SAP30BP
gene geneOn this page
Also known as HCNGPHTRGHTRP
Summary
SAP30BP (SAP30 binding protein, HGNC:30785) is a protein-coding gene on chromosome 17q25.1, encoding SAP30-binding protein (Q9UHR5). Plays a role in transcriptional repression by promoting histone deacetylase activity, leading to deacetylation of histone H3. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
Predicted to be involved in regulation of DNA-templated transcription. Located in intermediate filament cytoskeleton and nucleoplasm.
Source: NCBI Gene 29115 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 39 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_013260
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30785 |
| Approved symbol | SAP30BP |
| Name | SAP30 binding protein |
| Location | 17q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HCNGP, HTRG, HTRP |
| Ensembl gene | ENSG00000161526 |
| Ensembl biotype | protein_coding |
| OMIM | 610218 |
| Entrez | 29115 |
Gene structure
Transcript identifiers
Ensembl transcripts: 33 — 13 protein_coding, 10 retained_intron, 7 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined
ENST00000293208, ENST00000355423, ENST00000542343, ENST00000577292, ENST00000578288, ENST00000578354, ENST00000578756, ENST00000578909, ENST00000579005, ENST00000579864, ENST00000579877, ENST00000580322, ENST00000580484, ENST00000580601, ENST00000581207, ENST00000581385, ENST00000582022, ENST00000583063, ENST00000583170, ENST00000583329, ENST00000583536, ENST00000583737, ENST00000584240, ENST00000584557, ENST00000584667, ENST00000584861, ENST00000868399, ENST00000868400, ENST00000868401, ENST00000868402, ENST00000868403, ENST00000920522, ENST00000963357
RefSeq mRNA: 3 — MANE Select: NM_013260
NM_001301839, NM_001301855, NM_013260
CCDS: CCDS11726, CCDS77115
Canonical transcript exons
ENST00000584667 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001300697 | 75706340 | 75708059 |
| ENSE00002717080 | 75667338 | 75667478 |
| ENSE00003459183 | 75706008 | 75706092 |
| ENSE00003481792 | 75702480 | 75702571 |
| ENSE00003546434 | 75668516 | 75668625 |
| ENSE00003572997 | 75693440 | 75693482 |
| ENSE00003574700 | 75703311 | 75703371 |
| ENSE00003581403 | 75703808 | 75703859 |
| ENSE00003605813 | 75671816 | 75671863 |
| ENSE00003689414 | 75699783 | 75699871 |
| ENSE00003788906 | 75704756 | 75704814 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 98.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.9591 / max 1506.8661, expressed in 1822 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 162765 | 45.1150 | 1822 |
| 162766 | 0.6270 | 246 |
| 162770 | 0.1343 | 68 |
| 162771 | 0.0828 | 36 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 98.36 | gold quality |
| peripheral nervous system | UBERON:0000010 | 97.67 | gold quality |
| nerve | UBERON:0001021 | 97.67 | gold quality |
| tibial nerve | UBERON:0001323 | 97.67 | gold quality |
| granulocyte | CL:0000094 | 97.35 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.24 | gold quality |
| monocyte | CL:0000576 | 97.21 | gold quality |
| skin of leg | UBERON:0001511 | 96.99 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.86 | gold quality |
| mononuclear cell | CL:0000842 | 96.79 | gold quality |
| tibial artery | UBERON:0007610 | 96.78 | gold quality |
| popliteal artery | UBERON:0002250 | 96.77 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.76 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.76 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.75 | gold quality |
| leukocyte | CL:0000738 | 96.73 | gold quality |
| ectocervix | UBERON:0012249 | 96.64 | gold quality |
| lower esophagus | UBERON:0013473 | 96.63 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.63 | gold quality |
| endocervix | UBERON:0000458 | 96.62 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.61 | gold quality |
| ventricular zone | UBERON:0003053 | 96.60 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.51 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.51 | gold quality |
| body of uterus | UBERON:0009853 | 96.45 | gold quality |
| left uterine tube | UBERON:0001303 | 96.34 | gold quality |
| body of stomach | UBERON:0001161 | 96.29 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.26 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.26 | gold quality |
| aorta | UBERON:0000947 | 96.22 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.40 |
| E-MTAB-6379 | no | 387.70 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXC1
miRNA regulators (miRDB)
63 targeting SAP30BP, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-12132 | 99.47 | 68.90 | 1341 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-6513-5P | 99.43 | 67.81 | 1071 |
| HSA-MIR-532-3P | 99.34 | 65.76 | 1195 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-491-5P | 99.13 | 65.98 | 1468 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 7)
- HTRP is involved in cellular co-repressors (PMID:15496587)
- The results indicate that HTRP could inhibit the transcription of a viral promoter, whose interaction with SAP30 synergistically affects transcriptional inhibition of the herpes simplex virus type 1 genes, and is related to HDAC enzyme activity. (PMID:21221920)
- Two SNPs were significantly associated with rotator cuff tearing, residing in SAP30BP on chromosome 17 and SASH1 on chromosome 6. (PMID:26350878)
- we proposed that four newly identified peripheral blood mononuclear cells-derived genes( DHRS3, TTC38, SAP30BP and LPIN2 )could be integrated with previously reported rheumatoid arthritis (RA)-associated genes to monitor and/or diagnose RA. (PMID:28371410)
- SAP30BP gene is associated with the susceptibility of rotator cuff tear: a case-control study based on Han Chinese population. (PMID:32843068)
- Association between the rs820218 Variant within the SAP30BP Gene and Rotator Cuff Rupture in an Amazonian Population. (PMID:36833294)
- SAP30BP interacts with RBM17/SPF45 to promote splicing in a subset of human short introns. (PMID:38065098)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sap30bp | ENSDARG00000031261 |
| mus_musculus | Sap30bp | ENSMUSG00000020755 |
| rattus_norvegicus | Sap30bp | ENSRNOG00000005482 |
| drosophila_melanogaster | CG2063 | FBGN0033400 |
| caenorhabditis_elegans | WBGENE00022057 |
Protein
Protein identifiers
SAP30-binding protein — Q9UHR5 (reviewed: Q9UHR5)
Alternative names: Transcriptional regulator protein HCNGP
All UniProt accessions (11): Q9UHR5, F5H478, J3KRR6, J3KRU5, J3KS14, J3QKW0, J3QLH3, J3QLM2, J3QQJ0, J3QS04, X6R3T8
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in transcriptional repression by promoting histone deacetylase activity, leading to deacetylation of histone H3. Acts as a regulator of pre-mRNA splicing by facilitating assembly of the cyclin-L-CDK11 cyclin-dependent protein kinase complex, thereby promoting phosphorylation of SF3B1. May be involved in the regulation of beta-2-microglobulin genes. (Microbial infection) Involved in transcriptional repression of HHV-1 genes TK and gC.
Subunit / interactions. Interacts with histone deacetylase complex subunit SAP30. Interacts with CDK11 (CDK11A and/or CDK11B), CCNL1 and CCNL2.
Subcellular location. Nucleus. Nucleus speckle.
Induction. (Microbial infection) In fibroblasts by binding of HSV1.
Similarity. Belongs to the HCNGP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UHR5-1 | 1 | yes |
| Q9UHR5-2 | 2 |
RefSeq proteins (3): NP_001288768, NP_001288784, NP_037392* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012479 | SAP30BP | Family |
Pfam: PF07818
UniProt features (19 total): modified residue 5, cross-link 4, sequence conflict 4, compositionally biased region 3, chain 1, region of interest 1, splice variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9QKZ | ELECTRON MICROSCOPY | 2.3 |
| 9QKT | ELECTRON MICROSCOPY | 2.4 |
| 9QL1 | ELECTRON MICROSCOPY | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UHR5-F1 | 66.32 | 0.19 |
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 (9): 95, 220, 304, 305, 18, 22, 43, 52, 113
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-427413 | NoRC negatively regulates rRNA expression |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-5250941 | Negative epigenetic regulation of rRNA expression |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 133 (showing top):
GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, WANG_LMO4_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_RNA_SPLICING, CREB_Q2_01, CREB_Q3, GOBP_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_RESPONSE_TO_VIRUS, GOBP_REGULATION_OF_RNA_SPLICING, OSMAN_BLADDER_CANCER_DN, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, BOYAULT_LIVER_CANCER_SUBCLASS_G3_UP
GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), response to virus (GO:0009615)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), intermediate filament cytoskeleton (GO:0045111)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Negative epigenetic regulation of rRNA expression | 1 |
| Gene expression (Transcription) | 1 |
| Epigenetic regulation of gene expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| response to other organism | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
1498 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SAP30BP | SAP30 | O75446 | 585 |
| SAP30BP | NCOR1 | O75376 | 547 |
| SAP30BP | SASH1 | O94885 | 506 |
| SAP30BP | RBL1 | P28749 | 439 |
| SAP30BP | LAPTM4A | Q15012 | 430 |
| SAP30BP | SART3 | Q15020 | 419 |
| SAP30BP | IWS1 | Q96ST2 | 386 |
| SAP30BP | ZSWIM7 | Q19AV6 | 383 |
| SAP30BP | PPP6R3 | Q5H9R7 | 378 |
| SAP30BP | HIP1R | O75146 | 373 |
| SAP30BP | FAU | P35544 | 360 |
| SAP30BP | ZNF530 | Q6P9A1 | 356 |
| SAP30BP | OR4C46 | A6NHA9 | 355 |
| SAP30BP | FZR1 | Q9UM11 | 342 |
| SAP30BP | NCKAP5L | Q9HCH0 | 336 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SAP30BP | PUF60 | psi-mi:“MI:0915”(physical association) | 0.900 |
| PUF60 | SAP30BP | psi-mi:“MI:0915”(physical association) | 0.900 |
| SAP30BP | CCNL1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| SAP30BP | FHL3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| FHL3 | SAP30BP | psi-mi:“MI:0915”(physical association) | 0.720 |
| SAP30BP | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TFIP11 | SAP30BP | psi-mi:“MI:0915”(physical association) | 0.670 |
| CDK11B | CDC37 | psi-mi:“MI:0914”(association) | 0.640 |
| GOLGA2 | SAP30BP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAP30BP | THAP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| THAP1 | SAP30BP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAP30BP | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRKAR1B | SAP30BP | psi-mi:“MI:0915”(physical association) | 0.560 |
| OGT | SAP30BP | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDK11A | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.530 |
| SAP30BP | E7 | psi-mi:“MI:0915”(physical association) | 0.490 |
| USP7 | SAP30BP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (156): SAP30BP (Affinity Capture-MS), SAP30BP (Two-hybrid), SAP30BP (Two-hybrid), SAP30BP (Two-hybrid), SAP30BP (Two-hybrid), THAP1 (Two-hybrid), SAP30BP (Affinity Capture-RNA), SAP30BP (Affinity Capture-RNA), SAP30BP (Affinity Capture-RNA), SAP30BP (Two-hybrid), SAP30BP (Co-fractionation), SAP30BP (Affinity Capture-MS), SAP30BP (Proximity Label-MS), SAP30BP (Two-hybrid), SAP30BP (Affinity Capture-MS)
ESM2 similar proteins: A0JPM9, A2AQ19, O43395, O75391, O75822, P04973, P09496, P29084, P29540, Q02614, Q0VCU8, Q13123, Q15650, Q2HJ41, Q2KIA6, Q2KJF9, Q3MHJ0, Q3UGC7, Q5BK07, Q5I0B5, Q5NVI3, Q5R5F1, Q5R8D1, Q5RAD5, Q5RE03, Q5ZJ85, Q5ZJ97, Q5ZK25, Q5ZKA4, Q66HG8, Q66JS6, Q6GMH0, Q6INR1, Q6P320, Q7SXU0, Q7SYJ9, Q7TNE3, Q8BM39, Q91WE2, Q922U1
Diamond homologs: Q02614, Q9UHR5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 60 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 |
|---|---|---|---|
| mRNA Polyadenylation | 5 | 9.3× | 3e-03 |
| mRNA Splicing - Major Pathway | 8 | 9.3× | 7e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 5 | 8.7× | 4e-03 |
| Metabolism of RNA | 7 | 6.2× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 7 | 49.3× | 5e-08 |
| mRNA splicing, via spliceosome | 6 | 9.6× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2501 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:75667319:G:GT | donor_gain | 1.0000 |
| 17:75667474:GGCTG:G | donor_gain | 1.0000 |
| 17:75667475:GCTG:G | donor_gain | 1.0000 |
| 17:75667475:GCTGG:G | donor_gain | 1.0000 |
| 17:75667477:TGG:T | donor_loss | 1.0000 |
| 17:75667479:G:GG | donor_gain | 1.0000 |
| 17:75668498:T:TA | acceptor_gain | 1.0000 |
| 17:75668506:A:AG | acceptor_gain | 1.0000 |
| 17:75668507:A:AG | acceptor_gain | 1.0000 |
| 17:75668508:C:G | acceptor_gain | 1.0000 |
| 17:75668511:TTCA:T | acceptor_loss | 1.0000 |
| 17:75668512:TCA:T | acceptor_loss | 1.0000 |
| 17:75668513:CA:C | acceptor_loss | 1.0000 |
| 17:75668514:A:AG | acceptor_gain | 1.0000 |
| 17:75668514:AGAG:A | acceptor_gain | 1.0000 |
| 17:75668515:G:GG | acceptor_gain | 1.0000 |
| 17:75668515:GA:G | acceptor_gain | 1.0000 |
| 17:75668515:GAGG:G | acceptor_gain | 1.0000 |
| 17:75668515:GAGGA:G | acceptor_gain | 1.0000 |
| 17:75668622:GTCG:G | donor_gain | 1.0000 |
| 17:75668626:G:GG | donor_gain | 1.0000 |
| 17:75668626:GTA:G | donor_loss | 1.0000 |
| 17:75668627:T:A | donor_loss | 1.0000 |
| 17:75693438:AG:A | acceptor_gain | 1.0000 |
| 17:75693439:GG:G | acceptor_gain | 1.0000 |
| 17:75693479:GTGG:G | donor_gain | 1.0000 |
| 17:75693480:TGG:T | donor_gain | 1.0000 |
| 17:75693481:GG:G | donor_gain | 1.0000 |
| 17:75693481:GGG:G | donor_gain | 1.0000 |
| 17:75693482:GG:G | donor_gain | 1.0000 |
AlphaMissense
2027 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:75699854:T:C | C127R | 1.000 |
| 17:75702496:T:C | L138P | 1.000 |
| 17:75702533:C:A | N150K | 1.000 |
| 17:75702533:C:G | N150K | 1.000 |
| 17:75702541:T:A | I153N | 1.000 |
| 17:75702541:T:G | I153S | 1.000 |
| 17:75702544:A:C | Q154P | 1.000 |
| 17:75702553:A:T | K157I | 1.000 |
| 17:75702554:A:C | K157N | 1.000 |
| 17:75702554:A:T | K157N | 1.000 |
| 17:75702558:T:C | F159L | 1.000 |
| 17:75702559:T:C | F159S | 1.000 |
| 17:75702559:T:G | F159C | 1.000 |
| 17:75702560:T:A | F159L | 1.000 |
| 17:75702560:T:G | F159L | 1.000 |
| 17:75702562:G:C | R160P | 1.000 |
| 17:75702564:A:G | N161D | 1.000 |
| 17:75702566:C:A | N161K | 1.000 |
| 17:75702566:C:G | N161K | 1.000 |
| 17:75702567:C:A | P162T | 1.000 |
| 17:75702567:C:T | P162S | 1.000 |
| 17:75702568:C:A | P162H | 1.000 |
| 17:75703313:T:A | I164N | 1.000 |
| 17:75703313:T:C | I164T | 1.000 |
| 17:75703313:T:G | I164S | 1.000 |
| 17:75703315:T:C | Y165H | 1.000 |
| 17:75703315:T:G | Y165D | 1.000 |
| 17:75703321:A:G | K167E | 1.000 |
| 17:75703325:T:A | L168Q | 1.000 |
| 17:75703325:T:C | L168P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000008003 (17:75708133 C>A,T), RS1000013488 (17:75679232 G>A), RS1000222606 (17:75707237 A>C), RS1000256498 (17:75685025 G>A,C), RS1000278223 (17:75667385 A>T), RS1000309258 (17:75667610 G>T), RS1000387719 (17:75700641 A>C), RS1000612496 (17:75668682 T>C), RS1000613761 (17:75707040 T>C,G), RS1000645018 (17:75668999 T>C), RS1000725901 (17:75667867 G>T), RS1000771397 (17:75702116 A>C,G), RS1000799846 (17:75690517 C>G), RS1000824873 (17:75701265 C>T), RS1000972172 (17:75672814 G>A,C)
Disease associations
OMIM: gene MIM:610218 | 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 |
|---|---|---|
| GCST003115_1 | Rotator cuff tears | 4.000000e-09 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725127 (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 |
|---|---|---|---|---|
| 7.01 | Kd | 98 | nM | MOLIBRESIB |
| 6.80 | IC50 | 160 | 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 | 2179167: Binding affinity against SAP30BP (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.0980 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| beta-lapachone | increases expression, decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| coumarin | decreases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| abrine | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects splicing | 1 |
| Methapyrilene | increases methylation | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Quercetin | increases phosphorylation | 1 |
| Silver | 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 |
|---|---|---|---|
| CHEMBL5697242 | Binding | Inhibition of SAP30BP (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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): rotator cuff syndrome