SAMSN1
gene geneOn this page
Also known as NASH1SASH2SH3D6BHACS1SLy2
Summary
SAMSN1 (SAM domain, SH3 domain and nuclear localization signals 1, HGNC:10528) is a protein-coding gene on chromosome 21q11.2, encoding SAM domain-containing protein SAMSN-1 (Q9NSI8). Negative regulator of B-cell activation.
SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).
Source: NCBI Gene 64092 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 63 total
- Druggable target: yes
- MANE Select transcript:
NM_022136
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10528 |
| Approved symbol | SAMSN1 |
| Name | SAM domain, SH3 domain and nuclear localization signals 1 |
| Location | 21q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NASH1, SASH2, SH3D6B, HACS1, SLy2 |
| Ensembl gene | ENSG00000155307 |
| Ensembl biotype | protein_coding |
| OMIM | 607978 |
| Entrez | 64092 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 7 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000285670, ENST00000400562, ENST00000400564, ENST00000400566, ENST00000435732, ENST00000463807, ENST00000467280, ENST00000469393, ENST00000493640, ENST00000619120, ENST00000644288, ENST00000647101, ENST00000871911, ENST00000959353
RefSeq mRNA: 6 — MANE Select: NM_022136
NM_001256370, NM_001256579, NM_001286523, NM_001395857, NM_001395858, NM_022136
CCDS: CCDS42906, CCDS58786, CCDS74774, CCDS93082
Canonical transcript exons
ENST00000400566 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001020240 | 14516892 | 14517041 |
| ENSE00001020242 | 14510310 | 14510461 |
| ENSE00001020244 | 14500529 | 14500735 |
| ENSE00001020245 | 14512444 | 14512573 |
| ENSE00001308893 | 14521150 | 14521221 |
| ENSE00001543516 | 14546205 | 14546315 |
| ENSE00003605893 | 14498442 | 14498592 |
| ENSE00003903802 | 14485228 | 14486114 |
Expression profiles
Bgee: expression breadth ubiquitous, 250 present calls, max score 96.04.
FANTOM5 (CAGE): breadth broad, TPM avg 58.9810 / max 5507.1735, expressed in 738 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 189768 | 55.8122 | 675 |
| 189769 | 2.4507 | 383 |
| 189779 | 0.5246 | 120 |
| 189778 | 0.1253 | 58 |
| 189780 | 0.0531 | 10 |
| 189781 | 0.0151 | 5 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bone marrow | UBERON:0002371 | 96.04 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.99 | gold quality |
| bone marrow cell | CL:0002092 | 94.48 | gold quality |
| monocyte | CL:0000576 | 94.11 | gold quality |
| mononuclear cell | CL:0000842 | 94.09 | gold quality |
| leukocyte | CL:0000738 | 93.89 | gold quality |
| right lung | UBERON:0002167 | 93.20 | gold quality |
| blood | UBERON:0000178 | 93.17 | gold quality |
| spleen | UBERON:0002106 | 91.87 | gold quality |
| lymph node | UBERON:0000029 | 90.75 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.50 | gold quality |
| nasopharynx | UBERON:0001728 | 90.48 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 89.53 | gold quality |
| gall bladder | UBERON:0002110 | 89.36 | gold quality |
| granulocyte | CL:0000094 | 88.58 | gold quality |
| caecum | UBERON:0001153 | 88.43 | gold quality |
| superficial temporal artery | UBERON:0001614 | 88.43 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 88.35 | gold quality |
| lower lobe of lung | UBERON:0008949 | 87.93 | gold quality |
| upper lobe of lung | UBERON:0008948 | 87.85 | gold quality |
| periodontal ligament | UBERON:0008266 | 86.39 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.25 | gold quality |
| rectum | UBERON:0001052 | 86.22 | gold quality |
| omental fat pad | UBERON:0010414 | 85.97 | gold quality |
| peritoneum | UBERON:0002358 | 85.89 | gold quality |
| lung | UBERON:0002048 | 85.80 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 84.78 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 83.75 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.12 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 82.80 | gold quality |
Single-cell (SCXA)
Detected in 26 experiment(s), a significant marker in 24.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 3151.99 |
| E-GEOD-130148 | yes | 2293.20 |
| E-MTAB-7381 | yes | 780.18 |
| E-MTAB-8142 | yes | 90.85 |
| E-HCAD-1 | yes | 68.03 |
| E-CURD-88 | yes | 43.05 |
| E-GEOD-135922 | yes | 42.78 |
| E-GEOD-84465 | yes | 36.53 |
| E-HCAD-35 | yes | 30.30 |
| E-CURD-122 | yes | 27.22 |
| E-CURD-46 | yes | 21.88 |
| E-MTAB-8410 | yes | 18.24 |
| E-HCAD-10 | yes | 15.66 |
| E-CURD-112 | yes | 15.52 |
| E-MTAB-9067 | yes | 12.94 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
46 targeting SAMSN1, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
Literature-anchored findings (GeneRIF, showing 8)
- HACS1 is up-regulated by B cell activation signals and is a participant in B cell activation and differentiation. (PMID:15381729)
- downregulation of SAMSN1 gene in human lung cancer. (PMID:18523997)
- In the nucleus, SLy2 interacts with the SAP30/HDAC1 complex and regulates the activity of HDAC1. (PMID:20478393)
- the immunoinhibitory roles of SLy2 in vivo and suggest that the physiological up-regulation of SLy2 observed upon B cell activation functions to counteract excessive B cell spreading. (PMID:21296879)
- High expression of SAMSN1 is a significant risk factor for the progression free and overall survival of glioblastoma multiforme (PMID:24278465)
- This is the first study to identify deletion of a key gene in the C57BL/KaLwRij mice that also displays reduced gene expression in patients with MM and is therefore likely to play an integral role in MM disease development. (PMID:25117979)
- Suppression of SAMSN1 Expression is Associated with the Malignant Phenotype of Hepatocellular Carcinoma. (PMID:25805236)
- HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain. (PMID:33188360)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | samsn1a | ENSDARG00000054543 |
| danio_rerio | samsn1b | ENSDARG00000078647 |
| mus_musculus | Samsn1 | ENSMUSG00000022876 |
| rattus_norvegicus | Samsn1 | ENSRNOG00000030930 |
Paralogs (2): SASH1 (ENSG00000111961), SASH3 (ENSG00000122122)
Protein
Protein identifiers
SAM domain-containing protein SAMSN-1 — Q9NSI8 (reviewed: Q9NSI8)
Alternative names: Hematopoietic adaptor containing SH3 and SAM domains 1, Nash1, SAM domain, SH3 domain and nuclear localization signals protein 1, SH3-SAM adaptor protein
All UniProt accessions (3): Q9NSI8, A0A2R8Y4K8, S6FRS6
UniProt curated annotations — full annotation on UniProt →
Function. Negative regulator of B-cell activation. Down-regulates cell proliferation (in vitro). Promotes RAC1-dependent membrane ruffle formation and reorganization of the actin cytoskeleton. Regulates cell spreading and cell polarization. Stimulates HDAC1 activity. Regulates LYN activity by modulating its tyrosine phosphorylation.
Subunit / interactions. Interacts with FASLG. Interacts with phosphotyrosine containing proteins. Interacts (via SH3 domain) with CTTN. Interacts (phosphorylated at Ser-23) with YWHAB, YWHAE, YWHAG, YWHAH, YWHAZ and SFN. Interacts directly with SAP30 and HDAC1. Identified in a complex with SAP30 and HDAC1.
Subcellular location. Nucleus. Cytoplasm. Cell projection. Ruffle.
Tissue specificity. Detected in peripheral blood B-cells (at protein level). Detected in spleen, liver and peripheral blood.
Induction. Up-regulated in peripheral blood B-cells by IL4, IL13 and by CD40 stimulation.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NSI8-1 | 1 | yes |
| Q9NSI8-2 | 2, b | |
| Q9NSI8-3 | 3 |
RefSeq proteins (5): NP_001243299, NP_001273452, NP_001382786, NP_001382787, NP_071419* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001452 | SH3_domain | Domain |
| IPR001660 | SAM | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR021090 | SPIDER | Domain |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR037623 | SAMSN1_SAM | Domain |
| IPR051725 | SAM-SH3_domain_protein | Family |
Pfam: PF07647, PF07653, PF12485
UniProt features (29 total): modified residue 7, strand 5, sequence conflict 3, region of interest 3, compositionally biased region 3, domain 2, splice variant 2, chain 1, sequence variant 1, helix 1, short sequence motif 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6UZJ | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NSI8-F1 | 64.11 | 0.27 |
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 (7): 23, 34, 74, 76, 90, 119, 160
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 377 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, MCLACHLAN_DENTAL_CARIES_UP, LU_IL4_SIGNALING, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_B_CELL_ACTIVATION, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_B_CELL_ACTIVATION, GOCC_RUFFLE, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, NFKB_Q6, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS
GO Biological Process (4): negative regulation of adaptive immune response (GO:0002820), negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732), negative regulation of B cell activation (GO:0050869), regulation of intracellular signal transduction (GO:1902531)
GO Molecular Function (3): phosphotyrosine residue binding (GO:0001784), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (5): ruffle (GO:0001726), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| adaptive immune response | 1 |
| regulation of adaptive immune response | 1 |
| negative regulation of immune response | 1 |
| negative regulation of protein phosphorylation | 1 |
| peptidyl-tyrosine phosphorylation | 1 |
| regulation of peptidyl-tyrosine phosphorylation | 1 |
| B cell activation | 1 |
| regulation of B cell activation | 1 |
| negative regulation of lymphocyte activation | 1 |
| regulation of signal transduction | 1 |
| intracellular signal transduction | 1 |
| protein phosphorylated amino acid binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cell leading edge | 1 |
| plasma membrane bounded cell projection | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1212 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SAMSN1 | CRKL | P46109 | 636 |
| SAMSN1 | KIAA1143 | Q96AT1 | 606 |
| SAMSN1 | CRK | P46108 | 563 |
| SAMSN1 | CRTAM | O95727 | 524 |
| SAMSN1 | TMEM204 | Q9BSN7 | 509 |
| SAMSN1 | FCRL3 | Q96P31 | 475 |
| SAMSN1 | STAT6 | P42226 | 463 |
| SAMSN1 | DKKL1 | Q9UK85 | 461 |
| SAMSN1 | PRSS36 | Q5K4E3 | 456 |
| SAMSN1 | RBM11 | P57052 | 450 |
| SAMSN1 | KLF12 | Q9Y4X4 | 450 |
| SAMSN1 | CXCR3 | P49682 | 446 |
| SAMSN1 | PDCD1 | Q15116 | 438 |
| SAMSN1 | LILRB4 | Q8NHJ6 | 435 |
| SAMSN1 | DEF8 | Q6ZN54 | 420 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SAMSN1 | FASLG | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGGF1 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| DGCR8 | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GPKOW | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ILF3 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| LIN28B | MEX3A | psi-mi:“MI:2364”(proximity) | 0.270 |
| RPS3 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SBDS | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| YWHAG | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| DDX6 | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NPM1 | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SAMSN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (21): SAMSN1 (Proximity Label-MS), SAMSN1 (Proximity Label-MS), SAMSN1 (Proximity Label-MS), SAMSN1 (Protein-peptide), SAMSN1 (Affinity Capture-RNA), SAMSN1 (Reconstituted Complex), SAMSN1 (Reconstituted Complex), SAMSN1 (Reconstituted Complex), SAMSN1 (Reconstituted Complex), SAMSN1 (Reconstituted Complex), SAMSN1 (Reconstituted Complex), SAMSN1 (Reconstituted Complex), YWHAG (Affinity Capture-Western), SAMSN1 (Affinity Capture-Western), SAP30 (Affinity Capture-Western)
ESM2 similar proteins: A4IIJ3, A8KBE0, B2RWW0, O35867, O94885, P57725, P59808, Q12923, Q13009, Q3UG20, Q3UMG5, Q3UVC0, Q5DTU0, Q5PQ89, Q5TB30, Q5VUJ6, Q60610, Q69ZW3, Q6AWC2, Q6ING4, Q6P2L6, Q6PF55, Q6VAB6, Q6ZMN7, Q803Q4, Q86W92, Q8BLB8, Q8BZ05, Q8C0D4, Q8C115, Q8C8U0, Q8IVE3, Q8IWW6, Q8IZD2, Q8K3X6, Q8N4X5, Q8NDI1, Q8R4H2, Q8TEW0, Q8WZ64
Diamond homologs: A0JN71, O75995, O94885, P57725, P59672, P59808, Q8K352, Q92625, Q9NSI8, Q9XYM0, Q5TGI4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 52 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2396 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:14486112:TAA:T | acceptor_gain | 1.0000 |
| 21:14486112:TAAC:T | acceptor_loss | 1.0000 |
| 21:14486114:AC:A | acceptor_loss | 1.0000 |
| 21:14486115:C:CC | acceptor_gain | 1.0000 |
| 21:14486116:T:A | acceptor_loss | 1.0000 |
| 21:14498436:A:AC | donor_gain | 1.0000 |
| 21:14498437:C:CC | donor_gain | 1.0000 |
| 21:14498437:CTTA:C | donor_gain | 1.0000 |
| 21:14498438:TTACT:T | donor_loss | 1.0000 |
| 21:14498439:TA:T | donor_loss | 1.0000 |
| 21:14498440:A:AC | donor_gain | 1.0000 |
| 21:14498440:ACTT:A | donor_loss | 1.0000 |
| 21:14498440:ACTTT:A | donor_gain | 1.0000 |
| 21:14498441:C:CT | donor_gain | 1.0000 |
| 21:14498441:CT:C | donor_gain | 1.0000 |
| 21:14498441:CTT:C | donor_gain | 1.0000 |
| 21:14498441:CTTT:C | donor_gain | 1.0000 |
| 21:14498441:CTTTC:C | donor_gain | 1.0000 |
| 21:14498444:T:A | donor_gain | 1.0000 |
| 21:14498588:TATTC:T | acceptor_gain | 1.0000 |
| 21:14498589:ATTC:A | acceptor_gain | 1.0000 |
| 21:14498590:TTC:T | acceptor_gain | 1.0000 |
| 21:14498591:TC:T | acceptor_gain | 1.0000 |
| 21:14498591:TCC:T | acceptor_loss | 1.0000 |
| 21:14498592:CC:C | acceptor_gain | 1.0000 |
| 21:14498593:C:CA | acceptor_loss | 1.0000 |
| 21:14498593:C:CC | acceptor_gain | 1.0000 |
| 21:14498593:C:T | acceptor_gain | 1.0000 |
| 21:14498595:G:C | acceptor_gain | 1.0000 |
| 21:14498595:G:GC | acceptor_gain | 1.0000 |
AlphaMissense
2485 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 21:14500649:G:C | F216L | 1.000 |
| 21:14500649:G:T | F216L | 1.000 |
| 21:14500651:A:G | F216L | 1.000 |
| 21:14500656:A:G | F214S | 1.000 |
| 21:14500690:A:G | W203R | 1.000 |
| 21:14500690:A:T | W203R | 1.000 |
| 21:14500652:T:A | K215N | 0.999 |
| 21:14500652:T:G | K215N | 0.999 |
| 21:14500653:T:A | K215I | 0.999 |
| 21:14500654:T:C | K215E | 0.999 |
| 21:14500655:G:C | F214L | 0.999 |
| 21:14500655:G:T | F214L | 0.999 |
| 21:14500657:A:G | F214L | 0.999 |
| 21:14500662:C:T | G212E | 0.999 |
| 21:14500683:C:T | G205E | 0.999 |
| 21:14500688:C:A | W203C | 0.999 |
| 21:14500688:C:G | W203C | 0.999 |
| 21:14500696:C:G | G201R | 0.999 |
| 21:14500696:C:T | G201R | 0.999 |
| 21:14510320:A:G | L184P | 0.999 |
| 21:14510320:A:T | L184H | 0.999 |
| 21:14510340:A:C | S177R | 0.999 |
| 21:14510340:A:T | S177R | 0.999 |
| 21:14510342:T:G | S177R | 0.999 |
| 21:14510349:G:C | F174L | 0.999 |
| 21:14510349:G:T | F174L | 0.999 |
| 21:14510351:A:G | F174L | 0.999 |
| 21:14510368:G:T | A168D | 0.999 |
| 21:14498519:A:G | L281P | 0.998 |
| 21:14500650:A:G | F216S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000004130 (21:14602796 A>G), RS1000039544 (21:14553935 G>T), RS1000041523 (21:14489399 C>T), RS1000107926 (21:14631206 G>A,T), RS1000120253 (21:14625888 G>A,C), RS1000128797 (21:14576854 G>A,C), RS1000131043 (21:14504782 C>T), RS1000135821 (21:14631447 C>CT), RS1000144655 (21:14561712 A>G), RS1000159947 (21:14521307 T>C), RS1000165207 (21:14591565 T>C), RS1000173197 (21:14536863 A>G), RS1000176177 (21:14597484 G>A), RS1000181893 (21:14521440 C>A,T), RS1000219373 (21:14621678 T>C)
Disease associations
OMIM: gene MIM:607978 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002690_19 | Very long-chain saturated fatty acid levels (fatty acid 20:0) | 7.000000e-07 |
| GCST004224_1 | Coronary atherosclerosis (increased number of diseased vessels) (traffic exposure interaction) | 2.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006796 | very long-chain saturated fatty acid measurement |
| EFO:0007908 | traffic air pollution measurement |
| EFO:0007938 | coronary atherosclerosis measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067306 (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 |
|---|---|---|---|---|
| 8.19 | Kd | 6.486 | nM | CHEMBL5653589 |
| 8.19 | ED50 | 6.486 | nM | CHEMBL5653589 |
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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149340: Binding affinity to human SAMSN1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0065 | uM |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Air Pollutants | affects expression, increases abundance, increases response to substance | 2 |
| Benzo(a)pyrene | increases expression | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Nickel | increases expression | 2 |
| Tretinoin | increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| cupric chloride | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Air Pollutants, Occupational | increases expression | 1 |
| Vehicle Emissions | increases abundance, increases response to substance | 1 |
| Caffeine | increases phosphorylation | 1 |
| Calcitriol | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | increases expression | 1 |
| Demecolcine | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Naled | affects expression | 1 |
| Ozone | increases abundance, affects expression | 1 |
| Dronabinol | increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Vincristine | increases expression | 1 |
| Zinc | increases expression | 1 |
| Isotretinoin | increases expression | 1 |
| Aflatoxin B1 | 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 |
|---|---|---|---|
| CHEMBL5652382 | Binding | Binding affinity to human SAMSN1 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.