PSMF1
gene geneOn this page
Also known as PI31
Summary
PSMF1 (proteasome inhibitor subunit 1, HGNC:9571) is a protein-coding gene on chromosome 20p13, encoding Proteasome inhibitor PI31 subunit (Q92530). Plays an important role in control of proteasome function. It is a selective cancer dependency (DepMap: 16.1% of cell lines).
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene.
Source: NCBI Gene 9491 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder with motor features (Strong, GenCC)
- GWAS associations: 3
- Clinical variants (ClinVar): 69 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 16.1% of screened cell lines
- MANE Select transcript:
NM_006814
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9571 |
| Approved symbol | PSMF1 |
| Name | proteasome inhibitor subunit 1 |
| Location | 20p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PI31 |
| Ensembl gene | ENSG00000125818 |
| Ensembl biotype | protein_coding |
| OMIM | 617858 |
| Entrez | 9491 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 13 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000246015, ENST00000333082, ENST00000335877, ENST00000381898, ENST00000381899, ENST00000418246, ENST00000435720, ENST00000478004, ENST00000479715, ENST00000484891, ENST00000652336, ENST00000879396, ENST00000879397, ENST00000879398, ENST00000879399, ENST00000937764, ENST00000937765, ENST00000954240
RefSeq mRNA: 6 — MANE Select: NM_006814
NM_001323407, NM_001323408, NM_001323409, NM_001323410, NM_006814, NM_178578
CCDS: CCDS13010, CCDS82589
Canonical transcript exons
ENST00000335877 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003471528 | 1125498 | 1125650 |
| ENSE00003545681 | 1127426 | 1127508 |
| ENSE00003547538 | 1165029 | 1172246 |
| ENSE00003628741 | 1163130 | 1163183 |
| ENSE00003659963 | 1164318 | 1164476 |
| ENSE00003788943 | 1135121 | 1135306 |
| ENSE00003841897 | 1118602 | 1118902 |
Expression profiles
Bgee: expression breadth ubiquitous, 302 present calls, max score 99.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 86.3669 / max 3292.3946, expressed in 1826 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 183079 | 78.3257 | 1826 |
| 183085 | 3.7673 | 1579 |
| 183086 | 1.4766 | 1020 |
| 183080 | 1.1178 | 107 |
| 183089 | 0.9777 | 616 |
| 183084 | 0.3434 | 151 |
| 183082 | 0.2455 | 4 |
| 183077 | 0.0880 | 3 |
| 183078 | 0.0117 | 4 |
| 183075 | 0.0112 | 3 |
Top tissues by expression
303 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 99.35 | gold quality |
| male germ cell | CL:0000015 | 99.02 | gold quality |
| left testis | UBERON:0004533 | 98.67 | gold quality |
| right testis | UBERON:0004534 | 98.66 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.63 | gold quality |
| blood | UBERON:0000178 | 97.55 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.35 | gold quality |
| testis | UBERON:0000473 | 97.34 | gold quality |
| popliteal artery | UBERON:0002250 | 97.28 | gold quality |
| tibial artery | UBERON:0007610 | 97.28 | gold quality |
| monocyte | CL:0000576 | 97.18 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.11 | gold quality |
| right coronary artery | UBERON:0001625 | 97.10 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.07 | gold quality |
| muscle of leg | UBERON:0001383 | 96.98 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.97 | gold quality |
| leukocyte | CL:0000738 | 96.96 | gold quality |
| mononuclear cell | CL:0000842 | 96.95 | gold quality |
| bone marrow cell | CL:0002092 | 96.90 | gold quality |
| aorta | UBERON:0000947 | 96.84 | gold quality |
| left coronary artery | UBERON:0001626 | 96.65 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.54 | gold quality |
| cortical plate | UBERON:0005343 | 96.45 | gold quality |
| peripheral nervous system | UBERON:0000010 | 96.43 | gold quality |
| nerve | UBERON:0001021 | 96.43 | gold quality |
| tibial nerve | UBERON:0001323 | 96.43 | gold quality |
| endocervix | UBERON:0000458 | 96.37 | gold quality |
| coronary artery | UBERON:0001621 | 96.37 | gold quality |
| ventricular zone | UBERON:0003053 | 96.36 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.34 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 31.63 |
| E-MTAB-9221 | yes | 11.05 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
216 targeting PSMF1, 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-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 16.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- a model for FP domain-mediated dimerization of SCF(Fbxo7) and PI31 (PMID:18495667)
- cellular roles and mechanisms of PI31 in regulation of proteasome function remain unclear and require future definition. (PMID:24770418)
- NOD2 and TLR2 Signal via TBK1 and PI31 to Direct Cross-Presentation and CD8 T Cell Responses. (PMID:31114588)
- Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival. (PMID:33651148)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | psmf1 | ENSDARG00000022652 |
| mus_musculus | Psmf1 | ENSMUSG00000032869 |
| rattus_norvegicus | Psmf1 | ENSRNOG00000009640 |
| drosophila_melanogaster | CG12729 | FBGN0029816 |
| drosophila_melanogaster | PI31 | FBGN0033669 |
Protein
Protein identifiers
Proteasome inhibitor PI31 subunit — Q92530 (reviewed: Q92530)
All UniProt accessions (6): Q92530, A0A140VJT2, F5H4Z3, H0Y555, Q5QPM7, Q5QPM9
UniProt curated annotations — full annotation on UniProt →
Function. Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28.
Subunit / interactions. Monomer and homodimer. Interacts with FBXO7. Interacts with the 20S proteasome.
Subcellular location. Cytoplasm. Endoplasmic reticulum.
Similarity. Belongs to the proteasome inhibitor PI31 family.
RefSeq proteins (6): NP_001310336, NP_001310337, NP_001310338, NP_001310339, NP_006805, NP_848693 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013886 | PI31_Prot_C | Domain |
| IPR021625 | PI31_Prot_N | Domain |
| IPR045128 | PI31-like | Family |
Pfam: PF08577, PF11566
UniProt features (34 total): helix 7, strand 7, modified residue 6, turn 4, mutagenesis site 3, sequence variant 2, region of interest 2, initiator methionine 1, chain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4OUH | X-RAY DIFFRACTION | 2 |
| 2VT8 | X-RAY DIFFRACTION | 2.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92530-F1 | 75.15 | 0.50 |
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): 252, 2, 153, 205, 219, 231
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 6 | abolishes homodimerization. |
| 83 | abolishes interaction with fbxo7, but has no effect on homodimerization; when associated with e-90. |
| 90 | abolishes interaction with fbxo7, but has no effect on homodimerization; when associated with e-83. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9907900 | Proteasome assembly |
MSigDB gene sets: 213 (showing top):
GGGACCA_MIR133A_MIR133B, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, MORF_MSH3, KEGG_PROTEASOME, MORF_BRCA1, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, ATGCAGT_MIR217, MORF_ESR1, CACCAGC_MIR138, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, EFC_Q6
GO Biological Process (3): ubiquitin-dependent protein catabolic process (GO:0006511), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), negative regulation of proteasomal protein catabolic process (GO:1901799)
GO Molecular Function (5): endopeptidase inhibitor activity (GO:0004866), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), proteasome binding (GO:0070628), protein binding (GO:0005515)
GO Cellular Component (7): endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), proteasome core complex (GO:0005839), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), proteasome complex (GO:0000502), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 3 |
| proteasomal protein catabolic process | 2 |
| protein dimerization activity | 2 |
| intracellular protein-containing complex | 2 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| negative regulation of protein catabolic process | 1 |
| regulation of proteasomal protein catabolic process | 1 |
| endopeptidase activity | 1 |
| peptidase inhibitor activity | 1 |
| endopeptidase regulator activity | 1 |
| identical protein binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| proteasome complex | 1 |
| catalytic complex | 1 |
| endopeptidase complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1242 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PSMF1 | PSME4 | Q14997 | 819 |
| PSMF1 | PSME3 | P61289 | 763 |
| PSMF1 | FBXO7 | Q9Y3I1 | 714 |
| PSMF1 | PSMB10 | P40306 | 553 |
| PSMF1 | PSMG4 | Q5JS54 | 540 |
| PSMF1 | PSMD12 | O00232 | 515 |
| PSMF1 | PSMC4 | P43686 | 508 |
| PSMF1 | ECPAS | Q5VYK3 | 506 |
| PSMF1 | PSMB7 | Q99436 | 501 |
| PSMF1 | PSMD9 | O00233 | 494 |
| PSMF1 | PSMC6 | P49719 | 489 |
| PSMF1 | CDK6 | Q00534 | 457 |
| PSMF1 | PSMD4 | P55036 | 453 |
| PSMF1 | POMP | Q9Y244 | 453 |
| PSMF1 | AMN1 | Q8IY45 | 448 |
IntAct
140 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMA1 | PSMA7 | psi-mi:“MI:0914”(association) | 0.950 |
| PSMF1 | FBXO7 | psi-mi:“MI:0915”(physical association) | 0.930 |
| FBXO7 | PSMF1 | psi-mi:“MI:0915”(physical association) | 0.930 |
| FBXO7 | SKP1 | psi-mi:“MI:0914”(association) | 0.900 |
| PSMA2 | PSMA7 | psi-mi:“MI:0914”(association) | 0.850 |
| PSMG2 | PSMG1 | psi-mi:“MI:0914”(association) | 0.850 |
| PSMA5 | PSMA7 | psi-mi:“MI:0914”(association) | 0.800 |
| PSMB7 | PSMA7 | psi-mi:“MI:0914”(association) | 0.790 |
| PSMB2 | PSMA7 | psi-mi:“MI:0914”(association) | 0.790 |
| NHERF2 | PODXL | psi-mi:“MI:0914”(association) | 0.770 |
| PSMB3 | PSMA7 | psi-mi:“MI:0914”(association) | 0.770 |
| PSMB2 | PSMD11 | psi-mi:“MI:0914”(association) | 0.730 |
| PSMB4 | PSMA7 | psi-mi:“MI:0914”(association) | 0.730 |
| PSMA7 | PSMF1 | psi-mi:“MI:0915”(physical association) | 0.660 |
| PSMF1 | PSMA7 | psi-mi:“MI:0914”(association) | 0.660 |
| PSMB3 | PSMD11 | psi-mi:“MI:0914”(association) | 0.640 |
| PSMB7 | PSMD11 | psi-mi:“MI:0914”(association) | 0.640 |
| PSMF1 | PSMB1 | psi-mi:“MI:0914”(association) | 0.640 |
| PSMB1 | PSMA7 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (171): FBXO7 (Two-hybrid), PSMA2 (Reconstituted Complex), PSMA2 (Co-fractionation), PSMF1 (Reconstituted Complex), PSMC1 (Reconstituted Complex), PSMD8 (Reconstituted Complex), PSMC3 (Reconstituted Complex), PSMD4 (Co-fractionation), HIST1H1A (Affinity Capture-MS), PSMA1 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS), PSMF1 (Affinity Capture-MS)
ESM2 similar proteins: B0BN56, F4J077, F7C1E2, O00165, O35387, O35723, O54946, O75190, P12812, P25686, P58340, P70302, P84903, Q04757, Q08A72, Q0IHF9, Q13586, Q15773, Q22472, Q28C44, Q2KIE2, Q2TBE0, Q32KY3, Q3SX30, Q58CP9, Q5F3Z5, Q5R4T3, Q5R8H0, Q5XIU5, Q61733, Q68EU0, Q6AX41, Q6AYU3, Q6GNW0, Q7TSE9, Q80UP5, Q862Z4, Q8BHL8, Q8H1E8, Q8IZ07
Diamond homologs: Q3SX30, Q5RDN3, Q5XIU5, Q8BHL8, Q92530
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PSMF1 | “down-regulates activity” | “26S Proteasome” | binding |
| TNKS2 | “down-regulates quantity by destabilization” | PSMF1 | ADP-ribosylation |
| TNKS | “down-regulates quantity by destabilization” | PSMF1 | ADP-ribosylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 87 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 |
|---|---|---|---|
| Antigen processing: Ub, ATP-independent proteasomal degradation | 11 | 95.2× | 2e-19 |
| Proteasome assembly | 20 | 61.8× | 2e-29 |
| Vpu mediated degradation of CD4 | 15 | 60.4× | 2e-22 |
| FBXL7 down-regulates AURKA during mitotic entry and in early mitosis | 16 | 60.2× | 2e-23 |
| GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2 | 16 | 60.2× | 2e-23 |
| Regulation of activated PAK-2p34 by proteasome mediated degradation | 14 | 59.1× | 6e-21 |
| SCF-beta-TrCP mediated degradation of Emi1 | 16 | 57.7× | 2e-23 |
| Degradation of DVL | 16 | 57.7× | 2e-23 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of alternative mRNA splicing, via spliceosome | 5 | 14.9× | 4e-03 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 20 | 12.7× | 3e-14 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
69 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4820252 | GRCh37/hg19 20p13(chr20:61568-1700861)x1 | Pathogenic |
SpliceAI
1670 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:1118858:G:GT | donor_gain | 1.0000 |
| 20:1118858:G:T | donor_gain | 1.0000 |
| 20:1125481:AACT:A | acceptor_gain | 1.0000 |
| 20:1125482:ACTGT:A | acceptor_gain | 1.0000 |
| 20:1125484:T:A | acceptor_gain | 1.0000 |
| 20:1125486:T:TA | acceptor_gain | 1.0000 |
| 20:1125496:AGCC:A | acceptor_gain | 1.0000 |
| 20:1125496:AGCCG:A | acceptor_gain | 1.0000 |
| 20:1125497:GCC:G | acceptor_gain | 1.0000 |
| 20:1125497:GCCG:G | acceptor_gain | 1.0000 |
| 20:1125497:GCCGG:G | acceptor_gain | 1.0000 |
| 20:1125649:TGG:T | donor_loss | 1.0000 |
| 20:1125651:G:T | donor_loss | 1.0000 |
| 20:1125652:T:TC | donor_loss | 1.0000 |
| 20:1125653:G:GT | donor_loss | 1.0000 |
| 20:1125654:AGTC:A | donor_loss | 1.0000 |
| 20:1127425:GGAAT:G | acceptor_gain | 1.0000 |
| 20:1118898:ACCAG:A | donor_gain | 0.9900 |
| 20:1118899:CCAG:C | donor_loss | 0.9900 |
| 20:1118900:CAGGT:C | donor_loss | 0.9900 |
| 20:1118901:AGGTA:A | donor_loss | 0.9900 |
| 20:1118902:GG:G | donor_loss | 0.9900 |
| 20:1118904:T:A | donor_loss | 0.9900 |
| 20:1124469:G:GT | donor_gain | 0.9900 |
| 20:1125481:A:AG | acceptor_gain | 0.9900 |
| 20:1125482:A:G | acceptor_gain | 0.9900 |
| 20:1125482:ACT:A | acceptor_gain | 0.9900 |
| 20:1125487:G:A | acceptor_gain | 0.9900 |
| 20:1125493:CCCA:C | acceptor_loss | 0.9900 |
| 20:1125494:CCA:C | acceptor_loss | 0.9900 |
AlphaMissense
1760 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:1164439:T:C | F243L | 0.997 |
| 20:1164441:T:A | F243L | 0.997 |
| 20:1164441:T:G | F243L | 0.997 |
| 20:1125540:T:A | W58R | 0.996 |
| 20:1125540:T:C | W58R | 0.996 |
| 20:1164440:T:C | F243S | 0.992 |
| 20:1164440:T:G | F243C | 0.991 |
| 20:1125573:T:G | Y69D | 0.986 |
| 20:1135144:T:C | L130P | 0.986 |
| 20:1164436:C:A | R242S | 0.986 |
| 20:1118855:T:A | W28R | 0.985 |
| 20:1118855:T:C | W28R | 0.985 |
| 20:1118843:T:C | C24R | 0.984 |
| 20:1164422:T:A | V237E | 0.983 |
| 20:1164434:C:A | A241D | 0.983 |
| 20:1164443:A:G | D244G | 0.983 |
| 20:1125601:T:C | L78P | 0.982 |
| 20:1125542:G:C | W58C | 0.980 |
| 20:1125542:G:T | W58C | 0.980 |
| 20:1135125:T:G | Y124D | 0.979 |
| 20:1135144:T:A | L130H | 0.979 |
| 20:1125529:T:G | L54R | 0.978 |
| 20:1125571:G:C | R68P | 0.978 |
| 20:1127460:T:C | L106P | 0.978 |
| 20:1164448:T:C | F246L | 0.976 |
| 20:1164450:T:A | F246L | 0.976 |
| 20:1164450:T:G | F246L | 0.976 |
| 20:1164407:T:A | L232H | 0.975 |
| 20:1125529:T:A | L54Q | 0.974 |
| 20:1125568:T:C | L67P | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000035453 (20:1147587 G>A), RS1000037453 (20:1116297 G>A,T), RS1000041244 (20:1111433 T>C), RS1000041602 (20:1113304 T>A,C), RS1000107092 (20:1154090 C>A), RS1000174777 (20:1152421 A>G), RS1000217071 (20:1140999 A>G), RS1000278392 (20:1147948 A>G), RS1000303394 (20:1135011 A>G), RS1000310641 (20:1153697 C>T), RS1000440269 (20:1134770 C>G), RS1000514566 (20:1138130 C>A), RS1000536467 (20:1154900 G>A), RS1000565464 (20:1138548 A>T), RS1000672909 (20:1150352 C>T)
Disease associations
OMIM: gene MIM:617858 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder with motor features | Strong | Autosomal recessive |
Mondo (2): complex neurodevelopmental disorder with motor features (MONDO:0100516), disease (MONDO:0000001)
Orphanet (1): (Orphanet:377788)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004029_2 | Angiotensin-converting enzyme inhibitor intolerance | 6.000000e-06 |
| GCST006994_4 | Logical memory (immediate recall) in Alzheimer’s disease dementia | 5.000000e-07 |
| GCST011780_1 | Neonatal white matter microstructure | 5.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005325 | response to angiotensin-converting enzyme inhibitor |
| EFO:0004874 | memory performance |
| EFO:0005674 | white matter microstructure measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D004194 | Disease | C23.550.288 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, increases expression, increases methylation | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| Valproic Acid | increases expression, decreases methylation | 2 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| nobiletin | decreases reaction, increases expression | 1 |
| sodium arsenate | decreases reaction, increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| CD 437 | decreases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| bisphenol AF | increases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Calcitriol | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Diclofenac | affects expression | 1 |
| Doxorubicin | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Rotenone | decreases expression | 1 |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1LH | Abcam Jurkat PSMF1 KO | Cancer cell line | Male |
| CVCL_D1Q8 | Abcam K-562 PSMF1 KO | Cancer cell line | Female |
| CVCL_D2LU | Abcam Raji PSMF1 KO | Cancer cell line | Male |
| CVCL_TH36 | HAP1 PSMF1 (-) 1 | Cancer cell line | Male |
| CVCL_TH37 | HAP1 PSMF1 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00502970 | PHASE4 | COMPLETED | Short Course of Interferon Treatment in Patients With HCV Infection |
| NCT00632554 | PHASE4 | COMPLETED | The Efficacy of Three Months-prednisolone Therapy for Chronic Eosinophilic Pneumonia |
| NCT01179191 | PHASE4 | TERMINATED | Conversion to Embeda With Rescue Trial |
| NCT01968161 | PHASE4 | UNKNOWN | Investigator Initiated Study - Asenapine Early Psychosis |
| NCT02436980 | PHASE4 | COMPLETED | Premedication for ERCP With Midazolam or Tramadol |
| NCT03702361 | PHASE4 | COMPLETED | Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease |
| NCT06271538 | PHASE4 | RECRUITING | Evaluation of Efficacy of Skål Pro Powder on Symptoms of Irritable Bowel Syndrome |
| NCT06390436 | PHASE4 | NOT_YET_RECRUITING | Therapeutic Drug Monitoring-baSed adalimuMab De-escalatiOn in nOn-infecTious cHronic Uveitis |
| NCT06750471 | PHASE4 | ACTIVE_NOT_RECRUITING | Dupixent Study for Alternate Administration |
| NCT00096785 | PHASE3 | COMPLETED | Comparative Trial of Entecavir Versus Adefovir in the Treatment of Chronic Hepatitis B Infection |
| NCT00569595 | PHASE3 | COMPLETED | Improving Health Habits in Impoverished Populations |
| NCT00787956 | PHASE3 | COMPLETED | Internet Chronic Disease Self-Management Program for Australia |
| NCT00803244 | PHASE3 | COMPLETED | Safety and Efficacy on Phase III Study on 300 IR SLIT to Patients Suffering From Grass Pollen Rhinoconjunctivitis |
| NCT00813189 | PHASE3 | COMPLETED | Efficacy Study of Recombinant Growth Hormone on Muscle Function in Children Long-term Treated With Glucocorticoid |
| NCT00911287 | PHASE3 | COMPLETED | Oxymorphone Extended Release (ER) in Opioid-Naive Patients With Chronic Pain |
| NCT01237860 | PHASE3 | COMPLETED | Evaluation of the Safety and Performance of the NESS L300 Plus System |
| NCT01477281 | PHASE3 | UNKNOWN | Study to Evaluate the Efficacy and Tolerability of Venaflon Use in Reducing the Symptoms Caused by Chronic Venous Insufficiency When Compared With Daflon |
| NCT02137772 | PHASE3 | COMPLETED | Letermovir (MK-8228) Versus Placebo in the Prevention of Clinically-Significant Cytomegalovirus (CMV) Infection in Adult, CMV-Seropositive Allogeneic Hematopoietic Stem Cell Transplant Recipients (MK-8228-001) |
| NCT04007848 | PHASE3 | COMPLETED | Cobimetinib for BRAF-wild-type or Mutated Histiocytoses |
| NCT04264897 | PHASE3 | COMPLETED | Antecedent Metabolic Health and Metformin Aging Study |
| NCT04639310 | PHASE3 | TERMINATED | XEN496 (Ezogabine) in Children With KCNQ2 Developmental and Epileptic Encephalopathy |
| NCT04912856 | PHASE3 | TERMINATED | An Open-Label Extension of the Study XEN496 (Ezogabine) in Children With KCNQ2-DEE |
| NCT00003145 | PHASE2 | COMPLETED | Fludarabine Phosphate, Low-Dose Total-Body Irradiation, and Peripheral Blood Stem Cell Transplant Followed by Donor Lymphocyte Infusion in Treating Older Patients With Chronic Myeloid Leukemia |
| NCT00036738 | PHASE2 | COMPLETED | Fludarabine Phosphate and Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Acute Lymphoblastic Leukemia or Chronic Myelogenous Leukemia That Has Responded to Treatment With Imatinib Mesylate, Dasatinib, or Nilotinib |
| NCT00408252 | PHASE2 | TERMINATED | Efficacy of SU 011248 in Head And Neck Carcinoma |
| NCT00552461 | PHASE2 | COMPLETED | Prospective Trial of Rituximab for Primary Pulmonary Alveolar Proteinosis |
| NCT00795132 | PHASE2 | COMPLETED | Hematopoietic Cell Transplantation for Pediatric Patients With Hematologic Malignancies |
| NCT00889499 | PHASE2 | COMPLETED | Modulation of Central Hypersensitivity in Chronic Musculoskeletal Pain by Intravenous Tropisetron |
| NCT01047514 | PHASE2 | COMPLETED | Healthier Living Canada |
| NCT01047774 | PHASE2 | TERMINATED | The Effect of Soy Protein on Post- Breast Cancer Surgery Pain |
| NCT01215578 | PHASE2 | TERMINATED | Predictive Biomarkers of Response to Sunitinib in the Treatment of Poorly-differentiated NEURO-Endocrine Tumors |
| NCT01267253 | PHASE2 | COMPLETED | Brivanib Alaninate in Treating Patients With Persistent or Recurrent Cervical Cancer |
| NCT01325194 | PHASE2 | COMPLETED | CHemoImmunotherapy With Early Central Nervous System (CNS) Prophylaxis |
| NCT01326897 | PHASE2 | COMPLETED | Healthy Homes/Healthy Families |
| NCT01635270 | PHASE2 | COMPLETED | Phase 2 Study Evaluating Mid-position Strategy in Radiotherapy Treatment for Patients With a Locally Advanced Non-small Cell Lung Carcinoma |
| NCT01664663 | PHASE2 | TERMINATED | Phase II Randomized Study on Locally Advanced NSCLC Escalated Dose on Individual Basis Treatment With Radiochemotherapy |
| NCT01687777 | PHASE2 | UNKNOWN | Mensenchymal Stem Cell (MSC) Included in OrthADAPT Membrane for Rotator Cuff Tears Repair |
| NCT01737450 | PHASE2 | COMPLETED | Activity and Safety Study of BKM120 in Monotherapy in Patient With Metastatic Head and Neck Cancer Recurrent or Progressive |
| NCT01794845 | PHASE2 | TERMINATED | Cetuximab + Taxotere With Low Dose Fractionated Radiation for Head and Neck Carcinoma |
| NCT01884389 | PHASE2 | COMPLETED | Randomized Trial of an HIV Navigation Program for Early Palliative Care |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder with motor features
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): complex neurodevelopmental disorder with motor features, disease