RCAN1 - regulator of calcineurin 1 Gene

Homo sapiens

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

Gene ID: 1827 | Gene type: protein coding

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

RCAN1 Protein Structure

Calcipressin

0
100
200
252 a.a.

Protein Preferred Names

Protein Names

calcipressin-1

Down syndrome candidate region 1

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11779	RCAN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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