RCN1
gene geneOn this page
Also known as RcalPIG20FLJ37041
Summary
RCN1 (reticulocalbin 1, HGNC:9934) is a protein-coding gene on chromosome 11p13, encoding Reticulocalbin-1 (Q15293). May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.
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.
Source: NCBI Gene 5954 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 53 total
- Druggable target: yes
- MANE Select transcript:
NM_002901
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9934 |
| Approved symbol | RCN1 |
| Name | reticulocalbin 1 |
| Location | 11p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Rcal, PIG20, FLJ37041 |
| Ensembl gene | ENSG00000049449 |
| Ensembl biotype | protein_coding |
| OMIM | 602735 |
| Entrez | 5954 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000054950, ENST00000527337, ENST00000528630, ENST00000531345, ENST00000532474, ENST00000532721, ENST00000533898, ENST00000877959, ENST00000877960, ENST00000972102
RefSeq mRNA: 1 — MANE Select: NM_002901
NM_002901
CCDS: CCDS7876
Canonical transcript exons
ENST00000054950 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001211610 | 32104365 | 32105722 |
| ENSE00001370613 | 32091074 | 32091450 |
| ENSE00003815346 | 32098350 | 32098528 |
| ENSE00003817177 | 32097144 | 32097337 |
| ENSE00003820634 | 32100548 | 32100608 |
| ENSE00003824695 | 32103281 | 32103480 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 99.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 75.2247 / max 934.8261, expressed in 1808 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 113616 | 35.6192 | 1704 |
| 113617 | 12.5551 | 1578 |
| 113612 | 9.5281 | 1458 |
| 113618 | 6.5273 | 1614 |
| 113615 | 4.4929 | 1271 |
| 113613 | 2.4284 | 1146 |
| 113611 | 2.2477 | 1206 |
| 113614 | 1.0316 | 738 |
| 113619 | 0.7944 | 436 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 99.35 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.22 | gold quality |
| ventricular zone | UBERON:0003053 | 98.91 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.45 | gold quality |
| periodontal ligament | UBERON:0008266 | 98.30 | gold quality |
| endometrium | UBERON:0001295 | 98.12 | gold quality |
| seminal vesicle | UBERON:0000998 | 98.00 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 97.94 | gold quality |
| right coronary artery | UBERON:0001625 | 97.51 | gold quality |
| tibia | UBERON:0000979 | 97.29 | gold quality |
| caput epididymis | UBERON:0004358 | 97.25 | gold quality |
| left coronary artery | UBERON:0001626 | 97.20 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.15 | gold quality |
| placenta | UBERON:0001987 | 97.10 | gold quality |
| omental fat pad | UBERON:0010414 | 97.09 | gold quality |
| coronary artery | UBERON:0001621 | 97.08 | gold quality |
| peritoneum | UBERON:0002358 | 97.08 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.01 | gold quality |
| pituitary gland | UBERON:0000007 | 96.96 | gold quality |
| right ovary | UBERON:0002118 | 96.96 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.90 | gold quality |
| left ovary | UBERON:0002119 | 96.64 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.63 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.63 | gold quality |
| ovary | UBERON:0000992 | 96.56 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 96.53 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.51 | gold quality |
| ascending aorta | UBERON:0001496 | 96.50 | gold quality |
| prostate gland | UBERON:0002367 | 96.48 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.47 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-93593 | yes | 550.45 |
| E-MTAB-10287 | yes | 105.63 |
| E-MTAB-8142 | yes | 97.73 |
| E-HCAD-5 | yes | 40.36 |
| E-HCAD-10 | yes | 35.31 |
| E-GEOD-137537 | yes | 30.47 |
| E-MTAB-7316 | yes | 28.05 |
| E-CURD-112 | yes | 16.11 |
| E-HCAD-11 | yes | 8.51 |
| E-MTAB-6678 | yes | 4.12 |
| E-GEOD-81383 | no | 725.84 |
| E-MTAB-6108 | no | 419.47 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1
miRNA regulators (miRDB)
79 targeting RCN1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
Literature-anchored findings (GeneRIF, showing 17)
- RCN1 also is expressed on the cell surface of several endothelial cell lines, including human dermal microvascular endothelial cells (HDMVECs), bone marrow endothelial cells (BMEC), and transformed human bone marrow endothelial cells (TrHBMEC). (PMID:18561328)
- Data show that calumenin in the presence of calcium binds specifically to thrombospondin-1, but closely-related reticulocalbin does not form a similar complex. (PMID:18688696)
- deletion of Rcn1 directly or indirectly contributes to the eye phenotype in Pax6 contiguous gene deletions (PMID:19474196)
- Increased RCN1 is associated with systemic sclerosis and nephrogenic systemic fibrosis. (PMID:20724591)
- reticulocalbin-1 may be an important molecule in understanding lymphatic endothelial cells in tumors function and control of lymphatic metastasis. (PMID:21272564)
- a promising role of RCN1 as a possible marker in Renal cell carcinoma (PMID:23916412)
- Ca(2+) binding caused an increase in the alpha-helix content of human RCN1. On the other hand, RCN1 did not change the structure with Mg. (PMID:24451493)
- reticulocalbin-1 plays a key role in the development of doxorubicin-associated resistance (PMID:25242635)
- RCN1 expression was not statistically significantly different to healthy controls but was associated with disease activity score and could be used as a stratification biomarker for systemic sclerosis patients. (PMID:27468573)
- irradiated tumor cells were observed to significantly up-regulate the expression of calcium-binding proteins CALM1, CALU, and RCN1, suggesting important roles for these mediators in promoting tumor cell survival during hypoxia (PMID:27790916)
- RCN1 may promote cell survival and serve as a useful target for cancer therapy. (PMID:29453900)
- Our data indicate that RCN1 expression may have an vital role at promoting the occurrence of non-small cell lung cancer (PMID:30172915)
- Reticulocalbin-1 knockdown increases the sensitivity of cells to Adriamycin in nasopharyngeal carcinoma and promotes endoplasmic reticulum stress-induced cell apoptosis. (PMID:32436770)
- Salivary NUS1 and RCN1 Levels as Biomarkers for Oral Squamous Cell Carcinoma Diagnosis. (PMID:32871760)
- Downregulation of RCN1 promotes pyroptosis in acute myeloid leukemia cells. (PMID:37746742)
- RCN1 deficiency inhibits oral squamous cell carcinoma progression and THP-1 macrophage M2 polarization. (PMID:38057406)
- Downregulation of RCN1 inhibits esophageal squamous cell carcinoma progression and M2 macrophage polarization. (PMID:38713738)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rcn1 | ENSDARG00000070006 |
| mus_musculus | Rcn1 | ENSMUSG00000005973 |
| rattus_norvegicus | Rcn1 | ENSRNOG00000013452 |
| drosophila_melanogaster | scf | FBGN0025682 |
| caenorhabditis_elegans | WBGENE00019760 |
Paralogs (4): SDF4 (ENSG00000078808), RCN2 (ENSG00000117906), CALU (ENSG00000128595), RCN3 (ENSG00000142552)
Protein
Protein identifiers
Reticulocalbin-1 — Q15293 (reviewed: Q15293)
All UniProt accessions (5): E9PLM2, Q15293, H0YDA4, H0YER5, V9HW95
UniProt curated annotations — full annotation on UniProt →
Function. May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.
Subcellular location. Endoplasmic reticulum lumen.
Post-translational modifications. O-glycosylated. O-mannosylated by POMT1 and POMT2 and elongated by POMGNT1.
Miscellaneous. This protein has four functional calcium-binding sites; potential sites II and VI have lost affinity for calcium.
Similarity. Belongs to the CREC family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15293-1 | 1 | yes |
| Q15293-2 | 2 |
RefSeq proteins (1): NP_002892* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR027241 | Rcn1 | Family |
Pfam: PF13202, PF13499
UniProt features (44 total): binding site 28, domain 6, modified residue 3, sequence variant 2, signal peptide 1, chain 1, glycosylation site 1, splice variant 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15293-F1 | 76.76 | 0.47 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (28): 94; 96; 103; 128; 130; 132; 134; 139; 179; 181; 183; 185 …
Post-translational modifications (3): 55, 76, 80
Glycosylation sites (1): 53
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-8957275 | Post-translational protein phosphorylation |
MSigDB gene sets: 302 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, AAGCAAT_MIR137, YAATNRNNNYNATT_UNKNOWN, SOX9_B1, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, FOSTER_TOLERANT_MACROPHAGE_UP, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, COATES_MACROPHAGE_M1_VS_M2_UP, SCHLOSSER_MYC_TARGETS_AND_SERUM_RESPONSE_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, NEMETH_INFLAMMATORY_RESPONSE_LPS_UP, PETROVA_ENDOTHELIUM_LYMPHATIC_VS_BLOOD_DN, BRUNO_HEMATOPOIESIS, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP
GO Biological Process (2): in utero embryonic development (GO:0001701), camera-type eye development (GO:0043010)
GO Molecular Function (3): calcium ion binding (GO:0005509), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| chordate embryonic development | 1 |
| eye development | 1 |
| metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
868 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RCN1 | KDELR1 | P24390 | 840 |
| RCN1 | PPP3CA | Q08209 | 588 |
| RCN1 | WT1 | P19544 | 550 |
| RCN1 | FBXW7 | Q969H0 | 545 |
| RCN1 | PAX6 | P26367 | 541 |
| RCN1 | PDIA3 | P30101 | 516 |
| RCN1 | ERP29 | P30040 | 512 |
| RCN1 | ERP44 | Q9BS26 | 489 |
| RCN1 | PDIA4 | P13667 | 469 |
| RCN1 | RIT2 | Q99578 | 468 |
| RCN1 | SEC63 | Q9UGP8 | 462 |
| RCN1 | GOLIM4 | O00461 | 461 |
| RCN1 | MST1R | Q04912 | 449 |
| RCN1 | HYOU1 | Q9Y4L1 | 424 |
| RCN1 | RGN | Q15493 | 415 |
IntAct
344 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NRBP1 | TSC22D2 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | XPO1 | psi-mi:“MI:0914”(association) | 0.710 |
| ATXN1 | RCN1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DCAF11 | RCN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GET3 | RCN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SUOX | RCN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTPBP3 | RCN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO4 | RCN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYO15B | RCN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CETN3 | RCN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RCN1 | DCAF11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RCN1 | GTPBP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RCN1 | ZNF410 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (359): RCN1 (Affinity Capture-MS), RCN1 (Affinity Capture-RNA), RCN1 (Affinity Capture-RNA), RCN1 (Affinity Capture-MS), RCN1 (Affinity Capture-MS), RCN1 (Affinity Capture-MS), RCN1 (Affinity Capture-MS), RCN1 (Affinity Capture-MS), RCN1 (Affinity Capture-MS), RCN1 (Affinity Capture-MS), RCN1 (Affinity Capture-MS), RCN1 (Affinity Capture-MS), RCN1 (Affinity Capture-MS), SPECC1L (Affinity Capture-MS), MYO18A (Affinity Capture-MS)
ESM2 similar proteins: A0A6I8RMG7, A0AVX7, A2VEI2, A4IG32, A5D7A0, B5X186, B5X4E0, I6L9G5, J3S9D9, O35783, O35887, O93390, O93434, P07214, P09486, P13213, P16975, P20112, P22676, P36377, P36378, P41044, P49257, P61022, P61023, P79881, Q05186, Q14257, Q15293, Q28BT4, Q2KJ39, Q3T0K1, Q4U471, Q5R767, Q5R7F0, Q5ZM44, Q62703, Q62902, Q6IP82, Q6IQP3
Diamond homologs: B5X186, B5X4E0, I6L9G5, J3S9D9, O35783, O35887, O43852, O93434, P02597, P04464, Q05186, Q14257, Q15293, Q28BT4, Q2KJ39, Q3T0K1, Q4U471, Q5RDD8, Q62703, Q66JA6, Q6IP82, Q6IQP3, Q6XLQ7, Q7SXV9, Q8BH97, Q8BP92, Q96D15, Q9FKW4, P42529, Q5ZKE5, Q03975, Q9M7R0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
838 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:32091440:G:GT | donor_gain | 1.0000 |
| 11:32091441:A:T | donor_gain | 1.0000 |
| 11:32091445:GC:G | donor_gain | 1.0000 |
| 11:32097283:G:GT | donor_gain | 1.0000 |
| 11:32097301:G:GT | donor_gain | 1.0000 |
| 11:32097301:G:T | donor_gain | 1.0000 |
| 11:32097336:AGGTA:A | donor_loss | 1.0000 |
| 11:32098515:A:T | donor_gain | 1.0000 |
| 11:32098534:A:G | donor_gain | 1.0000 |
| 11:32100604:TATTG:T | donor_gain | 1.0000 |
| 11:32100606:TTGGT:T | donor_loss | 1.0000 |
| 11:32100607:TGGTG:T | donor_loss | 1.0000 |
| 11:32100608:GGT:G | donor_loss | 1.0000 |
| 11:32100609:G:GG | donor_gain | 1.0000 |
| 11:32100609:GTGA:G | donor_loss | 1.0000 |
| 11:32100610:TGA:T | donor_loss | 1.0000 |
| 11:32100611:G:GT | donor_loss | 1.0000 |
| 11:32103279:A:AG | acceptor_gain | 1.0000 |
| 11:32103279:AGC:A | acceptor_gain | 1.0000 |
| 11:32103279:AGCG:A | acceptor_gain | 1.0000 |
| 11:32103280:G:GT | acceptor_gain | 1.0000 |
| 11:32103280:GC:G | acceptor_gain | 1.0000 |
| 11:32103280:GCG:G | acceptor_gain | 1.0000 |
| 11:32103280:GCGG:G | acceptor_gain | 1.0000 |
| 11:32103280:GCGGA:G | acceptor_gain | 1.0000 |
| 11:32103439:GC:G | donor_gain | 1.0000 |
| 11:32103479:AGGT:A | donor_loss | 1.0000 |
| 11:32103480:GG:G | donor_loss | 1.0000 |
| 11:32103481:GT:G | donor_loss | 1.0000 |
| 11:32103482:T:A | donor_loss | 1.0000 |
AlphaMissense
2209 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:32091447:T:C | L84P | 1.000 |
| 11:32097200:T:C | L104P | 1.000 |
| 11:32097300:G:C | W137C | 1.000 |
| 11:32097300:G:T | W137C | 1.000 |
| 11:32098422:G:C | R174T | 1.000 |
| 11:32098485:T:C | L195P | 1.000 |
| 11:32098487:C:G | H196D | 1.000 |
| 11:32100602:T:C | Y228H | 1.000 |
| 11:32100603:A:G | Y228C | 1.000 |
| 11:32103322:T:A | W244R | 1.000 |
| 11:32103322:T:C | W244R | 1.000 |
| 11:32103324:G:C | W244C | 1.000 |
| 11:32103324:G:T | W244C | 1.000 |
| 11:32103338:G:C | R249P | 1.000 |
| 11:32103406:T:A | W272R | 1.000 |
| 11:32103406:T:C | W272R | 1.000 |
| 11:32103408:G:C | W272C | 1.000 |
| 11:32103408:G:T | W272C | 1.000 |
| 11:32103444:G:C | E284D | 1.000 |
| 11:32103444:G:T | E284D | 1.000 |
| 11:32103445:G:C | A285P | 1.000 |
| 11:32103451:C:A | H287N | 1.000 |
| 11:32103451:C:G | H287D | 1.000 |
| 11:32103453:T:A | H287Q | 1.000 |
| 11:32103453:T:G | H287Q | 1.000 |
| 11:32103455:T:A | L288Q | 1.000 |
| 11:32103455:T:C | L288P | 1.000 |
| 11:32104375:T:C | L300P | 1.000 |
| 11:32104390:T:A | I305K | 1.000 |
| 11:32104410:T:C | F312L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000528504 (11:32097903 G>A), RS1000570390 (11:32105654 C>T), RS1000622550 (11:32104218 T>C), RS1001045520 (11:32091324 C>G,T), RS1001115492 (11:32101187 A>G), RS1001680501 (11:32096654 C>A,T), RS1001792618 (11:32103225 G>A,C,T), RS1001891796 (11:32105426 C>T), RS1002010288 (11:32093790 A>G), RS1002154523 (11:32106151 A>G), RS1002291011 (11:32091793 A>C), RS1002343684 (11:32094089 C>T), RS1002461331 (11:32090071 G>C,T), RS1002544883 (11:32104167 C>T), RS1002758379 (11:32091570 A>C,G)
Disease associations
OMIM: gene MIM:602735 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001818_4 | Metabolite levels (HVA/5-HIAA ratio) | 4.000000e-06 |
| GCST004245_1 | Body mass index | 2.000000e-06 |
| GCST006041_27 | Major depressive disorder | 4.000000e-07 |
| GCST006585_855 | Blood protein levels | 2.000000e-06 |
| GCST007709_283 | General factor of neuroticism | 9.000000e-09 |
| GCST010002_234 | Refractive error | 2.000000e-49 |
| GCST010243_67 | Apolipoprotein B levels | 4.000000e-08 |
| GCST90002379_88 | Basophil count | 2.000000e-10 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005131 | HVA measurement |
| EFO:0005132 | 5-HIAA measurement |
| EFO:0004340 | body mass index |
| EFO:0007660 | neuroticism measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0005090 | basophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066498 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.67 | Kd | 215.3 | nM | CHEMBL3752910 |
| 6.67 | ED50 | 215.3 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149924: Binding affinity to human RCN1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.2153 | uM |
CTD chemical–gene interactions
57 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation, increases expression | 4 |
| sodium arsenite | decreases expression, increases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Tobacco Smoke Pollution | increases expression, affects expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | decreases expression, affects cotreatment | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| bisphenol B | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| hexabrominated diphenyl ether 153 | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652966 | Binding | Binding affinity to human RCN1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3FV | Abcam HEK293T RCN1 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.