RSU1
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Also known as RSP-1FLJ31034
Summary
RSU1 (Ras suppressor protein 1, HGNC:10464) is a protein-coding gene on chromosome 10p13, encoding Ras suppressor protein 1 (Q15404). Potentially plays a role in the Ras signal transduction pathway.
This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors.
Source: NCBI Gene 6251 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 59 total
- Druggable target: yes
- MANE Select transcript:
NM_012425
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10464 |
| Approved symbol | RSU1 |
| Name | Ras suppressor protein 1 |
| Location | 10p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RSP-1, FLJ31034 |
| Ensembl gene | ENSG00000148484 |
| Ensembl biotype | protein_coding |
| OMIM | 179555 |
| Entrez | 6251 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000345264, ENST00000377911, ENST00000377921, ENST00000464074, ENST00000602389, ENST00000905311, ENST00000905313, ENST00000905315, ENST00000949333, ENST00000949334
RefSeq mRNA: 2 — MANE Select: NM_012425
NM_012425, NM_152724
CCDS: CCDS31157, CCDS7112
Canonical transcript exons
ENST00000345264 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001475576 | 16590611 | 16593496 |
| ENSE00001958674 | 16817315 | 16817424 |
| ENSE00002280374 | 16816973 | 16817084 |
| ENSE00003518722 | 16754871 | 16754989 |
| ENSE00003527614 | 16752539 | 16752653 |
| ENSE00003527644 | 16752918 | 16753000 |
| ENSE00003581063 | 16782034 | 16782084 |
| ENSE00003682063 | 16695023 | 16695155 |
| ENSE00003684779 | 16764390 | 16764510 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 97.84.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 73.2903 / max 757.6939, expressed in 1824 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 108460 | 68.0740 | 1821 |
| 108461 | 5.1614 | 1693 |
| 108462 | 0.0549 | 22 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| popliteal artery | UBERON:0002250 | 97.84 | gold quality |
| tibial artery | UBERON:0007610 | 97.84 | gold quality |
| right coronary artery | UBERON:0001625 | 97.77 | gold quality |
| aorta | UBERON:0000947 | 97.58 | gold quality |
| left coronary artery | UBERON:0001626 | 97.40 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.40 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.27 | gold quality |
| ascending aorta | UBERON:0001496 | 97.22 | gold quality |
| coronary artery | UBERON:0001621 | 97.21 | gold quality |
| blood vessel layer | UBERON:0004797 | 97.13 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.93 | gold quality |
| monocyte | CL:0000576 | 96.89 | gold quality |
| mononuclear cell | CL:0000842 | 96.75 | gold quality |
| leukocyte | CL:0000738 | 96.50 | gold quality |
| saphenous vein | UBERON:0007318 | 96.33 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.95 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 95.71 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.63 | gold quality |
| rectum | UBERON:0001052 | 95.61 | gold quality |
| adipose tissue | UBERON:0001013 | 95.42 | gold quality |
| connective tissue | UBERON:0002384 | 95.22 | gold quality |
| body of uterus | UBERON:0009853 | 95.20 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.12 | gold quality |
| lower esophagus | UBERON:0013473 | 95.09 | gold quality |
| peritoneum | UBERON:0002358 | 95.02 | gold quality |
| omental fat pad | UBERON:0010414 | 95.02 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 95.00 | gold quality |
| urethra | UBERON:0000057 | 94.99 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.90 | gold quality |
| myometrium | UBERON:0001296 | 94.78 | gold quality |
Single-cell (SCXA)
Detected in 13 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75367 | yes | 2150.25 |
| E-HCAD-4 | yes | 37.48 |
| E-CURD-112 | yes | 35.83 |
| E-HCAD-6 | yes | 22.93 |
| E-CURD-122 | yes | 20.78 |
| E-HCAD-10 | yes | 16.65 |
| E-MTAB-9067 | yes | 12.85 |
| E-GEOD-83139 | yes | 7.25 |
| E-HCAD-1 | yes | 5.27 |
| E-CURD-10 | no | 857.99 |
| E-MTAB-7037 | no | 399.80 |
| E-MTAB-6678 | no | 3.32 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): PITX2
miRNA regulators (miRDB)
113 targeting RSU1, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
Literature-anchored findings (GeneRIF, showing 20)
- alternative splicing of exon 8 of the RSU-1 RNA to produce the exon-deleted form constitutes a mechanism for reduction or loss of functional Rsu-1. The exon-deleted form was not found in normal tissue. (PMID:12510772)
- Rsu-1 links the Ras pathway with the IPP (integrin-linked kinase {ILK}, PINCH-1/LIMS1, parvin) complex and the perturbations of cell attachment-dependent signaling that occur in the malignant process (PMID:18436335)
- Rsu1 is required for EGF-induced activation of the p38 map kinase signaling (PMID:25482629)
- Upregulation of RSU1 is associated with metastatic breast cancer. (PMID:25647720)
- results showed that RSU-1 expression is elevated in HepG2 cells both at the mRNA and protein level (PMID:25750304)
- integrin/Rsu1/Rac1/actin signaling has a conserved role in modulating reward-related phenotypes, including ethanol consumption, across phyla (PMID:26170296)
- our results indicate the important role of RSU-1 in BC metastasis and set the foundations for its validation as potential BC metastasis marker. (PMID:28423706)
- Ras suppressor protein 1 was confirmed to be directly targeted by miR-409-5p in breast cancer cells. Small interfering RNA-mediated Ras suppressor protein 1 inhibition reversely promoted cancer proliferation and migration in miR-409-5p-downregualted breast cancer cells. MiR-409-5p is downregulated in breast cancer and its inhibition has anti-cancer effect on breast cancer development both in vitro and in vivo. (PMID:28459205)
- This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes. (PMID:30621163)
- Ras suppressor-1 (RSU-1) promotes cell invasion in aggressive glioma cells and inhibits it in non-aggressive cells through STAT6 phospho-regulation. (PMID:31123330)
- Depletion of Ras Suppressor-1 (RSU-1) promotes cell invasion of breast cancer cells through a compensatory upregulation of a truncated isoform. (PMID:31296919)
- Integrin-linked kinase (ILK) regulates KRAS, IPP complex and Ras suppressor-1 (RSU1) promoting lung adenocarcinoma progression and poor survival. (PMID:32592097)
- MicroRNA-Dependent Targeting of RSU1 and the IPP Adhesion Complex Regulates the PTEN/PI3K/AKT Signaling Pathway in Breast Cancer Cell Lines. (PMID:32751711)
- Complex structures of Rsu1 and PINCH1 reveal a regulatory mechanism of the ILK/PINCH/Parvin complex for F-actin dynamics. (PMID:33587032)
- RSU-1 interaction with prohibitin-2 links cell-extracellular matrix detachment to downregulation of ERK signaling. (PMID:33853759)
- Molecular basis for Ras suppressor-1 binding to PINCH-1 in focal adhesion assembly. (PMID:33891945)
- Focal adhesion proteins in hepatocellular carcinoma: RSU1 a novel tumour suppressor with prognostic significance. (PMID:35642986)
- Ras suppressor-1 (RSU1) exerts a tumor suppressive role with prognostic significance in lung adenocarcinoma. (PMID:35729367)
- Ras suppressor 1 long form (RSU1L) silencing promotes apoptosis in invasive breast cancer cells. (PMID:36375714)
- CircRSU1 alleviates LPS-induced human pulmonary microvascular endothelial cell injury by targeting miR-1224-5p/ITGA5 axis. (PMID:38312030)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rsu1 | ENSDARG00000102885 |
| mus_musculus | Rsu1 | ENSMUSG00000026727 |
| rattus_norvegicus | Rsu1 | ENSRNOG00000017595 |
| drosophila_melanogaster | ics | FBGN0028546 |
| caenorhabditis_elegans | WBGENE00007924 |
Protein
Protein identifiers
Ras suppressor protein 1 — Q15404 (reviewed: Q15404)
All UniProt accessions (1): Q15404
UniProt curated annotations — full annotation on UniProt →
Function. Potentially plays a role in the Ras signal transduction pathway. Capable of suppressing v-Ras transformation in vitro.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15404-1 | 1 | yes |
| Q15404-2 | 2 |
RefSeq proteins (2): NP_036557, NP_689937 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR050216 | LRR_domain-containing | Family |
| IPR055414 | LRR_R13L4/SHOC2-like | Domain |
Pfam: PF13855, PF23598
UniProt features (39 total): helix 14, strand 10, repeat 7, region of interest 2, compositionally biased region 2, initiator methionine 1, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7D2S | X-RAY DIFFRACTION | 1.65 |
| 7LT8 | X-RAY DIFFRACTION | 1.76 |
| 7D2T | X-RAY DIFFRACTION | 2.2 |
| 7LT9 | X-RAY DIFFRACTION | 3.05 |
| 7D2U | X-RAY DIFFRACTION | 3.15 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15404-F1 | 94.98 | 0.93 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-446388 | Regulation of cytoskeletal remodeling and cell spreading by IPP complex components |
| R-HSA-1500931 | Cell-Cell communication |
| R-HSA-446353 | Cell-extracellular matrix interactions |
| R-HSA-446728 | Cell junction organization |
MSigDB gene sets: 199 (showing top):
YANG_BREAST_CANCER_ESR1_LASER_DN, SRF_Q5_01, chr10p13, SRF_C, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_RAS_PROTEIN_SIGNAL_TRANSDUCTION, SCHLOSSER_SERUM_RESPONSE_DN, APPIERTO_RESPONSE_TO_FENRETINIDE_DN, SESTO_RESPONSE_TO_UV_C7, VANTVEER_BREAST_CANCER_ESR1_DN, ATGTCAC_MIR489, GOBP_CELL_SUBSTRATE_ADHESION, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_CELL_MATRIX_ADHESION, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR
GO Biological Process (5): cell-matrix adhesion (GO:0007160), signal transduction (GO:0007165), Ras protein signal transduction (GO:0007265), positive regulation of cell-substrate adhesion (GO:0010811), positive regulation of GTPase activity (GO:0043547)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): cytosol (GO:0005829), focal adhesion (GO:0005925), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Cell-extracellular matrix interactions | 1 |
| Cell junction organization | 1 |
| Cell-Cell communication | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell-substrate adhesion | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| small GTPase-mediated signal transduction | 1 |
| regulation of cell-substrate adhesion | 1 |
| positive regulation of cell adhesion | 1 |
| GTPase activity | 1 |
| regulation of GTPase activity | 1 |
| positive regulation of hydrolase activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| cell-substrate junction | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1200 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RSU1 | LIMS1 | P48059 | 971 |
| RSU1 | PARVA | Q9NVD7 | 928 |
| RSU1 | ILK | P57043 | 896 |
| RSU1 | PARVB | Q9HBI1 | 881 |
| RSU1 | PARVG | Q9HBI0 | 866 |
| RSU1 | RSPH6A | Q9H0K4 | 757 |
| RSU1 | RSPH3 | Q86UC2 | 713 |
| RSU1 | LIMS2 | Q7Z4I7 | 608 |
| RSU1 | PXN | P49023 | 600 |
| RSU1 | TLN1 | Q9Y490 | 592 |
| RSU1 | VCL | P18206 | 586 |
| RSU1 | TLN2 | Q9Y4G6 | 571 |
| RSU1 | FLNB | O75369 | 522 |
| RSU1 | FLNA | P21333 | 518 |
| RSU1 | FLNC | Q14315 | 503 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ILK | LIMS1 | psi-mi:“MI:0914”(association) | 0.960 |
| LIMS1 | ILK | psi-mi:“MI:0914”(association) | 0.960 |
| RSU1 | LIMS1 | psi-mi:“MI:0915”(physical association) | 0.850 |
| LIMS1 | RSU1 | psi-mi:“MI:0915”(physical association) | 0.850 |
| RSU1 | LIMS1 | psi-mi:“MI:0914”(association) | 0.850 |
| PARVG | LIMS1 | psi-mi:“MI:0914”(association) | 0.640 |
| ILK | HAX1 | psi-mi:“MI:0914”(association) | 0.530 |
| ILK | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| RSU1 | GSK3B | psi-mi:“MI:0915”(physical association) | 0.370 |
| RSU1 | GCNT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ILK | ELOC | psi-mi:“MI:0914”(association) | 0.350 |
| VWA8 | psi-mi:“MI:0914”(association) | 0.350 | |
| PSKH1 | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| MAPK3 | HMMR | psi-mi:“MI:0914”(association) | 0.350 |
| SPDYE4 | RPS10-NUDT3 | psi-mi:“MI:0914”(association) | 0.350 |
| SDCBP | psi-mi:“MI:0914”(association) | 0.350 | |
| PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 | |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| FKBP5 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| RSU1 | ICAM2 | psi-mi:“MI:0914”(association) | 0.350 |
| PARVG | MTX2 | psi-mi:“MI:0914”(association) | 0.350 |
| ILK | PGAM2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (103): RSU1 (Two-hybrid), RSU1 (Affinity Capture-MS), PARVA (Affinity Capture-MS), PARVB (Affinity Capture-MS), ILK (Affinity Capture-MS), LIMS1 (Affinity Capture-MS), RSU1 (Affinity Capture-MS), CBS (Co-fractionation), HNRNPA3 (Co-fractionation), ILK (Co-fractionation), LIMS1 (Co-fractionation), NDUFA8 (Co-fractionation), NTMT1 (Co-fractionation), PARVA (Co-fractionation), PFKP (Co-fractionation)
ESM2 similar proteins: A0A2R8QFQ6, A0A2R8RWN9, A6H779, B5DFK7, O35345, O60684, Q01730, Q15303, Q15404, Q17QS6, Q28D01, Q2HJ19, Q3ULA2, Q502M6, Q503E9, Q58DG6, Q5E9C0, Q5R3Z8, Q5R4Q7, Q5RBV0, Q5SP67, Q5SRY7, Q5XIJ5, Q5ZIN0, Q5ZJX1, Q61527, Q62956, Q67FW5, Q6DD70, Q6GL10, Q862Z2, Q8BH16, Q8C6G8, Q8N653, Q8N6D5, Q8VBX0, Q8VCV1, Q8VEG6, Q8WXK3, Q91854
Diamond homologs: Q01730, Q15404, Q5E9C0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
59 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3158 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:16593391:T:TA | donor_gain | 1.0000 |
| 10:16593397:T:C | donor_gain | 1.0000 |
| 10:16593492:AGAGG:A | acceptor_gain | 1.0000 |
| 10:16593493:GAGG:G | acceptor_gain | 1.0000 |
| 10:16593494:AGG:A | acceptor_gain | 1.0000 |
| 10:16593494:AGGC:A | acceptor_loss | 1.0000 |
| 10:16593495:GG:G | acceptor_gain | 1.0000 |
| 10:16593495:GGC:G | acceptor_loss | 1.0000 |
| 10:16593496:GCT:G | acceptor_loss | 1.0000 |
| 10:16593497:C:CC | acceptor_gain | 1.0000 |
| 10:16593497:C:G | acceptor_loss | 1.0000 |
| 10:16593498:T:C | acceptor_loss | 1.0000 |
| 10:16695015:CTACT:C | donor_loss | 1.0000 |
| 10:16695016:TACTT:T | donor_loss | 1.0000 |
| 10:16695017:ACT:A | donor_loss | 1.0000 |
| 10:16695018:CT:C | donor_loss | 1.0000 |
| 10:16695019:TT:T | donor_loss | 1.0000 |
| 10:16695020:TACTA:T | donor_loss | 1.0000 |
| 10:16695021:A:AC | donor_gain | 1.0000 |
| 10:16695021:ACTAT:A | donor_loss | 1.0000 |
| 10:16695022:C:CA | donor_gain | 1.0000 |
| 10:16695022:CT:C | donor_gain | 1.0000 |
| 10:16695022:CTA:C | donor_gain | 1.0000 |
| 10:16695022:CTAT:C | donor_gain | 1.0000 |
| 10:16695022:CTATT:C | donor_gain | 1.0000 |
| 10:16695153:TTC:T | acceptor_gain | 1.0000 |
| 10:16695154:TCCT:T | acceptor_loss | 1.0000 |
| 10:16695156:C:A | acceptor_loss | 1.0000 |
| 10:16695156:C:CC | acceptor_gain | 1.0000 |
| 10:16752533:CCTTA:C | donor_loss | 1.0000 |
AlphaMissense
1838 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:16695102:A:G | W218R | 1.000 |
| 10:16695102:A:T | W218R | 1.000 |
| 10:16695106:A:C | N216K | 1.000 |
| 10:16695106:A:T | N216K | 1.000 |
| 10:16752567:G:C | N190K | 1.000 |
| 10:16752567:G:T | N190K | 1.000 |
| 10:16752583:A:G | L185P | 1.000 |
| 10:16752636:G:C | N167K | 1.000 |
| 10:16752636:G:T | N167K | 1.000 |
| 10:16752652:A:G | L162P | 1.000 |
| 10:16752925:A:C | L159W | 1.000 |
| 10:16752969:G:C | N144K | 1.000 |
| 10:16752969:G:T | N144K | 1.000 |
| 10:16752985:A:G | L139P | 1.000 |
| 10:16754914:G:C | N119K | 1.000 |
| 10:16754914:G:T | N119K | 1.000 |
| 10:16754930:A:G | L114P | 1.000 |
| 10:16754939:A:T | L111H | 1.000 |
| 10:16754983:G:C | N96K | 1.000 |
| 10:16754983:G:T | N96K | 1.000 |
| 10:16764399:A:G | L91P | 1.000 |
| 10:16764452:G:C | N73K | 1.000 |
| 10:16764452:G:T | N73K | 1.000 |
| 10:16593494:A:G | L245P | 0.999 |
| 10:16695030:A:C | Y242D | 0.999 |
| 10:16695030:A:G | Y242H | 0.999 |
| 10:16695039:A:G | S239P | 0.999 |
| 10:16695056:A:T | V233D | 0.999 |
| 10:16695089:A:T | I222N | 0.999 |
| 10:16695100:C:A | W218C | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000028311 (10:16661236 G>T), RS1000033446 (10:16788174 T>C), RS1000039935 (10:16662988 A>C), RS1000053800 (10:16784866 T>C), RS1000060898 (10:16783304 T>C), RS1000064030 (10:16792460 C>A,G), RS1000078055 (10:16675930 T>G), RS1000080547 (10:16687659 A>G), RS1000088114 (10:16693593 G>A,T), RS1000106565 (10:16621194 G>T), RS1000126604 (10:16723046 A>G), RS1000127618 (10:16697464 A>G,T), RS1000138533 (10:16656714 C>G,T), RS1000139373 (10:16679825 C>A,T), RS1000174557 (10:16712839 T>C)
Disease associations
OMIM: gene MIM:179555 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000988_1 | Urinary albumin excretion | 1.000000e-11 |
| GCST001762_535 | Obesity-related traits | 6.000000e-06 |
| GCST001762_55 | Obesity-related traits | 4.000000e-07 |
| GCST001762_68 | Obesity-related traits | 5.000000e-06 |
| GCST001762_850 | Obesity-related traits | 8.000000e-06 |
| GCST001762_893 | Obesity-related traits | 2.000000e-06 |
| GCST003254_2 | Urinary albumin-to-creatinine ratio in non-diabetics | 4.000000e-06 |
| GCST004656_1 | Ratio of the peak velocity of the mitral E-Wave divided by the peak velocity of the mitral A-wave. | 9.000000e-06 |
| GCST005173_31 | Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes | 8.000000e-06 |
| GCST005231_33 | Major depressive disorder | 3.000000e-06 |
| GCST006633_22 | Initial alcohol sensitivity | 3.000000e-06 |
| GCST009378_26 | Bone mineral content | 6.000000e-07 |
| GCST009391_1969 | Metabolite levels | 5.000000e-06 |
| GCST010105_21 | Nicotine dependence symptom count | 5.000000e-06 |
| GCST010105_98 | Nicotine dependence symptom count | 2.000000e-06 |
| GCST010988_437 | Adult body size | 3.000000e-12 |
| GCST90002401_204 | Platelet distribution width | 8.000000e-54 |
| GCST90002402_109 | Platelet count | 8.000000e-10 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004285 | albuminuria |
| EFO:0004887 | maximal oxygen uptake measurement |
| EFO:0004908 | testosterone measurement |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0008204 | left ventricular diastolic function measurement |
| EFO:0004723 | coronary artery calcification |
| EFO:0007621 | bone mineral content measurement |
| EFO:0010541 | trimethylamine-N-oxide measurement |
| EFO:0009262 | nicotine dependence symptom count |
| EFO:0007984 | platelet component distribution width |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067230 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| bisphenol A | affects cotreatment, affects methylation, increases expression | 4 |
| Smoke | decreases expression, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression, decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| calfactant | affects cotreatment, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, affects methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Estradiol | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Furaldehyde | affects cotreatment, affects localization, 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 |
|---|---|---|---|
| CHEMBL5652972 | Binding | Binding affinity to human RSU1 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 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): major depressive disorder