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RCAN1 (regulator of calcineurin 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1827
Gene nameGene Name - the full gene name approved by the HGNC.
Regulator of calcineurin 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RCAN1
SynonymsGene synonyms aliases
ADAPT78, CSP1, DSC1, DSCR1, MCIP1, RCN1
ChromosomeChromosome number
21
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.12
SummarySummary of gene provided in NCBI Entrez Gene.
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 phenotyp
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005055 hsa-let-7b-5p Microarray 17699775
MIRT018955 hsa-miR-335-5p Microarray 18185580
MIRT023116 hsa-miR-124-3p Microarray 18668037
MIRT049031 hsa-miR-92a-3p CLASH 23622248
MIRT627717 hsa-miR-4668-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
STAT2 Unknown 22426484
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0005515 Function Protein binding IPI 12809556
GO:0005634 Component Nucleus IBA 21873635
GO:0005737 Component Cytoplasm IBA 21873635
GO:0008597 Function Calcium-dependent protein serine/threonine phosphatase regulator activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P53805
Protein name Calcipressin-1 (Adapt78) (Down syndrome critical region protein 1) (Myocyte-enriched calcineurin-interacting protein 1) (MCIP1) (Regulator of calcineurin 1)
Protein function Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A (PubMed:12809556). Could play a role during central nervous system development (By similarity). {ECO:0000250|UniProtKB:Q9JHG6, ECO:00002
PDB 6UUQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04847 Calcipressin
75 246
Calcipressin
Family
Sequence
Sequence length 252
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Thyroid hormone signaling pathway
Oxytocin signaling pathway
Kaposi sarcoma-associated herpesvirus infection
 
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049 15906378
Rheumatoid arthritis Rheumatoid Arthritis rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 23143596, 30423114
Unknown
Disease name Disease term dbSNP ID References
Akinetic-rigid variant of huntington disease Akinetic-Rigid Variant of Huntington Disease 19270310
Down syndrome Down Syndrome, Down Syndrome, Partial Trisomy 21 15906378
Huntington disease Huntington Disease, Huntington Disease, Late Onset, Juvenile Huntington Disease rs768047421 19270310
Liver carcinoma Liver carcinoma 28284560

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