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Aliases for RCN1 Gene

Aliases for RCN1 Gene

  • Reticulocalbin 1 2 3 5
  • Reticulocalbin 1, EF-Hand Calcium Binding Domain 2 3
  • Proliferation-Inducing Gene 20 2 3
  • RCN 3 4
  • Epididymis Secretory Protein Li 84 3
  • Reticulocalbin-1 3
  • HEL-S-84 3
  • PIG20 3
  • RCAL 3

External Ids for RCN1 Gene

Previous HGNC Symbols for RCN1 Gene

  • RCN

Previous GeneCards Identifiers for RCN1 Gene

  • GC13M043963
  • GC11P032887
  • GC11P032151
  • GC11P032077
  • GC11P032076
  • GC11P032069
  • GC11P032112
  • GC11P031815

Summaries for RCN1 Gene

Entrez Gene Summary for RCN1 Gene

  • Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]

GeneCards Summary for RCN1 Gene

RCN1 (Reticulocalbin 1) is a Protein Coding gene. Diseases associated with RCN1 include Nephrogenic Systemic Fibrosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is ENSG00000285283.

UniProtKB/Swiss-Prot for RCN1 Gene

  • May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.

Gene Wiki entry for RCN1 Gene

Additional gene information for RCN1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RCN1 Gene

Genomics for RCN1 Gene

GeneHancer (GH) Regulatory Elements for RCN1 Gene

Promoters and enhancers for RCN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J032090 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 669.2 +0.6 621 2.9 PKNOX1 SIN3A DMAP1 GLI4 ZNF2 ZNF48 GTF3C2 GLIS2 ZNF213 ZNF143 RCN1 EIF3M QSER1 ENSG00000255252 ENSG00000285283
GH11J032103 Promoter 1.1 EPDnew 650.4 +12.5 12454 0.1 ELF3 FOXA2 MLX MAX ERF YY1 GATA3 ZNF614 GATAD1 IKZF5 ENSG00000255252 RCN1 LOC101928385 LOC100506675 ENSG00000285283
GH11J032098 Promoter 0.5 EPDnew 650.4 +7.5 7544 0.1 RCN1 LOC101928385 LOC100506675 ENSG00000255252 ENSG00000285283
GH11J032087 Enhancer 1.3 FANTOM5 Ensembl ENCODE 17.1 -2.7 -2673 2.3 PKNOX1 SMAD1 NFIB FEZF1 ZNF2 RFX5 ZNF335 ZNF366 RCOR1 FOS RCN1 QSER1 EIF4A2P5 ENSG00000285283
GH11J032136 Enhancer 1 Ensembl ENCODE 22.2 +46.4 46446 2 IRF4 BRCA1 RFX5 ZEB1 ZNF335 SCRT2 RCOR1 ATF7 FOS IKZF2 RCN1 EIF4A2P5 ENSG00000212551 LOC101928385 LOC100506675 ENSG00000255375 GC11M032121 THEM7P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RCN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RCN1 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • STAT5B
  • IRF-2
  • CUTL1
  • STAT5A
  • HOXA3
  • Hlf

Genomic Locations for RCN1 Gene

Genomic Locations for RCN1 Gene
chr11:32,090,904-32,105,755
(GRCh38/hg38)
Size:
14,852 bases
Orientation:
Plus strand
chr11:31,833,939-32,127,301
(GRCh37/hg19)
Size:
293,363 bases
Orientation:
Plus strand

Genomic View for RCN1 Gene

Genes around RCN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCN1 Gene

Proteins for RCN1 Gene

  • Protein details for RCN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15293-RCN1_HUMAN
    Recommended name:
    Reticulocalbin-1
    Protein Accession:
    Q15293
    Secondary Accessions:
    • B7Z1M1
    • D3DR00
    • B7Z1M1
    • D3DR00

    Protein attributes for RCN1 Gene

    Size:
    331 amino acids
    Molecular mass:
    38890 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • This protein has four functional calcium-binding sites; potential sites II and VI have lost affinity for calcium.
    • This protein has four functional calcium-binding sites; potential sites II and VI have lost affinity for calcium.

    Alternative splice isoforms for RCN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RCN1 Gene

Post-translational modifications for RCN1 Gene

  • Glycosylation at Asn53
  • Ubiquitination at Lys176, Lys141, posLast=122122, posLast=105105, and posLast=7070
  • Modification sites at PhosphoSitePlus

Other Protein References for RCN1 Gene

No data available for DME Specific Peptides for RCN1 Gene

Domains & Families for RCN1 Gene

Gene Families for RCN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for RCN1 Gene

Suggested Antigen Peptide Sequences for RCN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15293

UniProtKB/Swiss-Prot:

RCN1_HUMAN :
  • Belongs to the CREC family.
Family:
  • Belongs to the CREC family.
genes like me logo Genes that share domains with RCN1: view

Function for RCN1 Gene

Molecular function for RCN1 Gene

UniProtKB/Swiss-Prot Function:
May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.
GENATLAS Biochemistry:
reticulocalbin,Ca++ binding protein of the endoplasmic reticulum,involved in protein processing,deleted in WAGR syndrome

Phenotypes From GWAS Catalog for RCN1 Gene

Gene Ontology (GO) - Molecular Function for RCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 16713569
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RCN1: view
genes like me logo Genes that share phenotypes with RCN1: view

Animal Model Products

miRNA for RCN1 Gene

miRTarBase miRNAs that target RCN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RCN1 Gene

Localization for RCN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RCN1 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RCN1 gene
Compartment Confidence
endoplasmic reticulum 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with RCN1: view

Pathways & Interactions for RCN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with RCN1: view

No data available for Pathways by source and SIGNOR curated interactions for RCN1 Gene

Drugs & Compounds for RCN1 Gene

(1) Drugs for RCN1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with RCN1: view

Transcripts for RCN1 Gene

mRNA/cDNA for RCN1 Gene

Unigene Clusters for RCN1 Gene

Reticulocalbin 1, EF-hand calcium binding domain:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RCN1 Gene

No ASD Table

Relevant External Links for RCN1 Gene

GeneLoc Exon Structure for
RCN1
ECgene alternative splicing isoforms for
RCN1

Expression for RCN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RCN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RCN1 Gene

This gene is overexpressed in Testis (11.5), Bone marrow stromal cell (11.2), and Oral epithelium (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RCN1 Gene



Protein tissue co-expression partners for RCN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RCN1 Gene:

RCN1

SOURCE GeneReport for Unigene cluster for RCN1 Gene:

Hs.97887

Evidence on tissue expression from TISSUES for RCN1 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Skin(3)
  • Lung(2.9)
  • Intestine(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with RCN1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RCN1 Gene

Orthologs for RCN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RCN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RCN1 34 33
  • 97.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RCN1 34 33
  • 91.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RCN1 34 33
  • 90.94 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rcn1 33
  • 89.11 (n)
mouse
(Mus musculus)
Mammalia Rcn1 16 34 33
  • 89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RCN1 34
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RCN1 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RCN1 34 33
  • 77.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RCN1 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rcn1 33
  • 74.28 (n)
MGC76276 33
zebrafish
(Danio rerio)
Actinopterygii rcn1 34 33
  • 73.88 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10291 33
fruit fly
(Drosophila melanogaster)
Insecta scf 34 35
  • 44 (a)
OneToMany
CG9112 35
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea M03F4.7 35
  • 47 (a)
calu-1 34
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 55 (a)
ManyToMany
-- 34
  • 46 (a)
ManyToMany
CSA.6945 34
  • 42 (a)
ManyToMany
Species where no ortholog for RCN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RCN1 Gene

ENSEMBL:
Gene Tree for RCN1 (if available)
TreeFam:
Gene Tree for RCN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RCN1: view image

Paralogs for RCN1 Gene

Paralogs for RCN1 Gene

(3) SIMAP similar genes for RCN1 Gene using alignment to 6 proteins:

  • RCN1_HUMAN
  • B7Z1M1_HUMAN
  • E9PLM2_HUMAN
  • E9PP27_HUMAN
  • H0YDA4_HUMAN
  • H0YER5_HUMAN

Pseudogenes.org Pseudogenes for RCN1 Gene

genes like me logo Genes that share paralogs with RCN1: view

Variants for RCN1 Gene

Sequence variations from dbSNP and Humsavar for RCN1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
VAR_035460 A colorectal cancer sample p.Phe117Leu
rs1000528504 -- 32,097,903(+) G/A intron_variant
rs1000570390 -- 32,105,654(+) C/T 3_prime_UTR_variant
rs1000622550 -- 32,104,218(+) T/C intron_variant
rs1001045520 -- 32,091,324(+) C/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for RCN1 Gene

Variant ID Type Subtype PubMed ID
nsv39810 CNV deletion 16902084
nsv832107 CNV gain 17160897

Variation tolerance for RCN1 Gene

Residual Variation Intolerance Score: 84.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RCN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCN1 Gene

Disorders for RCN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RCN1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
nephrogenic systemic fibrosis
  • nephrogenic fibrosing dermopathy
- elite association - COSMIC cancer census association via MalaCards
Search RCN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RCN1

genes like me logo Genes that share disorders with RCN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RCN1 Gene

Publications for RCN1 Gene

  1. Cloning of a human homologue of mouse reticulocalbin reveals conservation of structural domains in the novel endoplasmic reticulum resident Ca(2+)-binding protein with multiple EF-hand motifs. (PMID: 8586628) Ozawa M (Journal of biochemistry 1995) 2 3 4 58
  2. Novel surface expression of reticulocalbin 1 on bone endothelial cells and human prostate cancer cells is regulated by TNF-alpha. (PMID: 18561328) Cooper CR … Pienta KJ (Journal of cellular biochemistry 2008) 3 22 58
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RCN1 Gene

Sources for RCN1 Gene

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