Gene Gene information from NCBI Gene database.
Entrez ID 5954
Gene name Reticulocalbin 1
Gene symbol RCN1
Synonyms (NCBI Gene)
HEL-S-84PIG20RCALRCN
Chromosome 11
Chromosome location 11p13
Summary 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
miRNA miRNA information provided by mirtarbase database.
370
miRTarBase ID miRNA Experiments Reference
MIRT025453 hsa-miR-34a-5p Proteomics 21566225
MIRT025453 hsa-miR-34a-5p Proteomics 21566225
MIRT1298338 hsa-miR-1245 CLIP-seq
MIRT1298339 hsa-miR-1297 CLIP-seq
MIRT1298340 hsa-miR-1305 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 8416973
GO:0005515 Function Protein binding IPI 16713569, 32296183, 32814053, 36217030
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602735 9934 ENSG00000049449
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15293
Protein name Reticulocalbin-1
Protein function May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13202 EF-hand_5 208 233 EF hand Domain
PF13202 EF-hand_5 251 274 EF hand Domain
Sequence
MARGGRGRRLGLALGLLLALVLAPRVLRAKPTVRKERVVRPDSELGERPPEDNQSFQYDH
EAFLGKEDSKTFDQLTPDESKERLGKIVDRIDNDGDGFVTTEELKTWIKRVQKRYIFDNV
AKVWKDYDRDKDDKISWEEYKQATYGYYLGNPAEFHDSSDHHTFKKMLPRDERRFKAADL
NGDLTATREEFTAFLHPEEFEHMKEIVVLETLEDIDKNGDGFVDQDEYIADMFSHEENGP
EPDWVLSEREQFNEFRDLNKDGKLDKDEIRHWILPQDYDHAQAEARHLVYESDKNKDEKL
TKEEILENWNMFVGSQATNYGEDLTKNHDEL
Sequence length 331
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia Pubtator 21364908 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 27572108 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma CTD_human_DG 16316942
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell Renal cell carcinoma Pubtator 23916412 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Spindle-Cell Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Dementia Dementia BEFREE 31556943
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 28849527
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 40244296 Associate
★☆☆☆☆
Found in Text Mining only