SRM
gene geneOn this page
Also known as SPS1
Summary
SRM (spermidine synthase, HGNC:11296) is a protein-coding gene on chromosome 1p36.22, encoding Spermidine synthase (P19623). Catalyzes the production of spermidine from putrescine and decarboxylated S-adenosylmethionine (dcSAM).
The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor.
Source: NCBI Gene 6723 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 40 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_003132
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11296 |
| Approved symbol | SRM |
| Name | spermidine synthase |
| Location | 1p36.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SPS1 |
| Ensembl gene | ENSG00000116649 |
| Ensembl biotype | protein_coding |
| OMIM | 182891 |
| Entrez | 6723 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000376957, ENST00000459997, ENST00000465788, ENST00000475189, ENST00000487300, ENST00000490101, ENST00000882301, ENST00000882302, ENST00000923261
RefSeq mRNA: 1 — MANE Select: NM_003132
NM_003132
CCDS: CCDS125
Canonical transcript exons
ENST00000376957 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000743124 | 11055781 | 11055926 |
| ENSE00000743131 | 11059225 | 11059345 |
| ENSE00001836529 | 11059777 | 11060018 |
| ENSE00002811250 | 11054962 | 11055084 |
| ENSE00002894224 | 11054589 | 11054885 |
| ENSE00003658005 | 11058800 | 11058892 |
| ENSE00003694014 | 11056604 | 11056757 |
| ENSE00003786400 | 11056011 | 11056094 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 98.40.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 67.9739 / max 574.9587, expressed in 1817 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 10287 | 61.9056 | 1816 |
| 10286 | 4.0685 | 1388 |
| 10283 | 1.9999 | 1047 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 98.40 | gold quality |
| apex of heart | UBERON:0002098 | 97.57 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.44 | gold quality |
| tibial nerve | UBERON:0001323 | 97.11 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.81 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 96.64 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.41 | gold quality |
| left coronary artery | UBERON:0001626 | 96.34 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.27 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.25 | gold quality |
| right coronary artery | UBERON:0001625 | 96.11 | gold quality |
| coronary artery | UBERON:0001621 | 96.09 | gold quality |
| amygdala | UBERON:0001876 | 96.00 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.97 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.92 | gold quality |
| left uterine tube | UBERON:0001303 | 95.91 | gold quality |
| cortical plate | UBERON:0005343 | 95.89 | gold quality |
| putamen | UBERON:0001874 | 95.84 | gold quality |
| ascending aorta | UBERON:0001496 | 95.61 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.56 | gold quality |
| muscle of leg | UBERON:0001383 | 95.50 | gold quality |
| cingulate cortex | UBERON:0003027 | 95.44 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.36 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.31 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.26 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.25 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.24 | gold quality |
| cardiac atrium | UBERON:0002081 | 95.22 | gold quality |
| right ovary | UBERON:0002118 | 95.20 | gold quality |
| omental fat pad | UBERON:0010414 | 95.19 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-8 | yes | 56.48 |
| E-MTAB-9467 | yes | 47.44 |
| E-HCAD-1 | yes | 42.40 |
| E-CURD-122 | yes | 22.94 |
| E-CURD-46 | yes | 19.61 |
| E-HCAD-9 | yes | 15.76 |
| E-MTAB-8271 | yes | 10.57 |
| E-MTAB-10553 | yes | 8.37 |
| E-CURD-84 | no | 543.46 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
31 targeting SRM, 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-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-6743-5P | 99.48 | 63.60 | 721 |
| HSA-MIR-194-5P | 99.01 | 69.65 | 1465 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
| HSA-MIR-4718 | 98.55 | 68.61 | 814 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
| HSA-MIR-4667-5P | 97.61 | 66.67 | 1683 |
| HSA-MIR-4642 | 97.52 | 67.60 | 916 |
| HSA-MIR-7855-5P | 97.39 | 67.18 | 925 |
| HSA-MIR-541-3P | 96.07 | 66.11 | 1271 |
| HSA-MIR-654-5P | 96.07 | 66.18 | 1280 |
| HSA-MIR-4649-5P | 93.02 | 63.85 | 141 |
Literature-anchored findings (GeneRIF, showing 2)
- Comparison of the structure of the human spermidine synthase with the known structure of T. maritima spermidine synthase provides a general mechanistic hypothesis for the aminopropyl transfer reaction. (PMID:17585781)
- The potential role of c-MYC and polyamine metabolism in multiple drug resistance in bladder cancer investigated by metabonomics. (PMID:34843906)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | srm | ENSDARG00000055760 |
| mus_musculus | Srm | ENSMUSG00000006442 |
| rattus_norvegicus | LOC120101528 | ENSRNOG00000070709 |
| drosophila_melanogaster | SpdS | FBGN0037723 |
| caenorhabditis_elegans | WBGENE00012909 |
Paralogs (1): SMS (ENSG00000102172)
Protein
Protein identifiers
Spermidine synthase — P19623 (reviewed: P19623)
Alternative names: Putrescine aminopropyltransferase
All UniProt accessions (5): P19623, K7EKM4, K7EL89, K7EQ47, K7ESL0
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the production of spermidine from putrescine and decarboxylated S-adenosylmethionine (dcSAM). Has a strong preference for putrescine as substrate, and has very low activity towards 1,3-diaminopropane. Has extremely low activity towards spermidine.
Subunit / interactions. Homodimer or homotetramer.
Activity regulation. The activity is thought to be regulated mainly by the availability of decarboxylated S-adenosylmethionine.
Pathway. Amine and polyamine biosynthesis; spermidine biosynthesis; spermidine from putrescine: step 1/1.
Similarity. Belongs to the spermidine/spermine synthase family.
RefSeq proteins (1): NP_003123* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001045 | Spermi_synthase | Family |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
| IPR030373 | PABS_CS | Conserved_site |
| IPR030374 | PABS | Domain |
| IPR030668 | Spermi_synthase_euk | Family |
| IPR035246 | Spermidine_synt_N | Domain |
| IPR037163 | Spermidine_synt_N_sf | Homologous_superfamily |
Pfam: PF01564, PF17284
Enzyme classification (BRENDA):
- EC 2.5.1.16 — spermidine synthase (BRENDA: 44 organisms, 77 substrates, 170 inhibitors, 49 Km, 22 kcat entries)
Substrate kinetics (BRENDA)
6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 1,4-DIAMINOBUTANE | 0.012–0.2 | 15 |
| S-ADENOSYLMETHIONINAMINE | 0.0001–0.111 | 12 |
| PUTRESCINE | 0.019–0.205 | 7 |
| S-ADENOSYL-3-METHYLTHIO-1-PROPYLAMINE | 0.0003–0.007 | 6 |
| S-ADENOSYL-(5’)-3-METHYLTHIO-1-PROPYLAMINE | 0.0004–1.1 | 4 |
| S-ADENOSYL 3-(METHYLSULFANYL)PROPYLAMINE | 0.02 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- S-adenosyl 3-(methylsulfanyl)propylamine + putrescine = S-methyl-5’-thioadenosine + spermidine + H(+) (RHEA:12721)
UniProt features (44 total): strand 14, helix 13, binding site 9, turn 2, chain 1, domain 1, modified residue 1, sequence variant 1, sequence conflict 1, active site 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2O07 | X-RAY DIFFRACTION | 1.89 |
| 9Q41 | X-RAY DIFFRACTION | 1.95 |
| 2O0L | X-RAY DIFFRACTION | 1.99 |
| 2O05 | X-RAY DIFFRACTION | 2 |
| 2O06 | X-RAY DIFFRACTION | 2 |
| 3RW9 | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P19623-F1 | 94.64 | 0.91 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 173 (proton acceptor)
Ligand- & substrate-binding residues (9): 173; 241; 49; 79; 80; 104; 124; 155–156; 173–176
Post-translational modifications (1): 1
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-351202 | Metabolism of polyamines |
| R-HSA-1430728 | Metabolism |
| R-HSA-71291 | Metabolism of amino acids and derivatives |
MSigDB gene sets: 238 (showing top):
ELVIDGE_HYPOXIA_DN, GOBP_RESPONSE_TO_PEPTIDE, KEGG_CYSTEINE_AND_METHIONINE_METABOLISM, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, WEI_MYCN_TARGETS_WITH_E_BOX, SCHUHMACHER_MYC_TARGETS_UP, GOBP_POLYAMINE_METABOLIC_PROCESS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GROSS_HYPOXIA_VIA_HIF1A_UP, MORF_BUB3, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_UP
GO Biological Process (4): polyamine metabolic process (GO:0006595), spermidine biosynthetic process (GO:0008295), cellular response to leukemia inhibitory factor (GO:1990830), polyamine biosynthetic process (GO:0006596)
GO Molecular Function (6): spermidine synthase activity (GO:0004766), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), catalytic activity (GO:0003824), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (1): cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of amino acids and derivatives | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| biogenic amine metabolic process | 1 |
| polyamine biosynthetic process | 1 |
| spermidine metabolic process | 1 |
| cellular response to cytokine stimulus | 1 |
| response to leukemia inhibitory factor | 1 |
| polyamine metabolic process | 1 |
| biogenic amine biosynthetic process | 1 |
| transferase activity, transferring alkyl or aryl (other than methyl) groups | 1 |
| protein binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| molecular_function | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2172 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SRM | ODC1 | P11926 | 983 |
| SRM | PAOX | Q6QHF9 | 821 |
| SRM | AZIN2 | Q96A70 | 805 |
| SRM | SMOX | Q9NWM0 | 776 |
| SRM | SAT1 | P21673 | 741 |
| SRM | AGMAT | Q9BSE5 | 715 |
| SRM | ARG2 | P78540 | 709 |
| SRM | DHPS | P49366 | 691 |
| SRM | ARG1 | P05089 | 665 |
| SRM | OAT | P04181 | 665 |
| SRM | DOHH | Q9BU89 | 665 |
| SRM | MTAP | Q13126 | 625 |
| SRM | ASL | P04424 | 622 |
| SRM | ASS1 | P00966 | 603 |
| SRM | SMS | P52788 | 599 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SRM | SRM | psi-mi:“MI:0915”(physical association) | 0.810 |
| SRM | SRM | psi-mi:“MI:0407”(direct interaction) | 0.810 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| VCAM1 | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| SRM | TERF1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| EFHC1 | SRM | psi-mi:“MI:0914”(association) | 0.510 |
| SRM | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SOX12 | SRM | psi-mi:“MI:0915”(physical association) | 0.370 |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| DMWD | P4HA2 | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| ZDHHC5 | HACD3 | psi-mi:“MI:0914”(association) | 0.350 |
| DDA1 | PGK1 | psi-mi:“MI:0914”(association) | 0.350 |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| VCAM1 | psi-mi:“MI:0914”(association) | 0.350 | |
| PIDD1 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| ATF3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| STAT3 | NACA | psi-mi:“MI:0914”(association) | 0.350 |
| CFTR | UBA6 | psi-mi:“MI:2364”(proximity) | 0.270 |
| BUD13 | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (86): SRM (Affinity Capture-RNA), SRM (Affinity Capture-RNA), SRM (Affinity Capture-MS), CRK (Co-fractionation), HK2 (Co-fractionation), SRM (Co-fractionation), SRM (Co-fractionation), SRM (Co-fractionation), SRM (Co-fractionation), TIPRL (Co-fractionation), SRM (Affinity Capture-MS), SRM (Affinity Capture-MS), SRM (Affinity Capture-MS), SRM (Affinity Capture-MS), SRM (Affinity Capture-MS)
ESM2 similar proteins: A0JNU3, A1A4L8, A2APY7, A2AV36, A5GFY8, A5GFZ6, A6H791, A7MBC0, A7YW45, B2GV71, B5DPF1, D4A1R8, O14744, O88202, O95396, O95571, P19623, P31754, P43353, Q28HC6, Q3KRD0, Q3T094, Q4QR99, Q4R5M3, Q5BJY6, Q5R698, Q5ZKI2, Q64674, Q66JK4, Q6AY46, Q6NS21, Q6NUA1, Q7SYK1, Q80XC2, Q86U10, Q8C166, Q8CIG8, Q8GWT4, Q8JZV7, Q96FX7
Diamond homologs: A0A314LG79, A3DDA0, A4W6M6, A4XKM9, A5IJD3, A5N219, A6M1N9, A6T4R6, A6TRI3, A7GVB2, A7ZHL0, A7ZW70, A8ALG8, A8MLM9, A9KQ99, A9MPN3, A9MZR2, A9VSG3, B0K172, B0K9I5, B0SI93, B0STV8, B1I5Z0, B1IQL9, B1XC96, B2TMY2, B2V328, B4SU91, B4TJD2, B4TXL7, B4U8W2, B5BL97, B5F815, B5FIB4, B5R2R5, B5RHA5, B5Y1R1, B6HZ96, B7LFY8, B7M162
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 27 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1007 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:11054957:CCCA:C | donor_loss | 1.0000 |
| 1:11054958:CCAC:C | donor_loss | 1.0000 |
| 1:11054959:CACCT:C | donor_loss | 1.0000 |
| 1:11054960:A:T | donor_loss | 1.0000 |
| 1:11054961:C:CA | donor_loss | 1.0000 |
| 1:11055083:CT:C | acceptor_gain | 1.0000 |
| 1:11055085:C:CC | acceptor_gain | 1.0000 |
| 1:11055098:C:CT | acceptor_gain | 1.0000 |
| 1:11055775:TCTCA:T | donor_loss | 1.0000 |
| 1:11055776:CTCAC:C | donor_loss | 1.0000 |
| 1:11055777:TCA:T | donor_loss | 1.0000 |
| 1:11055778:CACCG:C | donor_loss | 1.0000 |
| 1:11055779:A:AC | donor_gain | 1.0000 |
| 1:11055779:ACCG:A | donor_loss | 1.0000 |
| 1:11055780:C:CC | donor_gain | 1.0000 |
| 1:11055922:CTCGC:C | acceptor_gain | 1.0000 |
| 1:11056005:GCTCA:G | donor_loss | 1.0000 |
| 1:11056006:CTCA:C | donor_loss | 1.0000 |
| 1:11056007:TCA:T | donor_loss | 1.0000 |
| 1:11056008:CAC:C | donor_loss | 1.0000 |
| 1:11056009:A:AC | donor_gain | 1.0000 |
| 1:11056009:A:AG | donor_loss | 1.0000 |
| 1:11056009:AC:A | donor_gain | 1.0000 |
| 1:11056010:C:A | donor_loss | 1.0000 |
| 1:11056010:C:CC | donor_gain | 1.0000 |
| 1:11056010:CC:C | donor_gain | 1.0000 |
| 1:11056034:T:TA | donor_gain | 1.0000 |
| 1:11056090:GGGGC:G | acceptor_gain | 1.0000 |
| 1:11056091:GGGC:G | acceptor_gain | 1.0000 |
| 1:11056092:GGC:G | acceptor_gain | 1.0000 |
AlphaMissense
1989 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:11056075:G:C | F185L | 1.000 |
| 1:11056075:G:T | F185L | 1.000 |
| 1:11056077:A:G | F185L | 1.000 |
| 1:11056621:T:A | D173V | 1.000 |
| 1:11055806:C:T | G247D | 0.999 |
| 1:11055807:C:G | G247R | 0.999 |
| 1:11055815:C:T | G244D | 0.999 |
| 1:11055915:A:G | W211R | 0.999 |
| 1:11055915:A:T | W211R | 0.999 |
| 1:11056620:G:C | D173E | 0.999 |
| 1:11056620:G:T | D173E | 0.999 |
| 1:11056621:T:C | D173G | 0.999 |
| 1:11056621:T:G | D173A | 0.999 |
| 1:11056622:C:A | D173Y | 0.999 |
| 1:11056622:C:G | D173H | 0.999 |
| 1:11058879:C:T | G101E | 0.999 |
| 1:11058888:A:G | L98P | 0.999 |
| 1:11054971:A:C | F293L | 0.998 |
| 1:11054971:A:T | F293L | 0.998 |
| 1:11054973:A:G | F293L | 0.998 |
| 1:11055806:C:A | G247V | 0.998 |
| 1:11055825:A:G | Y241H | 0.998 |
| 1:11055913:C:A | W211C | 0.998 |
| 1:11055913:C:G | W211C | 0.998 |
| 1:11056011:C:G | G207R | 0.998 |
| 1:11056040:A:G | L197P | 0.998 |
| 1:11056040:A:T | L197H | 0.998 |
| 1:11056077:A:T | F185I | 0.998 |
| 1:11058867:C:T | G105E | 0.998 |
| 1:11059278:A:G | Y79H | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000416974 (1:11055970 C>T), RS1001030484 (1:11057272 C>A,G,T), RS1001310289 (1:11061461 A>C), RS1001482683 (1:11057471 T>A), RS1001509124 (1:11056880 TTTA>T), RS1001769013 (1:11061794 T>G), RS1001858323 (1:11057004 G>A), RS1002450238 (1:11061495 A>ACAGGGGCT), RS1003232507 (1:11059998 C>A,T), RS1003455393 (1:11060164 C>G,T), RS1003456396 (1:11060468 A>G), RS1003527539 (1:11055672 C>A), RS1004359519 (1:11055658 G>A,T), RS1004826462 (1:11057570 A>G), RS1004868107 (1:11060745 C>T)
Disease associations
OMIM: gene MIM:182891 | 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 |
|---|---|---|
| GCST003475_1 | Beard thickness | 4.000000e-07 |
| GCST90013663_64 | Alanine aminotransferase levels | 3.000000e-13 |
| GCST90013664_94 | Aspartate aminotransferase levels | 1.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4232 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
9 potent at pChembl≥5 of 10 total, top 9 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.52 | IC50 | 3 | nM | CHEMBL608868 |
| 7.85 | IC50 | 14 | nM | CHEMBL608868 |
| 7.70 | IC50 | 20 | nM | CHEMBL605227 |
| 6.68 | Kd | 210.7 | nM | CHEMBL5653589 |
| 6.68 | ED50 | 210.7 | nM | CHEMBL5653589 |
| 6.60 | IC50 | 250 | nM | CHEMBL330673 |
| 6.30 | IC50 | 500 | nM | CHEMBL2021377 |
| 5.92 | IC50 | 1200 | nM | CHEMBL2021378 |
| 5.41 | IC50 | 3900 | nM | MOLIBRESIB |
PubChem BioAssay actives
8 with measured affinity, of 28 total; 7 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 |
|---|---|---|---|---|
| (2R,3S,4R)-2-[5-amino-3-(4-aminobutylamino)pentyl]-5-(6-aminopurin-9-yl)oxolane-3,4-diol | 162819: Inhibition of prokaryotic Escherichia coli Putrescine aminopropyltransferase was determined | ic50 | 0.0030 | uM |
| (2S,3S,4R)-2-[[1-amino-8-(3-aminopropylamino)octan-3-yl]sulfanylmethyl]-5-(6-aminopurin-9-yl)oxolane-3,4-diol | 203897: Inhibition of spermine synthase activity in rat ventral prostate was evaluated at 100 uM | ic50 | 0.0200 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149482: Binding affinity to human SRM incubated for 45 mins by Kinobead based pull down assay | kd | 0.2107 | uM |
| (2R,3R,4S,5S)-2-(6-aminopurin-9-yl)-5-(1,8-diaminooctan-3-ylsulfanylmethyl)oxolane-3,4-diol | 162818: Inhibition of prokaryotic Escherichia coli Putrescine aminopropyltransferase was determined | ic50 | 0.2500 | uM |
| (2R,3R,4S,5S)-2-(6-aminopurin-9-yl)-5-[[(3R)-1,8-diaminooctan-3-yl]sulfanylmethyl]oxolane-3,4-diol | 203871: Compound was evaluated for the inhibition of Spermidine synthase from Escherichia coli and expressed as I50 in uM | ic50 | 0.5000 | uM |
| (2R,3R,4S,5S)-2-(6-aminopurin-9-yl)-5-[[(3S)-1,8-diaminooctan-3-yl]sulfanylmethyl]oxolane-3,4-diol | 203871: Compound was evaluated for the inhibition of Spermidine synthase from Escherichia coli and expressed as I50 in uM | ic50 | 1.2000 | uM |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178704: Inhibition of SRM (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 3.9000 | uM |
CTD chemical–gene interactions
69 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, increases methylation | 5 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 5 |
| Tretinoin | affects cotreatment, decreases expression | 3 |
| cobaltous chloride | decreases expression, decreases reaction | 2 |
| Estradiol | increases expression | 2 |
| Nickel | increases expression | 2 |
| Silicon Dioxide | decreases methylation, increases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Cyclosporine | increases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| bismuth tripotassium dicitrate | increases expression | 1 |
| beauvericin | decreases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| afimoxifene | decreases reaction, increases expression | 1 |
| zinc chloride | decreases expression, decreases reaction | 1 |
| cypermethrin | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| ochratoxin A | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| azoxystrobin | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | increases expression | 1 |
| nutlin 3 | increases secretion, affects cotreatment | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| bisphenol S | increases expression | 1 |
| NSC 689534 | decreases expression, affects binding | 1 |
ChEMBL screening assays
23 unique, capped per target: 23 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1101769 | Binding | Inhibition of Srm at 10 uM | Discovery of N-substituted pyridinones as potent and selective inhibitors of p38 kinase. — Bioorg Med Chem Lett |
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.