SENP7
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Summary
SENP7 (SUMO specific peptidase 7, HGNC:30402) is a protein-coding gene on chromosome 3q12.3, encoding Sentrin-specific protease 7 (Q9BQF6). Protease that acts as a positive regulator of the cGAS-STING pathway by catalyzing desumoylation of CGAS.
The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).
Source: NCBI Gene 57337 — RefSeq curated summary.
At a glance
- Gene–disease (curated): arthrogryposis multiplex congenita (Strong, GenCC)
- GWAS associations: 16
- Clinical variants (ClinVar): 137 total — 1 pathogenic, 2 likely-pathogenic
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_020654
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30402 |
| Approved symbol | SENP7 |
| Name | SUMO specific peptidase 7 |
| Location | 3q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000138468 |
| Ensembl biotype | protein_coding |
| OMIM | 612846 |
| Entrez | 57337 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 retained_intron
ENST00000314261, ENST00000348610, ENST00000366089, ENST00000394085, ENST00000394091, ENST00000394094, ENST00000394095, ENST00000460107, ENST00000958688, ENST00000958689
RefSeq mRNA: 5 — MANE Select: NM_020654
NM_001077203, NM_001282801, NM_001282802, NM_001282803, NM_020654
CCDS: CCDS2941, CCDS43121, CCDS63704, CCDS63705, CCDS63706
Canonical transcript exons
ENST00000394095 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000934102 | 101327666 | 101327816 |
| ENSE00000934103 | 101328478 | 101328546 |
| ENSE00000934104 | 101328646 | 101328689 |
| ENSE00000934105 | 101330334 | 101330386 |
| ENSE00000934106 | 101331985 | 101332109 |
| ENSE00000967262 | 101398861 | 101399055 |
| ENSE00000967263 | 101372008 | 101372126 |
| ENSE00000967264 | 101367830 | 101368011 |
| ENSE00000967265 | 101366430 | 101366769 |
| ENSE00000967266 | 101364834 | 101364991 |
| ENSE00000967267 | 101361715 | 101361861 |
| ENSE00000967269 | 101343686 | 101343954 |
| ENSE00000967270 | 101341646 | 101341779 |
| ENSE00000967271 | 101340095 | 101340211 |
| ENSE00000967272 | 101337509 | 101337631 |
| ENSE00000967273 | 101332770 | 101332862 |
| ENSE00001014442 | 101351618 | 101351651 |
| ENSE00001209748 | 101458955 | 101459052 |
| ENSE00001252388 | 101347872 | 101348051 |
| ENSE00001386624 | 101417593 | 101417790 |
| ENSE00001866860 | 101324205 | 101326080 |
| ENSE00003493796 | 101513091 | 101513212 |
| ENSE00003560172 | 101501070 | 101501119 |
| ENSE00003668679 | 101493873 | 101493968 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 95.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4218 / max 229.6578, expressed in 1693 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 43545 | 10.7162 | 1656 |
| 43544 | 1.3899 | 679 |
| 43543 | 0.3158 | 165 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 95.15 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.87 | gold quality |
| left ovary | UBERON:0002119 | 91.81 | gold quality |
| right ovary | UBERON:0002118 | 91.60 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.22 | gold quality |
| ventricular zone | UBERON:0003053 | 91.00 | gold quality |
| tibia | UBERON:0000979 | 90.82 | gold quality |
| body of uterus | UBERON:0009853 | 90.55 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.46 | gold quality |
| right uterine tube | UBERON:0001302 | 90.43 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.38 | gold quality |
| tibial nerve | UBERON:0001323 | 90.27 | gold quality |
| endothelial cell | CL:0000115 | 90.25 | gold quality |
| left uterine tube | UBERON:0001303 | 90.02 | gold quality |
| cortical plate | UBERON:0005343 | 89.76 | gold quality |
| ovary | UBERON:0000992 | 89.75 | gold quality |
| endometrium | UBERON:0001295 | 89.68 | gold quality |
| body of pancreas | UBERON:0001150 | 89.48 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 89.20 | gold quality |
| endocervix | UBERON:0000458 | 88.60 | gold quality |
| corpus callosum | UBERON:0002336 | 88.50 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 88.28 | gold quality |
| sural nerve | UBERON:0015488 | 88.08 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 87.91 | gold quality |
| lymph node | UBERON:0000029 | 87.89 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.59 | gold quality |
| monocyte | CL:0000576 | 87.57 | gold quality |
| tendon | UBERON:0000043 | 87.30 | gold quality |
| ectocervix | UBERON:0012249 | 87.25 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 87.14 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.15 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
83 targeting SENP7, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
Literature-anchored findings (GeneRIF, showing 9)
- SENP6 and SENP7 exhibit lower rates for processing pre-SUMO1, pre-SUMO2, or pre-SUMO3 in comparison with SENP2 (PMID:18799455)
- Loop 1 insertion in SENP6 and SENP7 as a platform to discriminate between SUMO1 and SUMO2/3 isoforms in this subclass of the SUMO protease family. (PMID:21878624)
- differential splicing of the SENP7 regulates either tumor suppression or progression (PMID:23045645)
- deSUMOylation by SENP7 is required to promote a permissive chromatin environment for DNA repair. (PMID:24018422)
- c-Myc is targeted to the proteasome for degradation in a SUMOylation-dependent manner, regulated by PIAS1, SENP7 and RNF4 (PMID:25895136)
- non-tumorigenic MCF10-2A cells with reduced SENP7S exhibit greater cell proliferation and anchorage-dependent growth. SENP7S depletion directly potentiates tumorigenic properties of MCF10-2A cells with induction of anchorage-independent growth and self-renewal in 3D-spheroid conditions. Collectively, the results identify SENP7S as a novel mediator of beta-catenin signaling and normal mammary epithelial cell physiology. (PMID:28429743)
- SPOP inhibits hepatocellular carcinoma (HCC) cell metastasis via ubiquitin-dependent SENP7 proteolysis and may thus serve as a new opinion for the prevention of HCC metastasis. (PMID:29777712)
- DeSUMOylase SENP7-Mediated Epithelial Signaling Triggers Intestinal Inflammation via Expansion of Gamma-Delta T Cells. (PMID:31825833)
- SENP7 senses oxidative stress to sustain metabolic fitness and antitumor functions of CD8+ T cells. (PMID:35143421)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | senp7b | ENSDARG00000061138 |
| danio_rerio | si:dkey-100n23.3 | ENSDARG00000062148 |
| mus_musculus | Senp7 | ENSMUSG00000052917 |
| drosophila_melanogaster | pira | FBGN0030420 |
| caenorhabditis_elegans | WBGENE00006739 |
Paralogs (1): SENP6 (ENSG00000112701)
Protein
Protein identifiers
Sentrin-specific protease 7 — Q9BQF6 (reviewed: Q9BQF6)
Alternative names: SUMO-1-specific protease 2, Sentrin/SUMO-specific protease SENP7
All UniProt accessions (3): Q9BQF6, H7C1X8, J3QT09
UniProt curated annotations — full annotation on UniProt →
Function. Protease that acts as a positive regulator of the cGAS-STING pathway by catalyzing desumoylation of CGAS. Desumoylation of CGAS promotes DNA-binding activity of CGAS, subsequent oligomerization and activation. Deconjugates SUMO2 and SUMO3 from targeted proteins, but not SUMO1. Catalyzes the deconjugation of poly-SUMO2 and poly-SUMO3 chains. Has very low efficiency in processing full-length SUMO proteins to their mature forms.
Subcellular location. Cytoplasm.
Similarity. Belongs to the peptidase C48 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BQF6-1 | 1 | yes |
| Q9BQF6-2 | 2 | |
| Q9BQF6-3 | 3 | |
| Q9BQF6-4 | 4 | |
| Q9BQF6-5 | 5 |
RefSeq proteins (5): NP_001070671, NP_001269730, NP_001269731, NP_001269732, NP_065705* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003653 | Peptidase_C48_C | Domain |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
| IPR051947 | Sentrin-specific_protease | Family |
Pfam: PF02902
Enzyme classification (BRENDA):
- EC 3.4.22.B75 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)
UniProt features (62 total): helix 12, strand 9, modified residue 8, compositionally biased region 7, sequence conflict 7, region of interest 5, splice variant 5, active site 3, sequence variant 2, mutagenesis site 2, chain 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7R2E | X-RAY DIFFRACTION | 1.74 |
| 3EAY | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BQF6-F1 | 57.05 | 0.25 |
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 (3): 860; 939; 992 (nucleophile)
Post-translational modifications (8): 11, 12, 13, 25, 373, 433, 443, 444
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 775 | slightly increased deconjugation activity. |
| 779 | reduces deconjugation activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 143 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_UP, TGCGCANK_UNKNOWN, ATGCAGT_MIR217, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_DEFENSE_RESPONSE_TO_VIRUS, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, GOBP_RESPONSE_TO_VIRUS, GOCC_POSTSYNAPSE, GOCC_SYNAPSE, LEE_RECENT_THYMIC_EMIGRANT, GOBP_PROTEOLYSIS
GO Biological Process (5): proteolysis (GO:0006508), protein desumoylation (GO:0016926), antiviral innate immune response (GO:0140374), immune system process (GO:0002376), innate immune response (GO:0045087)
GO Molecular Function (5): SUMO-specific endopeptidase activity (GO:0070139), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), presynaptic cytosol (GO:0099523), postsynaptic cytosol (GO:0099524)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytosol | 2 |
| protein metabolic process | 1 |
| peptidyl-lysine modification | 1 |
| protein modification by small protein removal | 1 |
| innate immune response | 1 |
| defense response to virus | 1 |
| biological_process | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| ubiquitin-like protein-specific endopeptidase activity | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| presynapse | 1 |
| postsynapse | 1 |
Protein interactions and networks
STRING
1566 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SENP7 | SUMO2 | P55855 | 902 |
| SENP7 | RANGAP1 | P46060 | 900 |
| SENP7 | SUMO1 | P55856 | 890 |
| SENP7 | UBE2I | P50550 | 678 |
| SENP7 | SAE1 | Q9UBE0 | 673 |
| SENP7 | RAP2A | P10114 | 657 |
| SENP7 | SENP8 | Q96LD8 | 651 |
| SENP7 | DESI1 | Q6ICB0 | 645 |
| SENP7 | CBX5 | P45973 | 631 |
| SENP7 | RAP1A | P10113 | 617 |
| SENP7 | UBA2 | Q9UBT2 | 605 |
| SENP7 | USPL1 | Q5W0Q7 | 604 |
| SENP7 | RNF4 | P78317 | 579 |
| SENP7 | DESI2 | Q9BSY9 | 578 |
| SENP7 | PIAS4 | Q8N2W9 | 571 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CBX5 | SENP7 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SENP7 | TRIM28 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DAXX | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| SENP7 | VIM | psi-mi:“MI:0915”(physical association) | 0.400 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| CBX5 | ZNF568 | psi-mi:“MI:0914”(association) | 0.350 |
| H2BC21 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZCCHC10 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| DAXX | SETD1A | psi-mi:“MI:0914”(association) | 0.350 |
| SETDB2 | DHX16 | psi-mi:“MI:0914”(association) | 0.350 |
| CBX3 | ZNF324 | psi-mi:“MI:0914”(association) | 0.350 |
| DAXX | psi-mi:“MI:0914”(association) | 0.350 | |
| BCL6 | CACNA1A | psi-mi:“MI:0914”(association) | 0.350 |
| CBX3 | MYL12B | psi-mi:“MI:0914”(association) | 0.350 |
| CBX5 | ZNF292 | psi-mi:“MI:0914”(association) | 0.350 |
| SENP7 | MYL12B | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPC | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| RBM15 | ILVBL | psi-mi:“MI:2364”(proximity) | 0.270 |
| ZRANB2 | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NPM1 | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (41): SENP7 (Synthetic Lethality), SENP7 (Affinity Capture-MS), SENP7 (Affinity Capture-MS), SENP7 (Affinity Capture-MS), CSTA (Affinity Capture-MS), MYL12B (Affinity Capture-MS), RBBP4 (Affinity Capture-MS), TRIM28 (Affinity Capture-MS), AHDC1 (Affinity Capture-MS), CBX3 (Affinity Capture-MS), CBX5 (Affinity Capture-MS), CHAMP1 (Affinity Capture-MS), SENP7 (Affinity Capture-Western), SPOP (Affinity Capture-Western), SENP7 (Affinity Capture-RNA)
ESM2 similar proteins: A0JM80, A6H8Y1, A7MBJ2, D3ZF42, E9Q6J5, F4I700, F4J3S1, F4KCE9, F6QRE9, O04251, O82345, P23497, P46100, P48785, P48786, Q04996, Q05B65, Q0WTB8, Q13342, Q15361, Q32MZ4, Q3UZ39, Q3ZBR9, Q4QSC8, Q571C7, Q5H9K5, Q5RHP9, Q61687, Q66HF9, Q7YQM3, Q7YQM4, Q7Z5L2, Q8BJM3, Q8C4A5, Q8C9B9, Q8GZ87, Q8H991, Q8IW19, Q92576, Q940Y3
Diamond homologs: A7MBJ2, D3ZF42, O13769, O42957, Q02724, Q6P7W0, Q8BUH8, Q8GYL3, Q8L7S0, Q94F30, Q9BQF6, Q9GZR1, Q0WKV8, Q2PS26, Q8RWN0, O65278, P59110, Q09353, Q5R7K7, Q5RBB1, Q6NXL6, Q8WP32, Q91ZX6, Q96HI0, Q9EP97, Q9EQE1, Q9H4L4, Q9HC62, Q9P0U3, O13612, Q09275, Q23238
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
137 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 2 |
| Uncertain significance | 98 |
| Likely benign | 12 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4072000 | NM_020654.5(SENP7):c.973C>T (p.Gln325Ter) | Pathogenic |
| 2501008 | NM_020654.5(SENP7):c.1474C>T (p.Gln492Ter) | Likely pathogenic |
| 3340479 | NM_020654.5(SENP7):c.3088C>T (p.Arg1030Trp) | Likely pathogenic |
SpliceAI
5067 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:101326078:ATCC:A | acceptor_loss | 1.0000 |
| 3:101326079:TC:T | acceptor_gain | 1.0000 |
| 3:101326079:TCCT:T | acceptor_loss | 1.0000 |
| 3:101326080:CC:C | acceptor_gain | 1.0000 |
| 3:101328473:CT:C | donor_loss | 1.0000 |
| 3:101328473:CTTA:C | donor_gain | 1.0000 |
| 3:101328474:TT:T | donor_loss | 1.0000 |
| 3:101328475:TACT:T | donor_loss | 1.0000 |
| 3:101328476:A:AC | donor_gain | 1.0000 |
| 3:101328476:AC:A | donor_loss | 1.0000 |
| 3:101328476:ACT:A | donor_gain | 1.0000 |
| 3:101328476:ACTCT:A | donor_gain | 1.0000 |
| 3:101328477:C:CA | donor_gain | 1.0000 |
| 3:101328477:CT:C | donor_gain | 1.0000 |
| 3:101328477:CTC:C | donor_gain | 1.0000 |
| 3:101328477:CTCT:C | donor_gain | 1.0000 |
| 3:101328477:CTCTC:C | donor_gain | 1.0000 |
| 3:101328543:TGGC:T | acceptor_gain | 1.0000 |
| 3:101328545:GCCTA:G | acceptor_loss | 1.0000 |
| 3:101328546:CC:C | acceptor_loss | 1.0000 |
| 3:101328546:CCTA:C | acceptor_gain | 1.0000 |
| 3:101328547:C:CC | acceptor_gain | 1.0000 |
| 3:101328548:T:C | acceptor_loss | 1.0000 |
| 3:101328549:A:AC | acceptor_gain | 1.0000 |
| 3:101328549:A:C | acceptor_gain | 1.0000 |
| 3:101328641:CCTA:C | donor_loss | 1.0000 |
| 3:101328644:ACC:A | donor_loss | 1.0000 |
| 3:101328686:TACTC:T | acceptor_loss | 1.0000 |
| 3:101328687:ACTCT:A | acceptor_loss | 1.0000 |
| 3:101328688:CT:C | acceptor_gain | 1.0000 |
AlphaMissense
6919 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:101326033:A:C | F1021L | 1.000 |
| 3:101326033:A:T | F1021L | 1.000 |
| 3:101326034:A:G | F1021S | 1.000 |
| 3:101326035:A:G | F1021L | 1.000 |
| 3:101326038:A:G | W1020R | 1.000 |
| 3:101326038:A:T | W1020R | 1.000 |
| 3:101327691:A:G | L997S | 1.000 |
| 3:101327703:C:T | G993E | 1.000 |
| 3:101327704:C:G | G993R | 1.000 |
| 3:101327704:C:T | G993R | 1.000 |
| 3:101327705:A:C | C992W | 1.000 |
| 3:101327706:C:T | C992Y | 1.000 |
| 3:101327707:A:G | C992R | 1.000 |
| 3:101327723:C:A | Q986H | 1.000 |
| 3:101327723:C:G | Q986H | 1.000 |
| 3:101327733:A:T | V983D | 1.000 |
| 3:101328481:C:G | R954P | 1.000 |
| 3:101328526:T:A | D939V | 1.000 |
| 3:101328535:A:G | L936P | 1.000 |
| 3:101332089:A:T | V865D | 1.000 |
| 3:101332100:C:A | W861C | 1.000 |
| 3:101332100:C:G | W861C | 1.000 |
| 3:101332102:A:G | W861R | 1.000 |
| 3:101332102:A:T | W861R | 1.000 |
| 3:101332105:G:C | H860D | 1.000 |
| 3:101332826:C:A | W839C | 1.000 |
| 3:101332826:C:G | W839C | 1.000 |
| 3:101332828:A:G | W839R | 1.000 |
| 3:101332828:A:T | W839R | 1.000 |
| 3:101337574:A:C | S805R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000241 (3:101476277 G>A), RS1000000322 (3:101387696 C>A,T), RS1000009165 (3:101432613 G>A), RS1000015585 (3:101339004 T>G), RS1000024397 (3:101513342 T>C), RS1000040786 (3:101395145 C>G), RS1000053372 (3:101374534 T>C), RS1000100321 (3:101483368 C>T), RS1000158959 (3:101495305 T>C), RS1000179356 (3:101438868 C>T), RS1000182907 (3:101473534 T>C), RS1000194688 (3:101346248 A>G), RS1000196503 (3:101395287 G>A), RS1000212696 (3:101452591 C>G), RS1000234625 (3:101445983 A>G)
Disease associations
OMIM: gene MIM:612846 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| arthrogryposis multiplex congenita | Strong | Autosomal recessive |
Mondo (1): arthrogryposis multiplex congenita (MONDO:0015168)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004131_6 | Inflammatory bowel disease | 3.000000e-08 |
| GCST004132_78 | Crohn’s disease | 4.000000e-07 |
| GCST004630_120 | Mean corpuscular hemoglobin | 2.000000e-09 |
| GCST007268_71 | Diastolic blood pressure | 9.000000e-13 |
| GCST007511_24 | Alzheimer’s disease (late onset) | 4.000000e-06 |
| GCST008522_94 | Bitter alcoholic beverage consumption | 8.000000e-06 |
| GCST009066_33 | Mosaic loss of chromosome Y (Y chromosome dosage) | 8.000000e-19 |
| GCST009067_24 | Mosaic loss of chromosome Y (Y chromosome dosage) | 6.000000e-44 |
| GCST009856_15 | Leukocyte telomere length | 2.000000e-08 |
| GCST010043_112 | Asthma | 4.000000e-08 |
| GCST90002400_365 | Plateletcrit | 2.000000e-12 |
| GCST90002403_548 | Red blood cell count | 5.000000e-13 |
| GCST90011900_21 | Serum alkaline phosphatase levels | 2.000000e-10 |
| GCST90013406_240 | Liver enzyme levels (alkaline phosphatase) | 2.000000e-20 |
| GCST90020025_585 | Waist-to-hip ratio adjusted for BMI | 1.000000e-08 |
| GCST90020027_362 | Waist-hip index | 5.000000e-09 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0006336 | diastolic blood pressure |
| EFO:1001870 | late-onset Alzheimers disease |
| EFO:0010092 | bitter alcoholic beverage consumption measurement |
| EFO:0007783 | mosaic loss of chromosome Y measurement |
| EFO:0007985 | platelet crit |
| EFO:0004305 | erythrocyte count |
| EFO:0004533 | alkaline phosphatase measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1741213 (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: 5,477 (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 |
|---|---|---|---|
| CHEMBL165790 | IPRIFLAVONE | 2 | 5,477 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — C48: Ulp1 endopeptidase
Binding affinities (BindingDB)
8 measured of 18 human assays (18 total across all organisms); most potent 8 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value | Patent |
|---|---|---|---|
| SPI-02 | IC50 | 2100 nM | US-9791447: Methods of identifying SENP1 inhibitors |
| SPI-04 | IC50 | 2400 nM | US-9791447: Methods of identifying SENP1 inhibitors |
| SPI-10 | IC50 | 2400 nM | US-9791447: Methods of identifying SENP1 inhibitors |
| NSC8676 | IC50 | 3800 nM | US-9791447: Methods of identifying SENP1 inhibitors |
| NSC70551 | IC50 | 3900 nM | US-9791447: Methods of identifying SENP1 inhibitors |
| SPI-01 | IC50 | 5900 nM | US-9791447: Methods of identifying SENP1 inhibitors |
| SPI-05 | IC50 | 13300 nM | US-9791447: Methods of identifying SENP1 inhibitors |
| SPI-08 | IC50 | 22200 nM | US-9791447: Methods of identifying SENP1 inhibitors |
ChEMBL bioactivities
670 potent at pChembl≥5 of 900 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.45 | IC50 | 359 | nM | CHEMBL3196451 |
| 6.31 | IC50 | 490 | nM | CHEMBL1870914 |
| 6.31 | IC50 | 490 | nM | CHEMBL1316867 |
| 6.25 | IC50 | 558 | nM | CHEMBL1870914 |
| 6.23 | IC50 | 589 | nM | CHEMBL1316867 |
| 6.20 | IC50 | 635 | nM | CHEMBL1525161 |
| 6.16 | IC50 | 696 | nM | CHEMBL281980 |
| 6.12 | IC50 | 757 | nM | CHEMBL3191962 |
| 6.12 | IC50 | 750 | nM | CHEMBL1402456 |
| 6.12 | IC50 | 750 | nM | CHEMBL1891588 |
| 6.10 | IC50 | 788 | nM | CHEMBL1421255 |
| 6.10 | IC50 | 797 | nM | CHEMBL1506796 |
| 6.07 | IC50 | 857 | nM | CHEMBL1542328 |
| 6.07 | IC50 | 854 | nM | CHEMBL1879394 |
| 6.06 | IC50 | 863 | nM | CHEMBL1967857 |
| 6.05 | IC50 | 890 | nM | CHEMBL1891206 |
| 6.05 | IC50 | 896 | nM | CHEMBL1586985 |
| 6.04 | IC50 | 920 | nM | CHEMBL1871228 |
| 6.04 | IC50 | 910 | nM | CHEMBL1884442 |
| 6.03 | IC50 | 938 | nM | CHEMBL1475128 |
| 6.02 | IC50 | 955 | nM | CHEMBL1418096 |
| 6.02 | IC50 | 960 | nM | CHEMBL1869393 |
| 6.01 | IC50 | 987 | nM | CHEMBL1871228 |
| 6.01 | IC50 | 985 | nM | CHEMBL1869875 |
| 6.00 | IC50 | 1010 | nM | CHEMBL3195102 |
| 6.00 | IC50 | 1000 | nM | CHEMBL1302779 |
| 6.00 | IC50 | 1000 | nM | CHEMBL1319405 |
| 5.99 | IC50 | 1020 | nM | CHEMBL1449923 |
| 5.97 | IC50 | 1060 | nM | CHEMBL1889650 |
| 5.96 | IC50 | 1100 | nM | CHEMBL1577231 |
| 5.96 | IC50 | 1100 | nM | CHEMBL1878061 |
| 5.96 | IC50 | 1100 | nM | CHEMBL1884495 |
| 5.94 | IC50 | 1140 | nM | CHEMBL595840 |
| 5.94 | IC50 | 1160 | nM | CHEMBL1869393 |
| 5.92 | IC50 | 1210 | nM | CHEMBL1891206 |
| 5.92 | IC50 | 1200 | nM | CHEMBL1877777 |
| 5.91 | IC50 | 1220 | nM | CHEMBL1988780 |
| 5.91 | IC50 | 1230 | nM | CHEMBL1302779 |
| 5.89 | IC50 | 1300 | nM | CHEMBL1885269 |
| 5.88 | IC50 | 1310 | nM | CHEMBL1773702 |
| 5.88 | IC50 | 1310 | nM | CHEMBL1412015 |
| 5.87 | IC50 | 1360 | nM | CHEMBL1417815 |
| 5.87 | IC50 | 1350 | nM | CHEMBL1577231 |
| 5.87 | IC50 | 1360 | nM | CHEMBL1319405 |
| 5.87 | IC50 | 1350 | nM | CHEMBL1582654 |
| 5.86 | IC50 | 1390 | nM | CHEMBL1877777 |
| 5.85 | IC50 | 1400 | nM | CHEMBL1866613 |
| 5.85 | IC50 | 1400 | nM | CHEMBL1890591 |
| 5.85 | IC50 | 1400 | nM | CHEMBL1901952 |
| 5.84 | IC50 | 1460 | nM | CHEMBL1521051 |
PubChem BioAssay actives
2 with measured affinity, of 9 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 |
|---|---|---|---|---|
| 3-amino-4-[[4-[4-[(2-amino-6-sulfonaphthalen-1-yl)diazenyl]-3-methylphenyl]-2-methylphenyl]diazenyl]naphthalene-2,7-disulfonic acid | 1859347: Inhibition of His-tagged human SENP7 expressed in Escherichia coli (DE3) using YFP-SUMO-ECFP as substrate incubated for 15 mins by Coomassie staining based SDS-PAGE analysis | ic50 | 2.7000 | uM |
| [3-[[2-[[(2S)-5-(diaminomethylideneamino)-2-[[(2S)-2-[[2-(4-hydroxy-3-nitrophenyl)acetyl]amino]-4-methylpentanoyl]amino]pentanoyl]amino]acetyl]amino]-2-oxopropyl] anthracene-9-carboxylate | 1799555: Fluorogenic Assay from Article 10.1016/j.chembiol.2011.05.008: “Development of small molecule inhibitors and probes of human SUMO deconjugating proteases.” | ic50 | 4.3000 | uM |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects expression, affects methylation, decreases expression | 5 |
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 4 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Arsenic | decreases expression, affects cotreatment, increases abundance | 2 |
| Valproic Acid | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Clorgyline | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Folic Acid | decreases expression | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 3 functional, 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1738495 | Functional | PUBCHEM_BIOASSAY: Dose Response confirmation of uHTS for inhibitors of Sentrin-specific protease 7 (SENP7) using a Luminescent assay. (Class of assay: confirmatory) [Related pubchem assays (depositor defined):AID434973, AID434986] | PubChem BioAssay data set |
| CHEMBL5114417 | Binding | Inhibition of His-tagged human SENP7 expressed in Escherichia coli (DE3) using YFP-SUMO-ECFP as substrate incubated for 15 mins by Coomassie staining based SDS-PAGE analysis | Small-molecule inhibitors targeting small ubiquitin-like modifier pathway for the treatment of cancers and other diseases. — Eur J Med Chem |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1C7 | Ubigene SK-BR-3 SENP7 KO | Cancer cell line | Female |
| CVCL_E2JS | HAP1 SENP7 (-) 2 | Cancer cell line | Male |
| CVCL_E2JT | HAP1 SENP7 (-) 3 | Cancer cell line | Male |
| CVCL_XS56 | HAP1 SENP7 (-) 1 | Cancer cell line | Male |
Clinical trials (associated diseases)
4 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05393375 | Not specified | COMPLETED | Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation |
| NCT05673265 | Not specified | UNKNOWN | Pediatric and Adult Registry for Patients With ARThrogryposis |
| NCT06130592 | Not specified | UNKNOWN | Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound |
| NCT07360574 | Not specified | NOT_YET_RECRUITING | Piezo2-related Arthrogryposis & physiopathOLOgy 3 |
Related Atlas pages
- Associated diseases: arthrogryposis multiplex congenita
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): arthrogryposis multiplex congenita