RCAN1 - regulator of calcineurin 1 Gene

中文名称：神经钙蛋白 1 的调节因子

种属: Homo sapiens

同用名: CSP1; DSC1; RCN1; DSCR1; MCIP1; ADAPT78

基因 ID: 1827 | 基因类型: protein coding

关于 RCAN1

Cytogenetic location: 21q22.12 Genomic coordinates (GRCh38): 21:34,516,442-34,615,113 (from NCBI)

This gene has 14 transcripts (splice variants), 218 orthologues and 2 paralogues. Broad expression in liver (RPKM 56.9), placenta (RPKM 30.5) and 22 other tissues.

功能概要

该基因编码的蛋白质与神经钙蛋白 A 相互作用并抑制神经钙蛋白依赖性信号通路，可能影响中枢神经系统发育。该基因位于唐氏综合症表型的最小候选区域，并在唐氏综合症胎儿的大脑中过度表达。该基因的慢性过度表达可能导致神经原纤维缠结，例如与阿尔茨海默病相关的缠结。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 11 月]

The protein encoded by this gene interacts with Calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

RCAN1 基因产物(8)

mRNA	Protein	Name
NM_001285389.2	NP_001272318.1	calcipressin-1 isoform d
NM_001285391.2	NP_001272320.2	calcipressin-1 isoform e
NM_001285392.2	NP_001272321.1	calcipressin-1 isoform b
NM_001285393.2	NP_001272322.1	calcipressin-1 isoform b
NM_001331016.2	NP_001317945.1	calcipressin-1 isoform f
NM_004414.7	NP_004405.3	calcipressin-1 isoform a
NM_203417.2	NP_981962.1	calcipressin-1 isoform b
NM_203418.3	NP_981963.1	calcipressin-1 isoform c

基因本体论

分子功能
生物过程

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	24021800	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12809556	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of calcineurin-NFAT signaling cascade	IMP IMP: 通过突变表型推断	12809556	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

RCAN1 蛋白结构

Calcipressin

0
100
200
252 a.a.

蛋白主名

其他名称

calcipressin-1

Down syndrome candidate region 1

RCAN1 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	RCAN1	P53805	PPP3CB	Homo sapiens	P16298	Y2H Fragment Pooling	35914814
种属内	RCAN1	P53805	PPP3CB	Homo sapiens	P16298	Anti Tag CoIP	33961781
种属内	RCAN1	P53805	PPP3R1	Homo sapiens	P63098	Y2H Fragment Pooling	35914814
种属内	RCAN1	P53805	PPP3R1	Homo sapiens	P63098	Anti Tag CoIP	33961781

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

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Ulcer Of Lower Limbs

Ulcer Of Ankle	Ulcer Of Calf
Ulcer Of Heel And Midfoot	Ulcer Of Thigh
Ulcer Of Lower Limb

Chromosomal Duplication Syndrome

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2

PEOA2	Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 2
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2	Chronic Progressive External Ophthalmoplegia
Progressive External Ophthalmoplegia, Autosomal Dominant 2	Autosomal Dominant Progressive External Ophthalmoplegia 2
Cpeo	Graefe Disease
Mitochondrial Ocular Myopathy	Ocular Myopathy Of Von Graefe-Fuchs
Progressive External Ophthalmoplegia Autosomal Dominant 2	Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 2
Kearns-Sayre Syndrome

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

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

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11779	RCAN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21728	Rcan1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	RCAN1	VGNC	VGNC:76874
Bos taurus	RCAN1	VGNC	VGNC:33820
Mus musculus	RCAN1	MGD	MGI:1890564
Felis catus	RCAN1	VGNC	VGNC:102812
Rattus norvegicus	RCAN1	RGD	RGD:631338
Canis familiaris	RCAN1	VGNC	VGNC:45436

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

RCAN1 - regulator of calcineurin 1 Gene

关于 RCAN1

功能概要

RCAN1 基因产物(8)

RCAN1 蛋白结构

RCAN1 蛋白互作信息

关联疾病

直系同源

热门区域

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RCAN1 - regulator of calcineurin 1 Gene

关于 RCAN1

功能概要

RCAN1 基因产物(8)

RCAN1 蛋白结构

RCAN1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z