SDAD1
gene geneOn this page
Also known as FLJ10498Sda1hSDA
Summary
SDAD1 (SDA1 domain containing 1, HGNC:25537) is a protein-coding gene on chromosome 4q21.1, encoding Protein SDA1 homolog (Q9NVU7). Required for 60S pre-ribosomal subunits export to the cytoplasm. It is a common-essential gene (DepMap: required in 94.6% of cancer cell lines).
Predicted to be involved in ribosomal large subunit biogenesis and ribosomal large subunit export from nucleus. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Located in nucleolus and nucleoplasm.
Source: NCBI Gene 55153 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 128 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 94.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_018115
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25537 |
| Approved symbol | SDAD1 |
| Name | SDA1 domain containing 1 |
| Location | 4q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10498, Sda1, hSDA |
| Ensembl gene | ENSG00000198301 |
| Ensembl biotype | protein_coding |
| Entrez | 55153 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 5 protein_coding, 5 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay
ENST00000356260, ENST00000395710, ENST00000395711, ENST00000502543, ENST00000503411, ENST00000504975, ENST00000507396, ENST00000513089, ENST00000514710, ENST00000515836, ENST00000860913, ENST00000918117, ENST00000958683
RefSeq mRNA: 3 — MANE Select: NM_018115
NM_001288983, NM_001288984, NM_018115
CCDS: CCDS3573, CCDS75147
Canonical transcript exons
ENST00000356260 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001790296 | 75990752 | 75990945 |
| ENSE00001895725 | 75949915 | 75950797 |
| ENSE00003459971 | 75955975 | 75956136 |
| ENSE00003490146 | 75973317 | 75973391 |
| ENSE00003490526 | 75975924 | 75975995 |
| ENSE00003508074 | 75957847 | 75957941 |
| ENSE00003509135 | 75981933 | 75982037 |
| ENSE00003514430 | 75960066 | 75960192 |
| ENSE00003526967 | 75974076 | 75974133 |
| ENSE00003534949 | 75964135 | 75964211 |
| ENSE00003543809 | 75961211 | 75961308 |
| ENSE00003549547 | 75965764 | 75965822 |
| ENSE00003552458 | 75957518 | 75957708 |
| ENSE00003574410 | 75971357 | 75971458 |
| ENSE00003587373 | 75961028 | 75961104 |
| ENSE00003605589 | 75977646 | 75977756 |
| ENSE00003624460 | 75967277 | 75967334 |
| ENSE00003629859 | 75981372 | 75981470 |
| ENSE00003630313 | 75969296 | 75969399 |
| ENSE00003644482 | 75970309 | 75970378 |
| ENSE00003645847 | 75975744 | 75975844 |
| ENSE00003656296 | 75957325 | 75957409 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 97.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.7151 / max 338.3372, expressed in 1805 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 52611 | 28.7151 | 1805 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 97.50 | gold quality |
| secondary oocyte | CL:0000655 | 93.79 | gold quality |
| oocyte | CL:0000023 | 93.40 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.08 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.82 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.03 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 90.70 | gold quality |
| body of pancreas | UBERON:0001150 | 90.49 | gold quality |
| hair follicle | UBERON:0002073 | 90.42 | silver quality |
| smooth muscle tissue | UBERON:0001135 | 89.98 | gold quality |
| diaphragm | UBERON:0001103 | 89.97 | silver quality |
| gastrocnemius | UBERON:0001388 | 89.95 | gold quality |
| pancreas | UBERON:0001264 | 89.94 | gold quality |
| postcentral gyrus | UBERON:0002581 | 89.50 | gold quality |
| cortical plate | UBERON:0005343 | 89.49 | gold quality |
| adrenal tissue | UBERON:0018303 | 89.34 | gold quality |
| muscle of leg | UBERON:0001383 | 89.28 | gold quality |
| popliteal artery | UBERON:0002250 | 89.20 | gold quality |
| ventricular zone | UBERON:0003053 | 89.18 | gold quality |
| tibial artery | UBERON:0007610 | 89.18 | gold quality |
| lymph node | UBERON:0000029 | 89.13 | gold quality |
| rectum | UBERON:0001052 | 89.08 | gold quality |
| decidua | UBERON:0002450 | 89.08 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.91 | gold quality |
| parietal lobe | UBERON:0001872 | 88.86 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.84 | gold quality |
| leukocyte | CL:0000738 | 88.82 | gold quality |
| tendon | UBERON:0000043 | 88.82 | gold quality |
| monocyte | CL:0000576 | 88.74 | gold quality |
| mononuclear cell | CL:0000842 | 88.73 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 26.44 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
58 targeting SDAD1, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-34B-5P | 99.78 | 67.56 | 1175 |
| HSA-MIR-449C-5P | 99.78 | 67.63 | 1168 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-2682-5P | 99.73 | 67.38 | 1055 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-1197 | 99.70 | 67.75 | 1027 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 94.6% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- hSDA is the human ortholog of the yeast SDA1 gene (PMID:14976432)
- PUM2 and DAZL, are capable of binding the same mRNA sequences in the 3’UTR of human SDAD1 mRNA. (PMID:15607425)
- miR-378 inhibits the proliferation, migration and invasion of colon cancer cells by targeting SDAD1. (PMID:28725241)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sdad1 | ENSDARG00000105117 |
| mus_musculus | Sdad1 | ENSMUSG00000029415 |
| rattus_norvegicus | Sdad1 | ENSRNOG00000022229 |
| drosophila_melanogaster | Mys45A | FBGN0033379 |
| caenorhabditis_elegans | WBGENE00012676 |
Protein
Protein identifiers
Protein SDA1 homolog — Q9NVU7 (reviewed: Q9NVU7)
Alternative names: Nucleolar protein 130, SDA1 domain-containing protein 1
All UniProt accessions (5): D6RC74, D6RIR5, E7EW05, Q9NVU7, F8W8T7
UniProt curated annotations — full annotation on UniProt →
Function. Required for 60S pre-ribosomal subunits export to the cytoplasm.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Highly expressed in testis, kidney, spleen, brain and fetal tissues. Also expressed at lower level in heart, lung, liver, small intestine, ovary, uterus, mammary gland and placenta.
Polymorphism. Variations in SDAD1 may be a cause of susceptibility to seasonal allergic rhinitis (SAR). SAR is a common allergic disorder characterized by episodes of sneezing, rhinorrhea, and swelling of the nasal mucosa.
Miscellaneous. DAZL and PUM2 bind its 3’-UTR mRNA, suggesting that these proteins may regulate its translation.
Similarity. Belongs to the SDA1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NVU7-1 | 1 | yes |
| Q9NVU7-2 | 2 |
RefSeq proteins (3): NP_001275912, NP_001275913, NP_060585* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007949 | SDA1_MD | Domain |
| IPR012977 | SDA1_N | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR027312 | Sda1 | Family |
| IPR048292 | SDA1_C | Domain |
Pfam: PF05285, PF08158, PF21638
UniProt features (23 total): sequence conflict 7, modified residue 6, sequence variant 4, region of interest 2, chain 1, splice variant 1, coiled-coil region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FL3 | ELECTRON MICROSCOPY | 2.53 |
| 8FL2 | ELECTRON MICROSCOPY | 2.67 |
| 8FL4 | ELECTRON MICROSCOPY | 2.89 |
| 8IDY | ELECTRON MICROSCOPY | 3 |
| 8INF | ELECTRON MICROSCOPY | 3 |
| 8INK | ELECTRON MICROSCOPY | 3.2 |
| 8IPY | ELECTRON MICROSCOPY | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NVU7-F1 | 78.64 | 0.34 |
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 (6): 595, 232, 234, 236, 552, 585
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 117 (showing top):
GOBP_RIBOSOME_BIOGENESIS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_NUCLEAR_TRANSPORT, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_NUCLEAR_EXPORT, GOBP_ORGANELLE_LOCALIZATION, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, chr4q21, GOCC_NUCLEOLUS, MATSUDA_NATURAL_KILLER_DIFFERENTIATION, HAMAI_APOPTOSIS_VIA_TRAIL_UP, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, GOBP_RIBOSOMAL_LARGE_SUBUNIT_EXPORT_FROM_NUCLEUS
GO Biological Process (4): ribosomal large subunit export from nucleus (GO:0000055), protein transport (GO:0015031), ribosomal large subunit biogenesis (GO:0042273), ribosome biogenesis (GO:0042254)
GO Molecular Function (0):
GO Cellular Component (3): nucleoplasm (GO:0005654), nucleolus (GO:0005730), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribonucleoprotein complex biogenesis | 2 |
| nuclear lumen | 2 |
| ribosomal subunit export from nucleus | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| ribosome biogenesis | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2958 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SDAD1 | ZNF512 | Q96ME7 | 623 |
| SDAD1 | ZNF451 | Q9Y4E5 | 606 |
| SDAD1 | DHRS9 | Q9BPW9 | 571 |
| SDAD1 | RPF2 | Q9H7B2 | 564 |
| SDAD1 | RRP15 | Q9Y3B9 | 557 |
| SDAD1 | ZNF362 | Q5T0B9 | 552 |
| SDAD1 | DCUN1D3 | Q8IWE4 | 503 |
| SDAD1 | KLHL8 | Q9P2G9 | 485 |
| SDAD1 | BYSL | Q13895 | 484 |
| SDAD1 | DCUN1D4 | Q92564 | 473 |
| SDAD1 | FAM13C | Q8NE31 | 471 |
| SDAD1 | RSL24D1 | Q9UHA3 | 470 |
| SDAD1 | NSA2 | O95478 | 469 |
| SDAD1 | RRP7A | Q9Y3A4 | 459 |
| SDAD1 | LRIF1 | Q5T3J3 | 455 |
IntAct
120 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NEMP1 | RGPD8 | psi-mi:“MI:0914”(association) | 0.640 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| PLEKHO1 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB10 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF512 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| NAP1L1 | RPL17 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| RBBP4 | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| NAP1L1 | FNTB | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| GATA3 | PRMT5 | psi-mi:“MI:0914”(association) | 0.350 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| OAS3 | PTBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| TXNDC15 | ORC4 | psi-mi:“MI:0914”(association) | 0.350 |
| CDX1 | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| FGF8 | ANKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS14 | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (196): SDAD1 (Affinity Capture-MS), SDAD1 (Affinity Capture-MS), SDAD1 (Affinity Capture-MS), SDAD1 (Affinity Capture-MS), SDAD1 (Co-fractionation), SDAD1 (Co-fractionation), SDAD1 (Co-fractionation), SDAD1 (Co-fractionation), SDAD1 (Co-fractionation), SDAD1 (Co-fractionation), SDAD1 (Co-fractionation), SDAD1 (Affinity Capture-MS), SDAD1 (Affinity Capture-RNA), SDAD1 (Proximity Label-MS), SDAD1 (Proximity Label-MS)
ESM2 similar proteins: A4IIB1, A5D7C2, A7S6A5, A7SWH1, A8WWU0, B5X171, F4IDJ0, G0S215, O01757, O02328, O36021, O42832, O44411, P25582, P53313, P53569, P91136, Q03701, Q07896, Q10342, Q19753, Q2VPG3, Q4VBT2, Q55DE2, Q5RJT2, Q5XGZ8, Q5XIQ5, Q61LN7, Q6BNQ8, Q6C9Q1, Q6CV12, Q6DEV3, Q6FX63, Q6NRQ2, Q6NU91, Q6NV26, Q751U1, Q7KKH3, Q80UZ2, Q9C6I8
Diamond homologs: A4IIB1, A5D7C2, A7S6A5, G0S215, P53313, Q10342, Q2VPG3, Q55DE2, Q5XIQ5, Q6NV26, Q7KKH3, Q80UZ2, Q9NEU2, Q9NVU7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 151 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Eukaryotic Translation Initiation | 8 | 24.0× | 3e-08 |
| Cap-dependent Translation Initiation | 8 | 24.0× | 3e-08 |
| SARS-CoV-1 modulates host translation machinery | 8 | 24.0× | 3e-08 |
| Peptide chain elongation | 19 | 23.4× | 2e-19 |
| Viral mRNA Translation | 19 | 23.4× | 2e-19 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 19 | 23.1× | 3e-19 |
| SRP-dependent cotranslational protein targeting to membrane | 23 | 22.4× | 2e-22 |
| Selenocysteine synthesis | 19 | 22.2× | 5e-19 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 22 | 29.7× | 8e-24 |
| ribosomal small subunit biogenesis | 12 | 19.9× | 3e-10 |
| ribosomal large subunit biogenesis | 5 | 16.2× | 2e-03 |
| translation | 20 | 15.0× | 2e-15 |
| rRNA processing | 12 | 12.4× | 6e-08 |
| chromatin remodeling | 9 | 4.8× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
128 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 96 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3570 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:75956132:CCAGC:C | acceptor_gain | 1.0000 |
| 4:75956133:CAGCC:C | acceptor_gain | 1.0000 |
| 4:75956135:GCCTA:G | acceptor_loss | 1.0000 |
| 4:75956137:C:CC | acceptor_gain | 1.0000 |
| 4:75957319:A:AC | donor_gain | 1.0000 |
| 4:75957320:C:CC | donor_gain | 1.0000 |
| 4:75957320:CT:C | donor_gain | 1.0000 |
| 4:75957320:CTCA:C | donor_gain | 1.0000 |
| 4:75957321:TCACC:T | donor_loss | 1.0000 |
| 4:75957322:CA:C | donor_loss | 1.0000 |
| 4:75957323:A:AC | donor_gain | 1.0000 |
| 4:75957323:AC:A | donor_gain | 1.0000 |
| 4:75957324:C:CA | donor_loss | 1.0000 |
| 4:75957324:C:CC | donor_gain | 1.0000 |
| 4:75957324:CC:C | donor_gain | 1.0000 |
| 4:75957405:CACCC:C | acceptor_gain | 1.0000 |
| 4:75957407:CCC:C | acceptor_gain | 1.0000 |
| 4:75957408:CC:C | acceptor_gain | 1.0000 |
| 4:75957408:CCC:C | acceptor_gain | 1.0000 |
| 4:75957409:CC:C | acceptor_gain | 1.0000 |
| 4:75957410:C:CC | acceptor_gain | 1.0000 |
| 4:75957411:T:A | acceptor_loss | 1.0000 |
| 4:75957415:G:C | acceptor_gain | 1.0000 |
| 4:75957709:C:CC | acceptor_gain | 1.0000 |
| 4:75957710:T:C | acceptor_gain | 1.0000 |
| 4:75957710:T:TC | acceptor_gain | 1.0000 |
| 4:75957843:TTA:T | donor_loss | 1.0000 |
| 4:75957844:T:TG | donor_loss | 1.0000 |
| 4:75957845:A:AC | donor_gain | 1.0000 |
| 4:75957846:C:CT | donor_gain | 1.0000 |
AlphaMissense
4627 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:75964171:A:T | V382D | 1.000 |
| 4:75957340:T:A | R613S | 0.999 |
| 4:75957340:T:G | R613S | 0.999 |
| 4:75961089:G:T | A432D | 0.999 |
| 4:75961301:C:G | A397P | 0.999 |
| 4:75964135:C:T | G394E | 0.999 |
| 4:75964136:C:G | G394R | 0.999 |
| 4:75964136:C:T | G394R | 0.999 |
| 4:75964173:A:C | F381L | 0.999 |
| 4:75964173:A:T | F381L | 0.999 |
| 4:75964174:A:G | F381S | 0.999 |
| 4:75964175:A:G | F381L | 0.999 |
| 4:75975745:A:G | W193R | 0.999 |
| 4:75975745:A:T | W193R | 0.999 |
| 4:75975762:A:G | L187P | 0.999 |
| 4:75990786:A:G | L19P | 0.999 |
| 4:75950782:C:G | A678P | 0.998 |
| 4:75957341:C:G | R613T | 0.998 |
| 4:75961240:A:G | L417P | 0.998 |
| 4:75974116:A:T | V199D | 0.998 |
| 4:75974133:C:A | W193C | 0.998 |
| 4:75974133:C:G | W193C | 0.998 |
| 4:75977650:C:G | R134P | 0.998 |
| 4:75990777:C:G | R22P | 0.998 |
| 4:75956033:A:G | M653T | 0.997 |
| 4:75961065:C:G | R440P | 0.997 |
| 4:75961090:C:G | A432P | 0.997 |
| 4:75961101:A:T | V428E | 0.997 |
| 4:75961297:A:T | I398K | 0.997 |
| 4:75964135:C:A | G394V | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000124122 (4:75949462 C>A), RS1000170419 (4:75950178 G>A), RS1000225081 (4:75949871 G>A), RS1000242925 (4:75991061 G>A,T), RS1000250167 (4:75960714 A>T), RS1000322121 (4:75978985 A>C,G), RS1000339139 (4:75966460 G>GACAA), RS1000378451 (4:75955881 C>T), RS1000485113 (4:75961972 A>G), RS1000504681 (4:75990284 C>A,G,T), RS1000531524 (4:75985073 T>C,G), RS1000640195 (4:75965103 A>G), RS1000680502 (4:75972770 C>G), RS1000681971 (4:75949558 C>G), RS1000788016 (4:75960661 A>G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000785_38 | Longevity | 1.000000e-06 |
| GCST007009_3 | Hippocampal volume | 7.000000e-07 |
| GCST009204_2 | Total intracranial volume | 7.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005035 | hippocampal volume |
| EFO:0004886 | intracranial volume measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067199 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 9.07 | Kd | 0.852 | nM | CHEMBL5653589 |
| 9.02 | ED50 | 0.949 | nM | CHEMBL5653589 |
| 7.23 | Kd | 58.34 | nM | CHEMBL3752910 |
| 7.19 | ED50 | 65.03 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149355: Binding affinity to human SDAD1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0009 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149355: Binding affinity to human SDAD1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0583 | uM |
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases abundance, decreases expression, affects expression | 2 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression, decreases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression, decreases expression | 1 |
| Mustard Gas | increases phosphorylation | 1 |
| Nickel | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | decreases methylation | 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 |
|---|---|---|---|
| CHEMBL5652397 | Binding | Binding affinity to human SDAD1 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.