UBP1
gene geneOn this page
Also known as TFCP2L5LBP-1a
Summary
UBP1 (upstream binding protein 1, HGNC:12507) is a protein-coding gene on chromosome 3p22.3, encoding Upstream-binding protein 1 (Q9NZI7). Functions as a transcriptional activator in a promoter context-dependent manner.
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of viral transcription and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm.
Source: NCBI Gene 7342 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 6 total
- MANE Select transcript:
NM_014517
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12507 |
| Approved symbol | UBP1 |
| Name | upstream binding protein 1 |
| Location | 3p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TFCP2L5, LBP-1a |
| Ensembl gene | ENSG00000153560 |
| Ensembl biotype | protein_coding |
| OMIM | 609784 |
| Entrez | 7342 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 7 protein_coding, 4 retained_intron, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000283628, ENST00000283629, ENST00000411650, ENST00000447368, ENST00000456378, ENST00000464787, ENST00000466441, ENST00000467613, ENST00000481761, ENST00000486388, ENST00000490112, ENST00000492136, ENST00000496310, ENST00000908179, ENST00000964660, ENST00000964661
RefSeq mRNA: 3 — MANE Select: NM_014517
NM_001128160, NM_001128161, NM_014517
CCDS: CCDS2659, CCDS46788
Canonical transcript exons
ENST00000283629 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001011426 | 33416758 | 33416834 |
| ENSE00001332218 | 33439736 | 33440405 |
| ENSE00001823014 | 33388336 | 33390368 |
| ENSE00003462192 | 33402801 | 33402904 |
| ENSE00003462899 | 33392563 | 33392614 |
| ENSE00003470154 | 33393312 | 33393454 |
| ENSE00003480041 | 33425590 | 33425741 |
| ENSE00003481829 | 33412722 | 33412827 |
| ENSE00003486979 | 33396162 | 33396280 |
| ENSE00003512521 | 33411581 | 33411687 |
| ENSE00003532707 | 33400962 | 33401016 |
| ENSE00003563942 | 33397045 | 33397135 |
| ENSE00003619771 | 33408690 | 33408797 |
| ENSE00003627335 | 33409236 | 33409346 |
| ENSE00003627851 | 33409449 | 33409601 |
| ENSE00003682346 | 33400189 | 33400282 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 96.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.4852 / max 155.1186, expressed in 1812 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 41626 | 14.0446 | 1811 |
| 41627 | 1.5671 | 515 |
| 41625 | 0.5668 | 349 |
| 41623 | 0.3067 | 133 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibia | UBERON:0000979 | 96.22 | gold quality |
| cortical plate | UBERON:0005343 | 95.71 | gold quality |
| blood vessel layer | UBERON:0004797 | 95.70 | gold quality |
| rectum | UBERON:0001052 | 95.12 | gold quality |
| sural nerve | UBERON:0015488 | 95.11 | gold quality |
| visceral pleura | UBERON:0002401 | 94.79 | gold quality |
| popliteal artery | UBERON:0002250 | 94.76 | gold quality |
| tibial artery | UBERON:0007610 | 94.76 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.67 | gold quality |
| right coronary artery | UBERON:0001625 | 94.64 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 94.62 | gold quality |
| endothelial cell | CL:0000115 | 94.52 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.48 | gold quality |
| lymph node | UBERON:0000029 | 94.43 | gold quality |
| caecum | UBERON:0001153 | 94.43 | gold quality |
| tonsil | UBERON:0002372 | 94.41 | gold quality |
| aorta | UBERON:0000947 | 94.26 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.17 | gold quality |
| cerebellar vermis | UBERON:0004720 | 94.17 | gold quality |
| parotid gland | UBERON:0001831 | 94.02 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.95 | gold quality |
| tendon | UBERON:0000043 | 93.88 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.88 | gold quality |
| monocyte | CL:0000576 | 93.87 | gold quality |
| mononuclear cell | CL:0000842 | 93.86 | gold quality |
| leukocyte | CL:0000738 | 93.79 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.78 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.72 | gold quality |
| saphenous vein | UBERON:0007318 | 93.72 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.61 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.28 |
| E-MTAB-4850 | no | 290.56 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
3 targets.
| Target | Regulation |
|---|---|
| CYP11A1 | Unknown |
| CYP2A6 | Activation |
| CYP2B6 |
Upstream regulators (CollecTRI, top): E2F1, FOS
miRNA regulators (miRDB)
117 targeting UBP1, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
Literature-anchored findings (GeneRIF, showing 5)
- LBP-1b is an important SF1-independent transcriptional activator stimulating P450scc expression in human placental JEG-3 cells, whereas LBP-9 modulates the action of LBP-1b, exerting both positive and negative effects (PMID:15471945)
- LBP-1b and LBP-9 both stimulate LBP-32/MGR promoter activity. (PMID:18004979)
- UBP1 is a critical blood pressure determinant using a combination of mouse and human genetics. (PMID:19662162)
- Data revealed that dimers composed of LBP-1a and LBP-1c were re-formed probably by a partner-exchange of LBP-1b-containing heterodimers. (PMID:19751393)
- Studies reveal that TFCP2, TFCP2L1, UBP1 belong to a transcription factors subfamily and involved in various aspects of cancer types and development as either proto-oncogenes or tumor suppressors. They can directly interact with each other; TFCP2, TFCP2L1 and UBP1 can form heteromeric DNA-binding complexes. In addition, TFCP2L1 can modulate the activity of TFCP2 and UBP1. [review] (PMID:29410248)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ubp1 | ENSDARG00000018000 |
| mus_musculus | Ubp1 | ENSMUSG00000009741 |
| rattus_norvegicus | Ubp1 | ENSRNOG00000009729 |
| drosophila_melanogaster | gem | FBGN0050011 |
| caenorhabditis_elegans | grh-1 | WBGENE00001707 |
Paralogs (5): GRHL2 (ENSG00000083307), TFCP2L1 (ENSG00000115112), GRHL1 (ENSG00000134317), TFCP2 (ENSG00000135457), GRHL3 (ENSG00000158055)
Protein
Protein identifiers
Upstream-binding protein 1 — Q9NZI7 (reviewed: Q9NZI7)
Alternative names: Transcription factor LBP-1
All UniProt accessions (3): Q9NZI7, C9JWL3, F8WEP8
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a transcriptional activator in a promoter context-dependent manner. Modulates the placental expression of CYP11A1. Involved in regulation of the alpha-globin gene in erythroid cells. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with TFCP2. Involved in regulation of the alpha-globin gene in erythroid cells. Binds strongly to sequences around the HIV-1 initiation site and weakly over the TATA-box. Represses HIV-1 transcription by inhibiting the binding of TFIID to the TATA-box.
Subunit / interactions. Interacts with TFCP2. Interacts with PIAS1, and is probably part of a complex containing TFCP2, UBP1 and PIAS1.
Subcellular location. Nucleus.
Tissue specificity. Expressed in adrenal tissue, JEG-3, NCI-H295A, Hep-G2 and HeLa cell lines.
Induction. By HIV-1 infection of lymphocytes.
Similarity. Belongs to the grh/CP2 family. CP2 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NZI7-1 | 1, LBP-1b | yes |
| Q9NZI7-4 | 2, LBP-1a |
RefSeq proteins (3): NP_001121632, NP_001121633, NP_055332* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007604 | CP2 | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR037600 | Ubp1_SAM | Domain |
| IPR040167 | TF_CP2-like | Family |
| IPR041418 | SAM_3 | Domain |
| IPR057520 | GRHL1/CP2_C | Domain |
Pfam: PF04516, PF18016, PF25416
UniProt features (18 total): sequence conflict 6, modified residue 3, sequence variant 2, region of interest 2, compositionally biased region 2, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NZI7-F1 | 76.04 | 0.56 |
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): 22, 390, 393
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 172 (showing top):
GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, TACAATC_MIR508, CACCAGC_MIR138, GGGCATT_MIR365, TGTGTGA_MIR377, GOBP_BLOOD_VESSEL_MORPHOGENESIS, chr3p22, LEE_METASTASIS_AND_ALTERNATIVE_SPLICING_DN, GOBP_REGULATION_OF_VIRAL_TRANSCRIPTION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GNF2_DDX5, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_VIRAL_TRANSCRIPTION, ATGTTTC_MIR494, BLALOCK_ALZHEIMERS_DISEASE_DN
GO Biological Process (4): angiogenesis (GO:0001525), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of viral transcription (GO:0032897), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| cellular anatomical structure | 3 |
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| blood vessel morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| viral transcription | 1 |
| regulation of viral transcription | 1 |
| negative regulation of viral process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1538 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UBP1 | TLCD3B | Q71RH2 | 763 |
| UBP1 | SGPP1 | Q9BX95 | 760 |
| UBP1 | CYP11A1 | P05108 | 613 |
| UBP1 | DPYD | Q12882 | 578 |
| UBP1 | FUBP1 | Q96AE4 | 567 |
| UBP1 | PHC2 | Q8IXK0 | 553 |
| UBP1 | APBB1 | O00213 | 553 |
| UBP1 | PTBP1 | P26599 | 537 |
| UBP1 | TYMS | P04818 | 534 |
| UBP1 | CBX2 | Q14781 | 497 |
| UBP1 | PHC1 | P78364 | 490 |
| UBP1 | USP7 | Q93009 | 485 |
| UBP1 | MTDH | Q86UE4 | 482 |
| UBP1 | UCHL3 | P15374 | 457 |
| UBP1 | EIF4E | P06730 | 452 |
IntAct
63 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LNX1 | UBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBP1 | MORF4L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TFCP2 | UBP1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| FOXP3 | FOXP2 | psi-mi:“MI:0914”(association) | 0.530 |
| STK35 | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.530 |
| DPYSL4 | PLCG1 | psi-mi:“MI:0914”(association) | 0.530 |
| MTHFD2 | ACADL | psi-mi:“MI:0914”(association) | 0.530 |
| ANKRD29 | ADD1 | psi-mi:“MI:0914”(association) | 0.530 |
| UBP1 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| UBP1 | FXR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF184 | UBP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBP1 | GLYCTK | psi-mi:“MI:0915”(physical association) | 0.370 |
| JAK2 | SLC2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| Clasp2 | IBTK | psi-mi:“MI:0914”(association) | 0.350 |
| FOXA1 | NFIC | psi-mi:“MI:0914”(association) | 0.350 |
| FOXC1 | NFIX | psi-mi:“MI:0914”(association) | 0.350 |
| FOXC2 | ZNF536 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXE1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXD3 | MYL12B | psi-mi:“MI:0914”(association) | 0.350 |
| FOXN1 | FOXN1 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXP1 | MYL12B | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| vIRF | GPC4 | psi-mi:“MI:0914”(association) | 0.350 |
| BCAR1 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARID1A | psi-mi:“MI:0914”(association) | 0.350 | |
| SRF | GPC4 | psi-mi:“MI:0914”(association) | 0.350 |
| BANF1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (88): UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS), UBP1 (Affinity Capture-MS)
ESM2 similar proteins: A2A690, A2AWP8, A6QL63, F1LTE0, O08873, O14795, O43312, O70585, P0C7A6, P84060, Q08BT5, Q0VGY8, Q14161, Q15139, Q1LVW0, Q3KR37, Q5T6S3, Q62101, Q66H91, Q68FF6, Q6DFZ1, Q6GQW0, Q6IQ26, Q6P6Y1, Q6PAL8, Q6ZWH5, Q80TI0, Q80U28, Q80YA9, Q86UE8, Q8BG18, Q8BIE6, Q8R1S4, Q8WXG6, Q8WXI2, Q92538, Q9BZ71, Q9C0D5, Q9D2N4, Q9ESB5
Diamond homologs: G5EDF0, P13002, Q12800, Q3UNW5, Q4V860, Q5EY87, Q5FWH3, Q5M7R9, Q5PPL8, Q5RAR8, Q5RB16, Q6GL65, Q6ISB3, Q6NZH6, Q7T2U9, Q811S7, Q8K5C0, Q8TE85, Q921D9, Q9ERA0, Q9NZI5, Q9NZI6, Q9NZI7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 91 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 |
|---|---|---|---|
| positive regulation of cell differentiation | 5 | 16.5× | 3e-03 |
| anatomical structure morphogenesis | 6 | 10.3× | 3e-03 |
| chromatin remodeling | 8 | 7.2× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
6 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2478 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:33393450:ATAAA:A | acceptor_gain | 1.0000 |
| 3:33393451:TAAA:T | acceptor_gain | 1.0000 |
| 3:33393452:AAA:A | acceptor_gain | 1.0000 |
| 3:33393453:AA:A | acceptor_gain | 1.0000 |
| 3:33393455:C:CC | acceptor_gain | 1.0000 |
| 3:33393461:T:C | acceptor_gain | 1.0000 |
| 3:33393461:T:TC | acceptor_gain | 1.0000 |
| 3:33397039:TTTTA:T | donor_loss | 1.0000 |
| 3:33397040:TTTA:T | donor_loss | 1.0000 |
| 3:33397041:TTA:T | donor_loss | 1.0000 |
| 3:33397042:TAC:T | donor_loss | 1.0000 |
| 3:33397043:A:T | donor_loss | 1.0000 |
| 3:33397044:C:CA | donor_loss | 1.0000 |
| 3:33397133:CAC:C | acceptor_gain | 1.0000 |
| 3:33397134:ACCTA:A | acceptor_loss | 1.0000 |
| 3:33397136:C:CC | acceptor_gain | 1.0000 |
| 3:33397137:T:A | acceptor_loss | 1.0000 |
| 3:33400184:CATA:C | donor_loss | 1.0000 |
| 3:33400185:ATAC:A | donor_loss | 1.0000 |
| 3:33400186:TA:T | donor_loss | 1.0000 |
| 3:33400187:A:AT | donor_loss | 1.0000 |
| 3:33400279:TTTG:T | acceptor_gain | 1.0000 |
| 3:33400280:TTG:T | acceptor_gain | 1.0000 |
| 3:33400281:TG:T | acceptor_gain | 1.0000 |
| 3:33400283:C:CC | acceptor_gain | 1.0000 |
| 3:33400286:T:TC | acceptor_gain | 1.0000 |
| 3:33400290:CAA:C | acceptor_gain | 1.0000 |
| 3:33400292:A:AC | acceptor_gain | 1.0000 |
| 3:33400292:A:C | acceptor_gain | 1.0000 |
| 3:33400956:ACTT:A | donor_loss | 1.0000 |
AlphaMissense
3574 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:33397066:A:G | L417P | 1.000 |
| 3:33397075:C:T | G414E | 1.000 |
| 3:33397076:C:G | G414R | 1.000 |
| 3:33397076:C:T | G414R | 1.000 |
| 3:33400239:A:G | L377P | 1.000 |
| 3:33409312:C:G | R248P | 1.000 |
| 3:33409326:T:A | K243N | 1.000 |
| 3:33409326:T:G | K243N | 1.000 |
| 3:33409327:T:A | K243I | 1.000 |
| 3:33409328:T:C | K243E | 1.000 |
| 3:33409329:C:A | R242S | 1.000 |
| 3:33409329:C:G | R242S | 1.000 |
| 3:33409330:C:A | R242M | 1.000 |
| 3:33409330:C:G | R242T | 1.000 |
| 3:33409331:T:A | R242W | 1.000 |
| 3:33409331:T:C | R242G | 1.000 |
| 3:33409339:C:A | G239V | 1.000 |
| 3:33409339:C:T | G239D | 1.000 |
| 3:33409340:C:A | G239C | 1.000 |
| 3:33409340:C:G | G239R | 1.000 |
| 3:33409340:C:T | G239S | 1.000 |
| 3:33409341:T:A | K238N | 1.000 |
| 3:33409341:T:G | K238N | 1.000 |
| 3:33409342:T:A | K238I | 1.000 |
| 3:33409343:T:C | K238E | 1.000 |
| 3:33409449:C:A | K236N | 1.000 |
| 3:33409449:C:G | K236N | 1.000 |
| 3:33409451:T:C | K236E | 1.000 |
| 3:33409452:A:C | F235L | 1.000 |
| 3:33409452:A:T | F235L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000042094 (3:33404450 A>G), RS1000099112 (3:33431348 C>G,T), RS1000140679 (3:33413680 C>A), RS1000257366 (3:33413991 G>C), RS1000368040 (3:33393987 T>C), RS1000394126 (3:33443370 A>G), RS1000441976 (3:33394281 C>A,G,T), RS1000551629 (3:33432996 G>A), RS1000607681 (3:33426841 T>A,C), RS1000649827 (3:33403039 G>A,T), RS1000719105 (3:33401341 AAGTT>A), RS1000721624 (3:33427159 T>C), RS1000857769 (3:33433157 A>G), RS1000872636 (3:33401623 C>A,T), RS1000878536 (3:33438404 G>A,C)
Disease associations
OMIM: gene MIM:609784 | 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 |
|---|---|---|
| GCST90020029_1166 | Waist circumference adjusted for body mass index | 1.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, affects expression, decreases expression | 3 |
| Ozone | increases oxidation, increases abundance, affects expression, affects cotreatment | 2 |
| Valproic Acid | decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| geraniol | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| ICG 001 | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Asbestos, Serpentine | decreases methylation | 1 |
| Asbestos, Crocidolite | decreases methylation | 1 |
| Asbestos, Amosite | decreases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
| Volatile Organic Compounds | increases oxidation, affects cotreatment | 1 |
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.