2. Gene
  3. KALRN - kalirin RhoGEF kinase Gene

KALRN - kalirin RhoGEF kinase Gene

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

中文名称：钾素 RhoGEF 激酶

种属: Homo sapiens

同用名: DUO; CHD5; DUET; TRAD; CHDS5; HAPIP; ARHGEF24

基因 ID: 8997 | 基因类型: protein coding

关于 KALRN

Cytogenetic location: 3q21.1-q21.2 Genomic coordinates (GRCh38): 3:124,033,369-124,726,325 (from NCBI)

Broad expression in brain (RPKM 3.5), small intestine (RPKM 1.5) and 20 other tissues.

功能概要

亨廷顿舞蹈病 (HD) 是一种以纹状体神经元丢失为特征的神经退行性疾病，是由 HD 蛋白亨廷顿蛋白中的聚谷氨酰胺束扩张引起的。该基因编码一种与亨廷顿相关蛋白 1 相互作用的蛋白质，亨廷顿相关蛋白 1 是一种可能在囊泡运输中起作用的亨廷顿结合蛋白。[RefSeq 提供，2016 年 4 月]

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein Huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a Huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]

KALRN 基因产物(25)

mRNA Protein Name
NM_001024660.5 NP_001019831.2 kalirin isoform 1
NM_001322988.2 NP_001309917.1 kalirin isoform 4
NM_001322989.2 NP_001309918.1 kalirin isoform 5
NM_001322990.2 NP_001309919.1 kalirin isoform 6
NM_001322991.2 NP_001309920.1 kalirin isoform 7
NM_001322992.2 NP_001309921.1 kalirin isoform 8
NM_001322993.2 NP_001309922.1 kalirin isoform 9
NM_001322994.2 NP_001309923.1 kalirin isoform 10
NM_001322995.2 NP_001309924.1 kalirin isoform 11
NM_001322996.2 NP_001309925.1 kalirin isoform 12
NM_001322997.2 NP_001309926.1 kalirin isoform 13
NM_001322998.2 NP_001309927.1 kalirin isoform 14
NM_001322999.2 NP_001309928.1 kalirin isoform 15
NM_001323000.2 NP_001309929.1 kalirin isoform 16
NM_001323001.2 NP_001309930.1 kalirin isoform 17
NM_001388412.1 NP_001375341.1 kalirin isoform 18
NM_001388413.1 NP_001375342.1 kalirin isoform 19
NM_001388414.1 NP_001375343.1 kalirin isoform 20
NM_001388415.1 NP_001375344.1 kalirin isoform 21
NM_001388416.1 NP_001375345.1 kalirin isoform 22
NM_001388417.1 NP_001375346.1 kalirin isoform 23
NM_001388418.1 NP_001375347.1 kalirin isoform 24
NM_001388419.1 NP_001375348.1 kalirin isoform 25
NM_003947.6 NP_003938.1 kalirin isoform 2
NM_007064.5 NP_008995.2 kalirin isoform 3
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 guanyl-nucleotide exchange factor activity EXP
EXP: 通过实验结果推断
12546821 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23284848 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

KALRN 蛋白结构

CRAL_TRIO_2

CRAL_TRIO_2: Divergent CRAL/TRIO domain (45 - 181)

Spectrin

Spectrin: Spectrin repeat (312 - 414)

Spectrin

Spectrin: Spectrin repeat (540 - 640)

Spectrin

Spectrin: Spectrin repeat (891 - 998)

Spectrin

Spectrin: Spectrin repeat (1132 - 1226)

RhoGEF

RhoGEF: RhoGEF domain (1285 - 1455)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1663 a.a.
蛋白主名 其他名称

kalirin

huntingtin-associated protein interacting protein (duo)

KALRN 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
种属间
KALRN O60229 P0DTD1-PRO_0000449631 SARS-CoV-2 P0DTD1-PRO_0000449631
Y2H Array
36217029
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
Coronary Heart Disease 5

Coronary Heart Disease, Susceptibility To, 5

CHDS5

Coronary Artery Disease, Early-Onset

Coronary Artery Disease Early-Onset

Early-Onset Coronary Artery Disease

Heart, Coronary, Disease, Susceptibility To, Type 5
Schizophrenia 1

SCZD1

Schizophrenia Susceptibility Locus, Chromosome 5-Related

Schizophrenia 1 With Or Without An Affective Disorder
Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
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-RS07062 KALRN Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus KALRN MGD MGI:2685385
Felis catus KALRN VGNC VGNC:102762
Bos taurus KALRN VGNC VGNC:30389
Canis familiaris KALRN VGNC VGNC:42200
Macaca mulatta KALRN VGNC VGNC:84161
Rattus norvegicus KALRN RGD RGD:621865
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z