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RCAN1 - regulator of calcineurin 1 Gene

Also Known as CSP1; DSC1; RCN1; DSCR1; MCIP1; ADAPT78

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 1827

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables identical protein binding	IPI IPI: Inferred from physical interaction	24021800	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12809556	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in negative regulation of calcineurin-NFAT signaling cascade	IMP IMP: Inferred from mutant phenotype	12809556	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RCAN1 Protein Structure

Calcipressin

0
100
200
252 a.a.

Protein Preferred Names	Protein Names
calcipressin-1	Down syndrome candidate region 1

RCAN1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	RCAN1	P53805	PPP3CB	Homo sapiens	P16298	Y2H Fragment Pooling	35914814
Intra	RCAN1	P53805	PPP3CB	Homo sapiens	P16298	Anti Tag CoIP	33961781
Intra	RCAN1	P53805	PPP3R1	Homo sapiens	P63098	Y2H Fragment Pooling	35914814
Intra	RCAN1	P53805	PPP3R1	Homo sapiens	P63098	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

RCAN1 抗体

製品番号	製品名	アプリケーション	反応性
HY-P810868	Calcipressin 1 Antibody	WB, IHC-P	Human, Mouse, Rat

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS11779	RCAN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21728	Rcan1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28245	Rcan1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	RCAN1	NCBI