HSPBP1
gene geneOn this page
Also known as FES1
Summary
HSPBP1 (HSPA (Hsp70) binding protein 1, HGNC:24989) is a protein-coding gene on chromosome 19q13.42, encoding Hsp70-binding protein 1 (Q9NZL4). Inhibits HSPA1A chaperone activity by changing the conformation of the ATP-binding domain of HSPA1A and interfering with ATP binding.
Enables molecular sequestering activity and ubiquitin protein ligase binding activity. Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process and positive regulation of protein ubiquitination. Is active in extracellular space.
Source: NCBI Gene 23640 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 78 total — 2 pathogenic
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_012267
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24989 |
| Approved symbol | HSPBP1 |
| Name | HSPA (Hsp70) binding protein 1 |
| Location | 19q13.42 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FES1 |
| Ensembl gene | ENSG00000133265 |
| Ensembl biotype | protein_coding |
| OMIM | 612939 |
| Entrez | 23640 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 24 protein_coding
ENST00000255631, ENST00000433386, ENST00000585698, ENST00000585927, ENST00000587551, ENST00000587922, ENST00000587959, ENST00000588971, ENST00000593263, ENST00000874509, ENST00000874510, ENST00000874511, ENST00000874512, ENST00000874513, ENST00000874514, ENST00000874515, ENST00000874516, ENST00000933732, ENST00000933733, ENST00000933734, ENST00000933735, ENST00000933736, ENST00000957929, ENST00000957930
RefSeq mRNA: 3 — MANE Select: NM_012267
NM_001130106, NM_001297600, NM_012267
CCDS: CCDS33111
Canonical transcript exons
ENST00000433386 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000699817 | 55277642 | 55277846 |
| ENSE00001175478 | 55265278 | 55265389 |
| ENSE00001175486 | 55265886 | 55265982 |
| ENSE00001175493 | 55266131 | 55266286 |
| ENSE00001175500 | 55274398 | 55274622 |
| ENSE00001179279 | 55279399 | 55279702 |
| ENSE00002835814 | 55280035 | 55280110 |
| ENSE00002951641 | 55262223 | 55262682 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 96.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.4712 / max 134.6519, expressed in 1811 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182770 | 31.0111 | 1808 |
| 182769 | 0.6902 | 226 |
| 182772 | 0.4765 | 232 |
| 182771 | 0.2934 | 143 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nucleus accumbens | UBERON:0001882 | 96.74 | gold quality |
| right uterine tube | UBERON:0001302 | 96.38 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.15 | gold quality |
| putamen | UBERON:0001874 | 96.01 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.09 | gold quality |
| apex of heart | UBERON:0002098 | 94.12 | gold quality |
| cingulate cortex | UBERON:0003027 | 93.97 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 93.79 | gold quality |
| amygdala | UBERON:0001876 | 93.74 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.59 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.31 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.29 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.04 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.27 | gold quality |
| neocortex | UBERON:0001950 | 91.96 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.96 | gold quality |
| telencephalon | UBERON:0001893 | 91.92 | gold quality |
| frontal cortex | UBERON:0001870 | 91.78 | gold quality |
| frontal lobe | UBERON:0016525 | 91.75 | gold quality |
| hypothalamus | UBERON:0001898 | 91.55 | gold quality |
| forebrain | UBERON:0001890 | 91.46 | gold quality |
| lower esophagus | UBERON:0013473 | 91.37 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.37 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.30 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.24 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 91.19 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.10 | gold quality |
| cerebral cortex | UBERON:0000956 | 91.06 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.01 | gold quality |
| bronchus | UBERON:0002185 | 90.97 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.15 |
| E-HCAD-5 | no | 2.24 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
23 targeting HSPBP1, 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-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-3682-3P | 99.58 | 67.63 | 865 |
| HSA-MIR-3911 | 99.38 | 66.95 | 1087 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-3138 | 98.41 | 67.53 | 744 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-4800-5P | 97.22 | 65.91 | 324 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
| HSA-MIR-4693-3P | 95.23 | 65.92 | 735 |
| HSA-MIR-542-5P | 87.47 | 60.42 | 76 |
Literature-anchored findings (GeneRIF, showing 25)
- Results report cooperative interactions involving Hsp70, Hsp40, and TPR1 that enhance Hsp70-dependent folding of chemically denatured substrates. (PMID:14503850)
- Detection of hsp70 may be used as the screening marker for diagnosis of polycyclic aromatic hydrocarbons (PAHs)-related lung cancer related lung cancer, and may supplement the diagnostic value of conventional cytology. (PMID:14761400)
- HspBP1 interferes with the CHIP-induced degradation of immature forms of the cystic fibrosis transmembrane conductance regulator (CFTR) and stimulates CFTR maturation. (PMID:15215316)
- BAG2 binds to the carboxyl terminus of Hsp70-interacting protein (CHIP) and provides a cochaperone-dependent regulatory mechanism for preventing unregulated ubiquitylation of misfolded proteins by CHIP (PMID:16169850)
- The results demonstrate that Hsp70 and HspBP1 are not coordinately regulated but provide evidence that an increase in the ratio of HspBP1 to Hsp70 correlates with apoptosis, in a similar way to reducing the amount of Hsp70. (PMID:16677834)
- Stress-induced heat shock protein 70 (Hsp70) effectively protects cells against ultraviol ray-induced apoptosis in melanocytes bu penetrating mitchondrial and lysosomal membranes. (PMID:16950797)
- Here, we report that upon the formation of huntingtin aggregates; endogenous cytosolic huntingtin, Hsc70/Hsp70 (heat shock protein and cognate protein of 70kDa) and syntaxin 1A become aggregate-centered. (PMID:17208201)
- that HspBP1, by antagonizing the prosurvival activity of Hsp70, sensitizes tumor cells to cathepsin-mediated cell death. (PMID:17855353)
- Association between endogenous LAP2alpha and Hsp70 in non-transfected cells was confirmed by co-immunoprecipitation. (PMID:18261988)
- The two chaperones, HSP72 and HSPBP1, interact both physically and functionally, leading to the activation of th EGFR-ERK1/2 signalling pathway. (PMID:18986301)
- Results indicate that low HspBP1 expression could be a marker of tumor aggressiveness. (PMID:18987994)
- Our data suggest that HIP may prevent inclusion formation by facilitating the constitutive HSC70 refolding cycle and possibly by preventing aggregation. (PMID:19183265)
- HspBP1 may play a role in tumor (dys)regulation of chaperone proteins (PMID:19659607)
- High gene expression of HspBP1 is associated with leukemia. (PMID:20694586)
- shown that HspBP1 binds Tag7 in the conditioned medium of tumor CSML0 cells, thereby preventing formation of the cytotoxic Tag7-Hsp70 complex (PMID:22037021)
- BAG-1M and HspBP1 had differential impacts on the dynamic composition of steroid receptor folding complexes (PMID:24454860)
- Oxidative stress, inducing formation of disulfide bond, can affect stability and conformational mobility of human HspB1. (PMID:24898092)
- our results clearly show that HspBP1 acts as an endogenous negative regulator of HIV-1 gene-expression and replication by suppressing NF-kappaB-mediated activation of viral transcription. (PMID:26538602)
- downregulation of Hsp70 and HspBP1 represents a unique feature of patients with preterm prelabor rupture of membranes (PMID:28497897)
- Findings indicate a critical role of HspBP1 in differential CHIP/Hsp70 activities in neuronal and glial cells and the greater neuronal vulnerability to misfolded proteins in neurodegenerative diseases. (PMID:28847953)
- Circulating HspBp1 is associated with progression of HIV infection and can be used as a new marker to predict the prognosis and management of HIV infection (PMID:30786116)
- The Co-Chaperone HspBP1 Is a Novel Component of Stress Granules that Regulates Their Formation. (PMID:32235396)
- HSPBP1 facilitates cellular RLR-mediated antiviral response by inhibiting the K48-linked ubiquitination of RIG-I. (PMID:33713958)
- HspBP1 is a dual function regulatory protein that controls both DNA repair and apoptosis in breast cancer cells. (PMID:35387978)
- The cochaperone HspBP1 binds to and inhibits Hsp70 activity. (PMID:9830037)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hspbp1 | ENSDARG00000102937 |
| mus_musculus | Hspbp1 | ENSMUSG00000063802 |
| rattus_norvegicus | Hspbp1 | ENSRNOG00000017795 |
| drosophila_melanogaster | CG10973 | FBGN0036306 |
Paralogs (1): SIL1 (ENSG00000120725)
Protein
Protein identifiers
Hsp70-binding protein 1 — Q9NZL4 (reviewed: Q9NZL4)
Alternative names: Heat shock protein-binding protein 1, Hsp70-binding protein 2, Hsp70-interacting protein 1, Hsp70-interacting protein 2
All UniProt accessions (7): Q9NZL4, K7EKM6, K7EL16, K7EMM7, K7EN20, K7EQQ0, K7ERT9
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits HSPA1A chaperone activity by changing the conformation of the ATP-binding domain of HSPA1A and interfering with ATP binding. Interferes with ubiquitination mediated by STUB1 and inhibits chaperone-assisted degradation of immature CFTR.
Subunit / interactions. Interacts with the ATP-binding domain of HSPA1A. Detected in a ternary complex containing STUB1, HSPA1A and HSPBP1. Interacts with PGLYRP1; this interaction blocks the cytotoxic activity of the PGLYRP1-HSPA1A complex.
Tissue specificity. Ubiquitous.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NZL4-1 | 1 | yes |
| Q9NZL4-2 | 2 | |
| Q9NZL4-3 | 3 |
RefSeq proteins (3): NP_001123578, NP_001284529, NP_036399* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR013918 | Nucleotide_exch_fac_Fes1 | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR050693 | SIL1/FES1/HPBP1 | Family |
Pfam: PF08609
UniProt features (36 total): helix 20, repeat 4, splice variant 3, sequence variant 2, modified residue 2, chain 1, sequence conflict 1, turn 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1XQR | X-RAY DIFFRACTION | 2.1 |
| 8X87 | X-RAY DIFFRACTION | 2.2 |
| 1XQS | X-RAY DIFFRACTION | 2.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NZL4-F1 | 84.36 | 0.68 |
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 (2): 351, 356
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 151 (showing top):
GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_PROTEIN_MATURATION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, HOSHIDA_LIVER_CANCER_LATE_RECURRENCE_DN, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_FOLDING, MORI_PRE_BI_LYMPHOCYTE_UP, CYTAGCAAY_UNKNOWN
GO Biological Process (3): protein folding (GO:0006457), positive regulation of protein ubiquitination (GO:0031398), positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)
GO Molecular Function (5): adenyl-nucleotide exchange factor activity (GO:0000774), enzyme inhibitor activity (GO:0004857), ubiquitin protein ligase binding (GO:0031625), molecular sequestering activity (GO:0140313), protein binding (GO:0005515)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), endoplasmic reticulum (GO:0005783)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular process | 1 |
| protein maturation | 1 |
| protein ubiquitination | 1 |
| regulation of protein ubiquitination | 1 |
| positive regulation of protein modification by small protein conjugation or removal | 1 |
| regulation of proteasomal ubiquitin-dependent protein catabolic process | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| positive regulation of proteasomal protein catabolic process | 1 |
| positive regulation of ubiquitin-dependent protein catabolic process | 1 |
| ATP binding | 1 |
| ADP binding | 1 |
| ATPase regulator activity | 1 |
| catalytic activity | 1 |
| enzyme regulator activity | 1 |
| molecular function inhibitor activity | 1 |
| ubiquitin-like protein ligase binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
4104 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HSPBP1 | HSPA4 | P34932 | 997 |
| HSPBP1 | HSPA8 | P11142 | 984 |
| HSPBP1 | DNAJB1 | P25685 | 942 |
| HSPBP1 | STUB1 | Q9UNE7 | 897 |
| HSPBP1 | HSP90AB1 | P08238 | 890 |
| HSPBP1 | HSP90AA1 | P07900 | 854 |
| HSPBP1 | UBE2D1 | P51668 | 837 |
| HSPBP1 | STIP1 | P31948 | 782 |
| HSPBP1 | BRSK1 | Q8TDC3 | 760 |
| HSPBP1 | GRPEL1 | Q9HAV7 | 755 |
| HSPBP1 | TRIM21 | P19474 | 745 |
| HSPBP1 | BAG1 | Q99933 | 740 |
| HSPBP1 | DNAJA1 | P31689 | 683 |
| HSPBP1 | HYOU1 | Q9Y4L1 | 667 |
| HSPBP1 | HSPA1A | P08107 | 629 |
IntAct
124 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK2B | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.960 |
| HSPA8 | HSPBP1 | psi-mi:“MI:0915”(physical association) | 0.930 |
| HSPBP1 | HSPA8 | psi-mi:“MI:0915”(physical association) | 0.930 |
| HSPBP1 | HSPA2 | psi-mi:“MI:0915”(physical association) | 0.920 |
| HSPA2 | HSPBP1 | psi-mi:“MI:0915”(physical association) | 0.920 |
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| HSPA8 | BAG2 | psi-mi:“MI:2364”(proximity) | 0.860 |
| GMNN | MCIDAS | psi-mi:“MI:0914”(association) | 0.770 |
| HSPA8 | GAK | psi-mi:“MI:0914”(association) | 0.760 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| VCP | UBXN8 | psi-mi:“MI:0914”(association) | 0.690 |
| HSPBP1 | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.670 |
| NOTCH2NLA | HSPBP1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HSF1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| HMCES | HSPA8 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (256): HSPBP1 (Two-hybrid), HSPBP1 (Two-hybrid), NOTCH2NL (Two-hybrid), HSPA8 (Affinity Capture-MS), HSPA6 (Affinity Capture-MS), EDRF1 (Affinity Capture-MS), NT5C2 (Affinity Capture-MS), ELF2 (Affinity Capture-MS), HSPBP1 (Two-hybrid), HSPBP1 (Two-hybrid), ACTR2 (Co-fractionation), HSPBP1 (Co-fractionation), HSPBP1 (Co-fractionation), HSPBP1 (Co-fractionation), HSPBP1 (Co-fractionation)
ESM2 similar proteins: A5A779, A6NLP5, A8E7I5, C5IJB0, F1MX48, I3L5V6, M0RDU0, O35465, O95801, P23610, P36915, P36916, P97452, Q00558, Q08602, Q0P5H9, Q14137, Q14318, Q17QX2, Q2TBQ9, Q2YD98, Q3B7U9, Q3SZV0, Q4R588, Q4R8D2, Q5EA80, Q5NVK5, Q5R8E2, Q5RA07, Q5TM59, Q66H45, Q68G30, Q6AY79, Q6IMX7, Q6P597, Q6P9Z4, Q6SZW1, Q7YR35, Q810A3, Q8C3I8
Diamond homologs: A1DLW4, A2R4I6, A3LUY1, O43030, P0CN68, P0CN69, P38260, Q0CH70, Q0V4C4, Q1E3S4, Q2GXZ7, Q2U9E2, Q4I624, Q4P7F2, Q4R588, Q4WDH3, Q59NN8, Q5AYT7, Q6BLA1, Q6C239, Q6CNM7, Q6FM01, Q6IMX7, Q6NUA7, Q75B89, Q99P31, Q9C239, Q9NZL4, Q08199, Q32KV6, Q6BTV5, Q6CKV0, Q6P6S4, Q9EPK6, Q9H173, Q9VBV5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 113 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 |
|---|---|---|---|
| Attenuation phase | 5 | 25.5× | 2e-04 |
| Cellular response to heat stress | 5 | 24.6× | 2e-04 |
| Dengue Virus Genome Translation and Replication | 5 | 19.8× | 4e-04 |
| Aggrephagy | 6 | 18.6× | 1e-04 |
| HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand | 7 | 16.9× | 4e-05 |
| Regulation of HSF1-mediated heat shock response | 9 | 15.7× | 3e-06 |
| Autophagy | 6 | 11.1× | 1e-03 |
| The role of GTSE1 in G2/M progression after G2 checkpoint | 5 | 10.1× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein refolding | 6 | 37.1× | 9e-06 |
| cellular response to heat | 6 | 20.4× | 2e-04 |
| response to unfolded protein | 5 | 14.9× | 3e-03 |
| protein folding | 9 | 9.2× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
78 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 59 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 564606 | GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3 | Pathogenic |
| 59116 | GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 | Pathogenic |
SpliceAI
1400 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:55265286:C:CA | donor_gain | 1.0000 |
| 19:55265385:CCAGG:C | acceptor_gain | 1.0000 |
| 19:55265386:CAGGC:C | acceptor_gain | 1.0000 |
| 19:55265388:GG:G | acceptor_gain | 1.0000 |
| 19:55265390:C:CC | acceptor_gain | 1.0000 |
| 19:55266284:GACC:G | acceptor_loss | 1.0000 |
| 19:55266285:ACC:A | acceptor_loss | 1.0000 |
| 19:55266286:CCT:C | acceptor_loss | 1.0000 |
| 19:55266287:C:CA | acceptor_loss | 1.0000 |
| 19:55274393:CTCA:C | donor_loss | 1.0000 |
| 19:55274394:TCA:T | donor_loss | 1.0000 |
| 19:55274395:CA:C | donor_loss | 1.0000 |
| 19:55274396:A:AC | donor_gain | 1.0000 |
| 19:55274396:A:AT | donor_loss | 1.0000 |
| 19:55274397:C:CC | donor_gain | 1.0000 |
| 19:55274397:C:CG | donor_loss | 1.0000 |
| 19:55274397:CAG:C | donor_gain | 1.0000 |
| 19:55274397:CAGG:C | donor_gain | 1.0000 |
| 19:55274629:C:CT | acceptor_gain | 1.0000 |
| 19:55274631:C:CT | acceptor_gain | 1.0000 |
| 19:55277637:GGTAC:G | donor_loss | 1.0000 |
| 19:55277638:GTACC:G | donor_loss | 1.0000 |
| 19:55277639:TACCT:T | donor_loss | 1.0000 |
| 19:55277640:AC:A | donor_loss | 1.0000 |
| 19:55277641:CCTGC:C | donor_loss | 1.0000 |
| 19:55277842:CGCCT:C | acceptor_gain | 1.0000 |
| 19:55277845:CT:C | acceptor_gain | 1.0000 |
| 19:55277847:C:CC | acceptor_gain | 1.0000 |
| 19:55277848:T:C | acceptor_loss | 1.0000 |
| 19:55277855:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000144911 (19:55280969 G>A,T), RS1000229684 (19:55269832 C>T), RS1000419104 (19:55270285 T>A), RS1000434554 (19:55263713 C>G,T), RS1000619537 (19:55268804 G>A), RS1000709305 (19:55275018 A>C), RS1000751749 (19:55269072 A>G,T), RS1000819574 (19:55270741 TCCACACATC>T), RS1000823688 (19:55274304 T>C), RS1000876135 (19:55274465 C>G,T), RS1001022531 (19:55278967 C>G), RS1001061472 (19:55279493 G>A), RS1001496914 (19:55276719 G>C), RS1001547872 (19:55276917 C>A,T), RS1001554938 (19:55279892 T>C)
Disease associations
OMIM: gene MIM:612939 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010653_3 | Thyroid stimulating hormone levels | 1.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724653 (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
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 |
|---|---|---|---|---|
| 6.56 | Kd | 273 | nM | MOLIBRESIB |
| 6.16 | IC50 | 690 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 7 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 |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179230: Binding affinity against HSPBP1 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.2730 | uM |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment | 1 |
| bisphenol A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | increases oxidation, increases abundance, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Isoniazid | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | increases oxidation, increases abundance, affects cotreatment | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697673 | Binding | Inhibition of HSPBP1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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.