RPAP1
gene geneOn this page
Also known as DKFZP727M111KIAA1403MGC858FLJ12732
Summary
RPAP1 (RNA polymerase II associated protein 1, HGNC:24567) is a protein-coding gene on chromosome 15q15.1, encoding RNA polymerase II-associated protein 1 (Q9BWH6). Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. It is a common-essential gene (DepMap: required in 99.7% of cancer cell lines).
This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones.
Source: NCBI Gene 26015 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 242 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.7% of screened cell lines (common-essential)
- MANE Select transcript:
NM_015540
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24567 |
| Approved symbol | RPAP1 |
| Name | RNA polymerase II associated protein 1 |
| Location | 15q15.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP727M111, KIAA1403, MGC858, FLJ12732 |
| Ensembl gene | ENSG00000103932 |
| Ensembl biotype | protein_coding |
| OMIM | 611475 |
| Entrez | 26015 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 22 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000304330, ENST00000561603, ENST00000561631, ENST00000562303, ENST00000563293, ENST00000564934, ENST00000565035, ENST00000565167, ENST00000566863, ENST00000567866, ENST00000568413, ENST00000569829, ENST00000867487, ENST00000867488, ENST00000867489, ENST00000867490, ENST00000867491, ENST00000867492, ENST00000867493, ENST00000867494, ENST00000867495, ENST00000912250, ENST00000912251, ENST00000912252, ENST00000912253, ENST00000912254, ENST00000912255, ENST00000912256, ENST00000970347
RefSeq mRNA: 1 — MANE Select: NM_015540
NM_015540
CCDS: CCDS10079
Canonical transcript exons
ENST00000304330 — 25 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000676700 | 41523771 | 41523972 |
| ENSE00000676711 | 41527423 | 41527605 |
| ENSE00000676714 | 41527860 | 41528027 |
| ENSE00000676724 | 41536129 | 41536218 |
| ENSE00000676726 | 41536945 | 41537201 |
| ENSE00000884062 | 41522765 | 41522960 |
| ENSE00000931039 | 41524991 | 41525148 |
| ENSE00001152542 | 41534714 | 41534935 |
| ENSE00001152548 | 41536501 | 41536649 |
| ENSE00001206125 | 41527167 | 41527301 |
| ENSE00001206176 | 41526898 | 41527068 |
| ENSE00002627228 | 41544219 | 41544257 |
| ENSE00003487623 | 41531023 | 41531202 |
| ENSE00003504096 | 41520391 | 41521147 |
| ENSE00003522540 | 41528235 | 41528336 |
| ENSE00003527930 | 41521738 | 41521880 |
| ENSE00003539757 | 41523245 | 41523354 |
| ENSE00003591135 | 41517798 | 41517857 |
| ENSE00003607851 | 41529470 | 41529568 |
| ENSE00003653294 | 41529864 | 41529979 |
| ENSE00003664868 | 41524096 | 41524254 |
| ENSE00003671207 | 41517176 | 41517691 |
| ENSE00003674625 | 41522098 | 41522250 |
| ENSE00003691075 | 41518006 | 41518182 |
| ENSE00003788199 | 41535512 | 41535632 |
Expression profiles
Bgee: expression breadth ubiquitous, 194 present calls, max score 89.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9423 / max 81.2498, expressed in 1741 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 149528 | 6.9423 | 1741 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 89.83 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.59 | gold quality |
| apex of heart | UBERON:0002098 | 88.51 | gold quality |
| muscle of leg | UBERON:0001383 | 88.02 | gold quality |
| ventricular zone | UBERON:0003053 | 87.39 | gold quality |
| sural nerve | UBERON:0015488 | 86.34 | gold quality |
| muscle organ | UBERON:0001630 | 86.30 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 86.30 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.25 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.20 | gold quality |
| ganglionic eminence | UBERON:0004023 | 86.06 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 85.49 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.05 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 84.51 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.46 | gold quality |
| cortical plate | UBERON:0005343 | 84.39 | gold quality |
| right adrenal gland | UBERON:0001233 | 84.13 | gold quality |
| lower esophagus | UBERON:0013473 | 84.11 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.10 | gold quality |
| heart left ventricle | UBERON:0002084 | 83.99 | gold quality |
| right frontal lobe | UBERON:0002810 | 83.96 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 83.94 | silver quality |
| prefrontal cortex | UBERON:0000451 | 83.86 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 83.81 | gold quality |
| body of stomach | UBERON:0001161 | 83.75 | gold quality |
| skin of leg | UBERON:0001511 | 83.66 | gold quality |
| cardiac ventricle | UBERON:0002082 | 83.61 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 83.53 | gold quality |
| esophagus | UBERON:0001043 | 83.20 | gold quality |
| right ovary | UBERON:0002118 | 83.19 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.08 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): STAT3
miRNA regulators (miRDB)
14 targeting RPAP1, 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-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-1197 | 99.70 | 67.75 | 1027 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-887-5P | 98.82 | 65.90 | 1347 |
| HSA-MIR-1267 | 98.24 | 69.05 | 837 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-4700-3P | 97.74 | 68.64 | 1014 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-1287-5P | 96.80 | 65.30 | 743 |
| HSA-MIR-6828-3P | 96.06 | 67.61 | 1155 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.7% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- Data report the purification of RNA polymerase II-associated protein 1 (RPAP1), a 153-kDa polypeptide of unknown function. (PMID:15282305)
- SII is important for preventing cellular death due to oxidative DNA damage, assisting RNAPII to bypass 8-oxoG (PMID:17374514)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rpap1 | ENSDARG00000075072 |
| mus_musculus | Rpap1 | ENSMUSG00000034032 |
| rattus_norvegicus | Rpap1 | ENSRNOG00000005483 |
| drosophila_melanogaster | CG32104 | FBGN0052104 |
Protein
Protein identifiers
RNA polymerase II-associated protein 1 — Q9BWH6 (reviewed: Q9BWH6)
All UniProt accessions (5): Q9BWH6, H3BPM3, H3BPY8, H3BRE8, H3BTJ6
UniProt curated annotations — full annotation on UniProt →
Function. Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. Required for interaction of the RNA polymerase II complex with acetylated histone H3.
Subunit / interactions. Part of an RNA polymerase II complex that contains POLR2A, POLR2B, POLR2C, POLR2D, POLR2E, POLR2F, POLR2G, POLR2H, POLR2I, POLR2J, POLR2K, POLR2L, RPAP1, FCP1 plus the general transcription factors TFIIB and TFIIF.
Subcellular location. Nucleus.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the RPAP1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BWH6-1 | 1 | yes |
| Q9BWH6-2 | 2 | |
| Q9BWH6-3 | 3 |
RefSeq proteins (1): NP_056355* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013929 | RPAP1_C | Domain |
| IPR013930 | RPAP1_N | Domain |
| IPR039913 | RPAP1/Rba50 | Family |
| IPR057989 | TPR_RPAP1/MINIYO-like | Domain |
Pfam: PF08620, PF08621, PF25766
UniProt features (22 total): sequence variant 7, region of interest 4, modified residue 3, splice variant 3, compositionally biased region 3, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BWH6-F1 | 75.03 | 0.26 |
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 (3): 1121, 72, 321
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 85 (showing top):
MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, ICHIBA_GRAFT_VERSUS_HOST_DISEASE_35D_DN, GOCC_RNA_POLYMERASE_COMPLEX, MODULE_207, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, GOCC_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, NUYTTEN_EZH2_TARGETS_DN, GOCC_TRANSFERASE_COMPLEX, SCGGAAGY_ELK1_02, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, PASINI_SUZ12_TARGETS_UP, MTF1_Q4, MTOR_UP.N4.V1_UP, CIITA_TARGET_GENES
GO Biological Process (1): transcription by RNA polymerase II (GO:0006366)
GO Molecular Function (4): DNA binding (GO:0003677), nucleotidyltransferase activity (GO:0016779), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (2): DNA-directed RNA polymerase complex (GO:0000428), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 1 |
| nucleic acid binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| binding | 1 |
| catalytic activity | 1 |
| RNA polymerase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
646 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPAP1 | GPN1 | Q9HCN4 | 968 |
| RPAP1 | RPAP2 | Q8IXW5 | 932 |
| RPAP1 | RPAP3 | Q9H6T3 | 930 |
| RPAP1 | POLR2J | P52435 | 865 |
| RPAP1 | RUVBL1 | P82276 | 852 |
| RPAP1 | INTS3 | Q68E01 | 810 |
| RPAP1 | RUVBL2 | Q9Y230 | 802 |
| RPAP1 | PFDN6 | O15212 | 776 |
| RPAP1 | MED17 | Q9NVC6 | 766 |
| RPAP1 | GPN2 | Q9H9Y4 | 724 |
| RPAP1 | GPN3 | Q9UHW5 | 691 |
| RPAP1 | POLR2C | P19387 | 558 |
| RPAP1 | SAXO2 | Q658L1 | 475 |
| RPAP1 | RNF41 | Q9H4P4 | 454 |
| RPAP1 | NDUFAF1 | Q9Y375 | 453 |
IntAct
75 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POLR2J | POLR1C | psi-mi:“MI:0914”(association) | 0.830 |
| RPAP1 | POLR2L | psi-mi:“MI:0915”(physical association) | 0.740 |
| POLR2L | RPAP1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| POLR2C | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| POLR2J | POLR2D | psi-mi:“MI:0914”(association) | 0.730 |
| POLR2L | RCCD1 | psi-mi:“MI:0914”(association) | 0.640 |
| GPN2 | POLR2B | psi-mi:“MI:0914”(association) | 0.640 |
| POLR2L | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| RPAP1 | psi-mi:“MI:0915”(physical association) | 0.550 | |
| C1orf94 | USO1 | psi-mi:“MI:0914”(association) | 0.550 |
| POLR2J | SUPT5H | psi-mi:“MI:0914”(association) | 0.530 |
| POLR1C | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| GPN1 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| POLR2M | BIN1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPN2 | POLR2C | psi-mi:“MI:0914”(association) | 0.530 |
| POLR2J | MED14 | psi-mi:“MI:0914”(association) | 0.530 |
| POT1 | RPAP1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| RPAP1 | TERF2IP | psi-mi:“MI:0915”(physical association) | 0.370 |
| POLK | TIA1 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA8 | PPP6C | psi-mi:“MI:0914”(association) | 0.350 |
| C9orf72 | CHD2 | psi-mi:“MI:0914”(association) | 0.350 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (138): RPAP1 (Two-hybrid), RPAP1 (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP1 (Co-fractionation), RPAP1 (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A8I6ASZ5, A0JN53, A4IG66, D3Z8X7, D3ZND0, G3X992, O00750, O08836, O70576, P0DKR2, Q15021, Q1JQC5, Q1L5Z9, Q1LWH4, Q1LXZ7, Q2YD98, Q3T1I9, Q3TV65, Q3UJU9, Q4R5Q4, Q5EAU9, Q5JTW2, Q5R6Z1, Q5TC12, Q61249, Q66H15, Q6NY52, Q6P5E6, Q6PBQ2, Q6PI26, Q80TE0, Q80V31, Q80XC6, Q8BIW9, Q8BM55, Q8K2Z4, Q8R3L2, Q8VDP4, Q8WVB6, Q92574
Diamond homologs: A0JN53, O43088, Q04418, Q3T1I9, Q80TE0, Q9BWH6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 94 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 |
|---|---|---|---|
| FGFR2 mutant receptor activation | 6 | 74.9× | 6e-09 |
| Signaling by FGFR2 IIIa TM | 6 | 59.1× | 9e-09 |
| Abortive elongation of HIV-1 transcript in the absence of Tat | 7 | 57.0× | 6e-09 |
| RNA Polymerase III Chain Elongation | 5 | 52.0× | 3e-07 |
| FGFR2 alternative splicing | 7 | 48.5× | 6e-09 |
| RNA Pol II CTD phosphorylation and interaction with CE during HIV infection | 7 | 46.8× | 6e-09 |
| Signaling by FGFR2 | 7 | 46.8× | 6e-09 |
| RNA Pol II CTD phosphorylation and interaction with CE | 7 | 46.8× | 6e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
242 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 199 |
| Likely benign | 13 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4100 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:41518005:CTGAG:C | donor_gain | 1.0000 |
| 15:41518183:C:CC | acceptor_gain | 1.0000 |
| 15:41521736:A:AC | donor_gain | 1.0000 |
| 15:41521737:C:CC | donor_gain | 1.0000 |
| 15:41523350:CTTGG:C | acceptor_gain | 1.0000 |
| 15:41523351:TTGG:T | acceptor_gain | 1.0000 |
| 15:41523355:C:CC | acceptor_gain | 1.0000 |
| 15:41524985:CCTCA:C | donor_loss | 1.0000 |
| 15:41524986:CTCAC:C | donor_loss | 1.0000 |
| 15:41524987:TCA:T | donor_loss | 1.0000 |
| 15:41524990:C:G | donor_loss | 1.0000 |
| 15:41525144:CTCAA:C | acceptor_gain | 1.0000 |
| 15:41525146:CAA:C | acceptor_gain | 1.0000 |
| 15:41525149:C:CC | acceptor_gain | 1.0000 |
| 15:41527153:C:CA | donor_gain | 1.0000 |
| 15:41527161:TCTCA:T | donor_loss | 1.0000 |
| 15:41527162:CTCAC:C | donor_loss | 1.0000 |
| 15:41527163:TCA:T | donor_loss | 1.0000 |
| 15:41527164:CACC:C | donor_loss | 1.0000 |
| 15:41527165:A:AC | donor_gain | 1.0000 |
| 15:41527165:AC:A | donor_gain | 1.0000 |
| 15:41527165:ACC:A | donor_gain | 1.0000 |
| 15:41527165:ACCC:A | donor_loss | 1.0000 |
| 15:41527166:C:CC | donor_gain | 1.0000 |
| 15:41527166:C:CG | donor_loss | 1.0000 |
| 15:41527166:CC:C | donor_gain | 1.0000 |
| 15:41527166:CCC:C | donor_gain | 1.0000 |
| 15:41527166:CCCT:C | donor_gain | 1.0000 |
| 15:41527297:AGCCC:A | acceptor_gain | 1.0000 |
| 15:41527298:GCCC:G | acceptor_gain | 1.0000 |
AlphaMissense
8871 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:41529552:A:G | F359S | 0.997 |
| 15:41529551:G:C | F359L | 0.994 |
| 15:41529551:G:T | F359L | 0.994 |
| 15:41529553:A:G | F359L | 0.994 |
| 15:41528302:A:G | L398P | 0.991 |
| 15:41528292:G:C | S401R | 0.990 |
| 15:41528292:G:T | S401R | 0.990 |
| 15:41528294:T:G | S401R | 0.990 |
| 15:41528311:A:G | L395P | 0.986 |
| 15:41529552:A:C | F359C | 0.986 |
| 15:41528329:C:T | G389E | 0.985 |
| 15:41528327:A:C | Y390D | 0.984 |
| 15:41525034:A:G | W678R | 0.983 |
| 15:41525034:A:T | W678R | 0.983 |
| 15:41528327:A:G | Y390H | 0.983 |
| 15:41529493:G:C | H379D | 0.983 |
| 15:41528326:T:G | Y390S | 0.982 |
| 15:41529495:A:G | L378P | 0.982 |
| 15:41528266:G:T | A410E | 0.981 |
| 15:41529908:A:G | W339R | 0.981 |
| 15:41529908:A:T | W339R | 0.981 |
| 15:41528277:C:A | Q406H | 0.980 |
| 15:41528277:C:G | Q406H | 0.980 |
| 15:41529906:C:A | W339C | 0.980 |
| 15:41529906:C:G | W339C | 0.980 |
| 15:41528330:C:A | G389W | 0.979 |
| 15:41520783:A:G | W1135R | 0.978 |
| 15:41520783:A:T | W1135R | 0.978 |
| 15:41528314:T:A | E394V | 0.977 |
| 15:41528274:T:A | R407S | 0.976 |
dbSNP variants (sampled 300 via entrez): RS1000107201 (15:41533039 A>G), RS1000413624 (15:41533334 G>C), RS1000468839 (15:41520406 G>A,T), RS1000573540 (15:41520367 G>A), RS1000665908 (15:41525977 T>C), RS1000890547 (15:41529266 T>G), RS1000975269 (15:41533197 C>T), RS1001019947 (15:41545622 A>T), RS1001022257 (15:41546138 C>T), RS1001274490 (15:41539773 C>T), RS1001340927 (15:41523029 G>A,C), RS1001669988 (15:41535429 G>T), RS1001696757 (15:41543255 G>C), RS1001941866 (15:41529146 C>T), RS1002144972 (15:41518784 A>G)
Disease associations
OMIM: gene MIM:611475 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006666_16 | Lipid traits (pleiotropy) (HIPO component 1) | 4.000000e-09 |
| GCST007430_126 | Peak expiratory flow | 3.000000e-07 |
| GCST007431_120 | Lung function (FEV1/FVC) | 4.000000e-23 |
| GCST007923_11 | Medication use (drugs used in diabetes) | 1.000000e-08 |
| GCST012495_5 | Lung function (FEV1/FVC) | 2.000000e-13 |
| GCST90020024_479 | A body shape index | 2.000000e-08 |
| GCST90020025_444 | Waist-to-hip ratio adjusted for BMI | 4.000000e-11 |
| GCST90020027_622 | Waist-hip index | 6.000000e-11 |
| GCST90020029_285 | Waist circumference adjusted for body mass index | 4.000000e-08 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0009718 | peak expiratory flow |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0009924 | Drugs used in diabetes use measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067272 (SINGLE PROTEIN)
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 |
|---|---|---|---|---|
| 8.19 | Kd | 6.447 | nM | CHEMBL5653589 |
| 8.19 | ED50 | 6.447 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 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 |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149238: Binding affinity to human RPAP1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0064 | uM |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methacrylaldehyde | affects cotreatment, affects expression, increases expression, increases abundance | 2 |
| Acrolein | increases abundance, affects cotreatment, affects expression, increases expression | 2 |
| Ozone | increases expression, increases abundance, affects cotreatment, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, affects expression, increases abundance | 1 |
| sodium arsenite | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| epigallocatechin gallate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Air Pollutants | affects cotreatment, affects expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Potassium Dichromate | increases expression | 1 |
| Quercetin | increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| T-2 Toxin | increases expression | 1 |
| Testosterone | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, affects expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652280 | Binding | Binding affinity to human RPAP1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.