_001263222.2 nischarin isoform 2
NM_001276294.2 NP_001263223.2 nischarin isoform 3
NM_007184.4 NP_009115.3 nischarin isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
23386062 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23386062 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
15028622 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
15028622 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

NISCH 蛋白结构

PX

PX: PX domain (20 - 117)

LRR_8

LRR_8: Leucine rich repeat (289 - 344)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1504 a.a.
蛋白主名 其他名称

nischarin

I-1 receptor candidate protein

NISCH 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
NISCH Q9Y2I1 RAB9A Homo sapiens P51151
Y2H
23386062
种属内
NISCH Q9Y2I1 RAB9A Homo sapiens P51151 23386062
种属内
NISCH Q9Y2I1 RAB9A Homo sapiens P51151 23386062
种属内
NISCH Q9Y2I1 RAB9A Homo sapiens P51151
IF
23386062
种属间
NISCH Q9Y2I1 Rab14 Rattus norvegicus P61107
IF
23386062
种属间
NISCH Q9Y2I1 Rab14 Rattus norvegicus P61107
Y2H
23386062
种属间
NISCH Q9Y2I1 Rab14 Rattus norvegicus P61107 23386062
种属间
NISCH Q9Y2I1 Rab4a Rattus norvegicus P05714
Y2H
23386062
种属间
NISCH Q9Y2I1 Rab4a Rattus norvegicus P05714 23386062
种属间
NISCH Q9Y2I1 Rab14 Rattus norvegicus P61107 23386062
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
Aplasia Of Lacrimal And Salivary Glands

ALSG

Congenital Absence Of Lacrimal Puncta And Salivary Glands

Xerostomia

Absence Of Salivary Glands

Parotid Aplasia Or Hypoplasia

Congenital Absence Of Lacrimal Puncta Or Salivary Glands

Alsg - [Aplasia Of Lacrimal Or Salivary Glands]

Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis

BRIC1

Summerskill Syndrome

Bric

Summerskill-Walshe-Tygstrup Syndrome

Cholestasis, Benign Recurrent Intrahepatic

Benign Recurrent Intrahepatic Cholestasis 1

Benign Recurrent Intrahepatic Cholestasis Type 1

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Benign Recurrent Intrahepatic 1

Mild Atp8b1 Deficiency

Recurrent Familial Intrahepatic Cholestasis 1

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Bric - [Benign Recurrent Intrahepatic Cholestasis]

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Sclerosing Cholangitis

Fibrosing Cholangitis

Cholangitis, Sclerosing

Primary Sclerosing Cholangitis

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus NISCH VGNC VGNC:32088
Rattus norvegicus NISCH RGD RGD:1306950
Felis catus NISCH VGNC VGNC:80640
Mus musculus NISCH MGD MGI:1928323
Canis familiaris NISCH VGNC VGNC:43822
Macaca mulatta NISCH VGNC VGNC:84147