PAIP1
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Summary
PAIP1 (poly(A) binding protein interacting protein 1, HGNC:16945) is a protein-coding gene on chromosome 5p12, encoding Polyadenylate-binding protein-interacting protein 1 (Q9H074). Acts as a coactivator in the regulation of translation initiation of poly(A)-containing mRNAs.
The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified.
Source: NCBI Gene 10605 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 68 total
- Druggable target: yes
- MANE Select transcript:
NM_006451
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16945 |
| Approved symbol | PAIP1 |
| Name | poly(A) binding protein interacting protein 1 |
| Location | 5p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000172239 |
| Ensembl biotype | protein_coding |
| OMIM | 605184 |
| Entrez | 10605 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 14 protein_coding, 1 nonsense_mediated_decay
ENST00000306846, ENST00000338972, ENST00000436644, ENST00000504075, ENST00000504639, ENST00000508537, ENST00000511321, ENST00000514514, ENST00000514816, ENST00000515338, ENST00000869933, ENST00000869934, ENST00000869935, ENST00000869936, ENST00000929306
RefSeq mRNA: 3 — MANE Select: NM_006451
NM_006451, NM_182789, NM_183323
CCDS: CCDS3947, CCDS3948, CCDS47204
Canonical transcript exons
ENST00000306846 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001148824 | 43526267 | 43527469 |
| ENSE00001175008 | 43538924 | 43539035 |
| ENSE00001175015 | 43543004 | 43543116 |
| ENSE00002222328 | 43556582 | 43557077 |
| ENSE00003527789 | 43536819 | 43536944 |
| ENSE00003557646 | 43529786 | 43529879 |
| ENSE00003563297 | 43535534 | 43535640 |
| ENSE00003626456 | 43533738 | 43533792 |
| ENSE00003632834 | 43555830 | 43555999 |
| ENSE00003694677 | 43534853 | 43534970 |
| ENSE00003789643 | 43547728 | 43547913 |
Expression profiles
Bgee: expression breadth ubiquitous, 142 present calls, max score 98.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.6318 / max 262.9781, expressed in 1820 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 61573 | 17.2883 | 1807 |
| 61570 | 8.8684 | 1788 |
| 61572 | 2.6953 | 1425 |
| 61574 | 2.1909 | 924 |
| 61569 | 1.7082 | 1200 |
| 61571 | 0.8188 | 586 |
| 61575 | 0.0619 | 31 |
Top tissues by expression
145 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 98.53 | gold quality |
| ventricular zone | UBERON:0003053 | 98.48 | gold quality |
| embryo | UBERON:0000922 | 98.43 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.43 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.56 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.51 | gold quality |
| muscle of leg | UBERON:0001383 | 97.48 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 97.34 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.27 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 97.01 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.94 | gold quality |
| endometrium | UBERON:0001295 | 96.83 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 96.59 | gold quality |
| muscle tissue | UBERON:0002385 | 96.44 | gold quality |
| heart | UBERON:0000948 | 96.42 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.37 | gold quality |
| spinal cord | UBERON:0002240 | 96.29 | gold quality |
| gall bladder | UBERON:0002110 | 96.21 | gold quality |
| popliteal artery | UBERON:0002250 | 96.16 | gold quality |
| tibial artery | UBERON:0007610 | 96.16 | gold quality |
| urinary bladder | UBERON:0001255 | 96.05 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.05 | gold quality |
| right testis | UBERON:0004534 | 96.03 | gold quality |
| left testis | UBERON:0004533 | 95.98 | gold quality |
| placenta | UBERON:0001987 | 95.95 | gold quality |
| rectum | UBERON:0001052 | 95.94 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.91 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.87 | gold quality |
| lower esophagus | UBERON:0013473 | 95.86 | gold quality |
| substantia nigra | UBERON:0002038 | 95.85 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
135 targeting PAIP1, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
Literature-anchored findings (GeneRIF, showing 15)
- Paip1 interacts with poly(A) binding protein through two independent binding motifs. (PMID:11997512)
- eIF3-Paip1 stabilizes the interaction between PABP and eIF4G, which brings about the circularization of the mRNA. (PMID:18725400)
- Paip1 is translational activator in 5’ cap-dependent translation by interacting with PABP & initiation factors eIF4A & eIF3. Crystallization & preliminary diffraction analysis of middle domain of Paip1 gives crystals that diffract to resolution of 2.2 A. (PMID:19851022)
- the crystal structure of the middle domain of Paip1 isoform 2 (Paip1M) as determined by single-wavelength anomalous dispersion phasing is reported. (PMID:21539810)
- The Paip1-eIF3 interaction is impaired by the mTORC1 inhibitors. (PMID:24396066)
- Data provide evidence that the stability of Paip1 can be regulated by ubiquitin-mediated degradation, thus highlighting the importance of WWP2 as a suppressor of translation. (PMID:25266661)
- our study demonstrated that Paip1 promotes the growth of breast cancers and could be a prognostic biomarker and therapeutic target (PMID:29258905)
- Results showed that mRNA and protein expression of PAIP1, a miRNA-340 target gene, were down-regulated in women with gestational diabetes. (PMID:29358694)
- Paip1 contributes to Pancreatic cancer progression and appears to be a valid prognostic factor of PC (PMID:30731074)
- These results indicated that PAIP1 and PAIP2 participate in translation termination and are important regulators of readthrough at the premature termination codon. (PMID:30992367)
- Paip1 was overexpressed in cervical cancer (CC) samples and associated with the adverse outcomes in patients with CC. Its knockdown induced inhibition of cell growth, G2/M arrest and apoptosis in CC cells. (PMID:31010277)
- High Paip1 Expression as a Potential Prognostic Marker in Hepatocellular Carcinoma. (PMID:32871777)
- The SARS-unique domain (SUD) of SARS-CoV and SARS-CoV-2 interacts with human Paip1 to enhance viral RNA translation. (PMID:33876849)
- Effect of PAIP1 on the metastatic potential and prognostic significance in oral squamous cell carcinoma. (PMID:35153296)
- YAP1-activated ZNF131 promotes hepatocellular carcinoma cell proliferation through transcriptional regulation of PAIP1. (PMID:38341068)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | paip1 | ENSDARG00000042892 |
| mus_musculus | Paip1 | ENSMUSG00000025451 |
| rattus_norvegicus | Paip1 | ENSRNOG00000058580 |
| drosophila_melanogaster | Paip1 | FBGN0034181 |
Paralogs (2): MIF4GD (ENSG00000125457), CTIF (ENSG00000134030)
Protein
Protein identifiers
Polyadenylate-binding protein-interacting protein 1 — Q9H074 (reviewed: Q9H074)
All UniProt accessions (8): A0A1D5RMS4, D6R9H8, D6RD97, D6REB4, D6RJ02, D6RJF2, Q9H074, H0YA44
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a coactivator in the regulation of translation initiation of poly(A)-containing mRNAs. Its stimulatory activity on translation is mediated via its action on PABPC1. Competes with PAIP2 for binding to PABPC1. Its association with EIF4A and PABPC1 may potentiate contacts between mRNA termini. May also be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. (Microbial infection) Upon interaction with SARS coronavirus SARS-CoV NSP3 protein, plays an important role in viral protein synthesis.
Subunit / interactions. Interacts with the RRM1-RRM2 and C-terminus regions of PABPC1 in a 1:1 stoichiometry. Interacts with EIF4A. (Microbial infection) Interacts (via PAIP1M) with human SARS coronaviruses SARS-COV and SARS-COV-2 NSP3 protein (via SARS-unique domain); the interaction increases binding affinity with PABPC1.
Subcellular location. Cytoplasm.
Domain organisation. Only the PABPC1-interacting motif-1 (PAM1) stimulates translation initiation.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H074-1 | 1 | yes |
| Q9H074-2 | 2 | |
| Q9H074-3 | 3 |
RefSeq proteins (3): NP_006442, NP_877590, NP_899152 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003890 | MIF4G-like_typ-3 | Domain |
| IPR009818 | PAM2_motif | Conserved_site |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR051367 | mRNA_TranslReg/HistoneTransl | Family |
Pfam: PF02854, PF07145
UniProt features (29 total): helix 12, region of interest 5, compositionally biased region 3, modified residue 2, splice variant 2, chain 1, domain 1, sequence conflict 1, strand 1, initiator methionine 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3RK6 | X-RAY DIFFRACTION | 2 |
| 3NTW | X-RAY DIFFRACTION | 2.6 |
| 6YXJ | X-RAY DIFFRACTION | 3.5 |
| 1JH4 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H074-F1 | 72.92 | 0.45 |
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): 21, 2
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-429947 | Deadenylation of mRNA |
| R-HSA-9820841 | M-decay: degradation of maternal mRNAs by maternally stored factors |
| R-HSA-9820865 | Z-decay: degradation of maternal mRNAs by zygotically expressed factors |
MSigDB gene sets: 216 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GCM_ZNF198, DITTMER_PTHLH_TARGETS_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_TRANSLATIONAL_INITIATION, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, GOBP_HOST_MEDIATED_PERTURBATION_OF_VIRAL_PROCESS, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSLATION_REGULATOR_ACTIVITY, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS
GO Biological Process (8): translational initiation (GO:0006413), regulation of translational initiation (GO:0006446), host-mediated activation of viral process (GO:0044794), mRNA stabilization (GO:0048255), CRD-mediated mRNA stabilization (GO:0070934), negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900152), positive regulation of cytoplasmic translation (GO:2000767), regulation of translation (GO:0006417)
GO Molecular Function (3): RNA binding (GO:0003723), translation activator activity (GO:0008494), protein binding (GO:0005515)
GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), mCRD-mediated mRNA stability complex (GO:0106002)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Maternal to zygotic transition (MZT) | 2 |
| Deadenylation-dependent mRNA decay | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| translation | 2 |
| negative regulation of mRNA catabolic process | 2 |
| positive regulation of translation | 2 |
| cellular anatomical structure | 2 |
| formation of translation initiation ternary complex | 1 |
| metabolic process | 1 |
| translational initiation | 1 |
| regulation of translation | 1 |
| host-mediated perturbation of viral process | 1 |
| regulation of mRNA stability | 1 |
| RNA stabilization | 1 |
| mRNA stabilization | 1 |
| nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 1 |
| regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 1 |
| cytoplasmic translation | 1 |
| regulation of cytoplasmic translation | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| nucleic acid binding | 1 |
| translation regulator activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cytosol | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2352 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PAIP1 | PABPC1 | P11940 | 998 |
| PAIP1 | SYNCRIP | O60506 | 961 |
| PAIP1 | PAIP2 | Q9BPZ3 | 940 |
| PAIP1 | HNRNPD | P07029 | 929 |
| PAIP1 | EIF4A1 | P04765 | 925 |
| PAIP1 | EIF4A2 | Q14240 | 925 |
| PAIP1 | EIF3G | O75821 | 907 |
| PAIP1 | EIF4E | P06730 | 769 |
| PAIP1 | CSDE1 | O75534 | 753 |
| PAIP1 | FOS | P01100 | 726 |
| PAIP1 | PAIP2B | Q9ULR5 | 668 |
| PAIP1 | PABPC3 | Q9H361 | 668 |
| PAIP1 | PABPC4 | Q13310 | 650 |
| PAIP1 | RRM1 | P23921 | 608 |
| PAIP1 | TMEM267 | Q0VDI3 | 608 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PAIP1 | PABPC1 | psi-mi:“MI:0914”(association) | 0.970 |
| PABPC1 | PAIP1 | psi-mi:“MI:0407”(direct interaction) | 0.970 |
| PABPC1 | PAIP1 | psi-mi:“MI:0915”(physical association) | 0.970 |
| PAIP1 | PABPC1 | psi-mi:“MI:0915”(physical association) | 0.970 |
| PAIP1 | PABPC1 | psi-mi:“MI:0407”(direct interaction) | 0.970 |
| PABPC1 | PAIP2 | psi-mi:“MI:0915”(physical association) | 0.860 |
| USP12 | PHLPP1 | psi-mi:“MI:0914”(association) | 0.570 |
| ELAVL2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| SNIP1 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| CELF5 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| PAIP2B | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| CDKN2AIP | MAGEB2 | psi-mi:“MI:0914”(association) | 0.530 |
| IGF2BP3 | PTCD1 | psi-mi:“MI:0914”(association) | 0.530 |
| PAIP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| PAIP1 | Eif4a1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| Eif4a1 | PAIP1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| PABPC1 | psi-mi:“MI:0914”(association) | 0.500 |
BioGRID (231): PAIP1 (Affinity Capture-Western), PABPC1 (Affinity Capture-Western), PAIP1 (Reconstituted Complex), WWP2 (Reconstituted Complex), PAIP1 (Biochemical Activity), PAIP1 (Affinity Capture-MS), PAIP1 (Affinity Capture-MS), PAIP1 (Affinity Capture-MS), PAIP1 (Affinity Capture-MS), PAIP1 (Affinity Capture-MS), PAIP1 (Affinity Capture-MS), PAIP1 (Affinity Capture-MS), MKRN2 (Affinity Capture-MS), STAU2 (Affinity Capture-MS), PABPC1L (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: Q7ZYB4, Q8VE62, Q9H074
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| WWP2 | “down-regulates quantity by destabilization” | PAIP1 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 69 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of translation | 6 | 20.6× | 2e-04 |
| RNA processing | 5 | 19.2× | 8e-04 |
| mRNA splicing, via spliceosome | 7 | 11.2× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
68 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1882 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:43527465:AGTAT:A | acceptor_gain | 1.0000 |
| 5:43527466:GTAT:G | acceptor_gain | 1.0000 |
| 5:43527467:TAT:T | acceptor_gain | 1.0000 |
| 5:43527468:AT:A | acceptor_gain | 1.0000 |
| 5:43527469:TCTG:T | acceptor_loss | 1.0000 |
| 5:43527470:C:CA | acceptor_loss | 1.0000 |
| 5:43527470:C:CC | acceptor_gain | 1.0000 |
| 5:43527471:T:A | acceptor_loss | 1.0000 |
| 5:43528134:A:AC | donor_gain | 1.0000 |
| 5:43528135:C:CC | donor_gain | 1.0000 |
| 5:43529779:AACTT:A | donor_loss | 1.0000 |
| 5:43529780:ACTTA:A | donor_loss | 1.0000 |
| 5:43529781:CTTAC:C | donor_loss | 1.0000 |
| 5:43529783:TAC:T | donor_loss | 1.0000 |
| 5:43529784:A:AC | donor_gain | 1.0000 |
| 5:43529785:C:CA | donor_gain | 1.0000 |
| 5:43529785:CG:C | donor_gain | 1.0000 |
| 5:43529785:CGG:C | donor_gain | 1.0000 |
| 5:43529785:CGGAT:C | donor_gain | 1.0000 |
| 5:43529875:GTAAT:G | acceptor_gain | 1.0000 |
| 5:43529876:TAAT:T | acceptor_gain | 1.0000 |
| 5:43529877:AAT:A | acceptor_gain | 1.0000 |
| 5:43529878:AT:A | acceptor_gain | 1.0000 |
| 5:43529878:ATCT:A | acceptor_loss | 1.0000 |
| 5:43529880:C:CC | acceptor_gain | 1.0000 |
| 5:43529880:C:T | acceptor_loss | 1.0000 |
| 5:43534848:CATA:C | donor_loss | 1.0000 |
| 5:43534849:ATACC:A | donor_loss | 1.0000 |
| 5:43534850:TACC:T | donor_loss | 1.0000 |
| 5:43534851:A:T | donor_loss | 1.0000 |
AlphaMissense
3114 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:43534919:C:A | W377C | 1.000 |
| 5:43534919:C:G | W377C | 1.000 |
| 5:43534921:A:G | W377R | 1.000 |
| 5:43534921:A:T | W377R | 1.000 |
| 5:43527409:A:C | F469L | 0.999 |
| 5:43527409:A:T | F469L | 0.999 |
| 5:43527411:A:G | F469L | 0.999 |
| 5:43534935:A:G | L372P | 0.999 |
| 5:43535633:C:T | G327E | 0.999 |
| 5:43533755:A:G | F412S | 0.998 |
| 5:43533777:A:C | Y405D | 0.998 |
| 5:43533778:A:C | F404L | 0.998 |
| 5:43533778:A:T | F404L | 0.998 |
| 5:43533780:A:G | F404L | 0.998 |
| 5:43534918:C:G | G378R | 0.998 |
| 5:43534920:C:G | W377S | 0.998 |
| 5:43535634:C:G | G327R | 0.998 |
| 5:43535634:C:T | G327R | 0.998 |
| 5:43536819:C:A | K324N | 0.998 |
| 5:43536819:C:G | K324N | 0.998 |
| 5:43538940:A:G | L277P | 0.998 |
| 5:43555860:A:C | F135L | 0.998 |
| 5:43555860:A:T | F135L | 0.998 |
| 5:43555862:A:G | F135L | 0.998 |
| 5:43527423:C:G | A465P | 0.997 |
| 5:43533764:C:A | G409V | 0.997 |
| 5:43533779:A:G | F404S | 0.997 |
| 5:43533785:G:T | P402Q | 0.997 |
| 5:43536823:A:G | L323S | 0.997 |
| 5:43538928:A:G | L281P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000021506 (5:43527018 A>G), RS1000061555 (5:43534419 G>C), RS1000124278 (5:43541659 G>A,T), RS1000174906 (5:43543615 T>C), RS1000223636 (5:43541315 G>A,C), RS1000281930 (5:43547738 A>C), RS1000521462 (5:43531334 A>G,T), RS1000590501 (5:43545118 C>T), RS1000654611 (5:43553669 T>C), RS1000677473 (5:43557028 G>A,C), RS1000813142 (5:43559271 C>G,T), RS1000917454 (5:43528822 A>T), RS1000967411 (5:43540139 G>A), RS1001019613 (5:43540461 C>A,T), RS1001065041 (5:43536128 T>C)
Disease associations
OMIM: gene MIM:605184 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003265_351 | Post bronchodilator FEV1/FVC ratio in COPD | 2.000000e-06 |
| GCST003265_352 | Post bronchodilator FEV1/FVC ratio in COPD | 2.000000e-06 |
| GCST003265_353 | Post bronchodilator FEV1/FVC ratio in COPD | 2.000000e-06 |
| GCST003265_354 | Post bronchodilator FEV1/FVC ratio in COPD | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004713 | FEV/FVC ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067353 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
3 potent at pChembl≥5 of 4 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.49 | Kd | 3.242 | nM | CHEMBL5653589 |
| 8.26 | ED50 | 5.519 | nM | CHEMBL5653589 |
| 5.09 | Kd | 8186 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148932: Binding affinity to human PAIP1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0032 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148932: Binding affinity to human PAIP1 incubated for 45 mins by Kinobead based pull down assay | kd | 8.1860 | uM |
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment, increases expression | 3 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Valproic Acid | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| zinc chloride | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| deguelin | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Amphotericin B | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Cyclophosphamide | decreases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Dietary Carbohydrates | decreases expression | 1 |
| Doxorubicin | decreases 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 |
|---|---|---|---|
| CHEMBL5651974 | Binding | Binding affinity to human PAIP1 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.