WHR1
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Also known as G11RP1D6S60TWH19
Summary
WHR1 (winged helix repair factor 1, HGNC:11398) is a protein-coding gene on chromosome 6p21.33, encoding Winged helix repair factor 1 (P49842). DNA-binding protein which is required for efficient transcription-coupled nucleotide excision repair (TC-NER).
This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants.
Source: NCBI Gene 8859 — RefSeq curated summary.
At a glance
- GWAS associations: 45
- Clinical variants (ClinVar): 42 total
- Druggable target: yes
- MANE Select transcript:
NM_004197
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11398 |
| Approved symbol | WHR1 |
| Name | winged helix repair factor 1 |
| Location | 6p21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | G11, RP1, D6S60, TWH19 |
| Ensembl gene | ENSG00000204344 |
| Ensembl biotype | protein_coding |
| OMIM | 604977 |
| Entrez | 8859 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 12 protein_coding, 8 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000375331, ENST00000375333, ENST00000460018, ENST00000463823, ENST00000466132, ENST00000466336, ENST00000469907, ENST00000471028, ENST00000473983, ENST00000478486, ENST00000479644, ENST00000483801, ENST00000484540, ENST00000490822, ENST00000491861, ENST00000492583, ENST00000519179, ENST00000685781, ENST00000858578, ENST00000923321, ENST00000923322, ENST00000968133, ENST00000968134
RefSeq mRNA: 2 — MANE Select: NM_004197
NM_004197, NM_032454
CCDS: CCDS34417
Canonical transcript exons
ENST00000547578 — 0 exons
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 98.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8360 / max 119.4819, expressed in 1809 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 67106 | 8.2116 | 1782 |
| 67107 | 4.7618 | 1709 |
| 67108 | 0.8374 | 313 |
| 67109 | 0.0252 | 5 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left adrenal gland | UBERON:0001234 | 98.20 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.11 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.02 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.75 | gold quality |
| adrenal gland | UBERON:0002369 | 97.51 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.09 | gold quality |
| skin of leg | UBERON:0001511 | 93.27 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.09 | gold quality |
| zone of skin | UBERON:0000014 | 93.06 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.04 | gold quality |
| left ovary | UBERON:0002119 | 93.03 | gold quality |
| pituitary gland | UBERON:0000007 | 92.89 | gold quality |
| right ovary | UBERON:0002118 | 92.85 | gold quality |
| spleen | UBERON:0002106 | 92.65 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.42 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.41 | gold quality |
| ovary | UBERON:0000992 | 92.31 | gold quality |
| left uterine tube | UBERON:0001303 | 92.07 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 91.83 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 91.74 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.69 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.64 | gold quality |
| lower esophagus | UBERON:0013473 | 91.63 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 91.43 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.43 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.41 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.34 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.32 | gold quality |
| esophagus mucosa | UBERON:0002469 | 91.30 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.28 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.47 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
24 targeting WHR1, 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-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-1911-3P | 99.15 | 66.17 | 528 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-6814-5P | 99.03 | 66.68 | 1273 |
| HSA-MIR-4436B-3P | 98.25 | 65.26 | 1494 |
| HSA-MIR-6735-5P | 98.24 | 65.36 | 1488 |
| HSA-MIR-7843-5P | 98.12 | 65.26 | 1421 |
| HSA-MIR-4691-3P | 98.11 | 66.83 | 1204 |
| HSA-MIR-4632-5P | 97.82 | 65.38 | 1470 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-6879-5P | 97.77 | 65.52 | 1521 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
| HSA-MIR-4462 | 95.10 | 66.27 | 172 |
Literature-anchored findings (GeneRIF, showing 2)
- STK19: a new target for NRAS-driven cancer. (PMID:32587355)
- STK19 is a DNA/RNA-binding protein critical for DNA damage repair and cell proliferation. (PMID:38252411)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stk19 | ENSDARG00000086628 |
| ENSDARG00000101693 | ||
| mus_musculus | Stk19 | ENSMUSG00000061207 |
| rattus_norvegicus | Stk19 | ENSRNOG00000048929 |
Protein
Protein identifiers
Winged helix repair factor 1 — P49842 (reviewed: P49842)
Alternative names: Inactive serine/threonine-protein kinase 19, Protein G11, Protein RP1, Tandem winged helix protein formerly known as STK19
All UniProt accessions (5): P49842, A0A1U9X8L3, A0AAQ5BI79, C9J6S8, H0YAS4
UniProt curated annotations — full annotation on UniProt →
Function. DNA-binding protein which is required for efficient transcription-coupled nucleotide excision repair (TC-NER). Acts as part of a TC-NER complex which assembles and interacts with RNA polymerase II (RNAPII) when it stalls at DNA lesions. TC-NER complex subunit UVSSA binds to the GTF2H1/p62 subunit of the TFIIH transcription factor complex, tethering TFIIH to the TC-NER complex. WHR1/STK19 then interacts with the XPD helicase subunit of TFIIH which guides TFIIH to DNA downstream of the stalled RNAPII, ensuring DNA repair. Directly interacts with RNAPII and also binds to downstream DNA. Promotes the timely removal of DNA damage-stalled RNAPII, allowing downstream NER factors to access DNA lesions. Required for monoubiquitination of UVSSA. Regulates repositioning and stabilization of UVSSA within the TC-NER complex. Stimulates ubiquitination of RNAPII complex member RBP1. Also binds to RNA and regulates the expression levels of many mRNAs.
Subunit / interactions. Monomer in solution. Homodimer; when bound to DNA. Component of a transcription-coupled nucleotide excision repair (TC-NER) complex composed of STK19, ERCC6, ERCC8, DDA1, DDB1, ELOF1 and UVSSA which assembles and interacts with the multiprotein RNA polymerase II complex when it stalls at DNA lesions.
Subcellular location. Nucleus Nucleus Nucleus. Cytoplasm.
Tissue specificity. Monocytes, hepatocytes, epithelial cells, T- and B-lymphocytes.
Induction. By ultraviolet radiation (at protein level). Increased by ultraviolet radiation in melanocytes.
Similarity. Belongs to the STK19 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P49842-4 | 4, G11-Y-short | yes |
| P49842-1 | 1, G11-Z | |
| P49842-2 | 2, G11-Z-short | |
| P49842-3 | 3, G11-Y |
RefSeq proteins (2): NP_004188, NP_115830 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018865 | STK19-like | Family |
Pfam: PF10494
UniProt features (54 total): mutagenesis site 18, helix 14, strand 9, sequence variant 4, region of interest 3, turn 2, splice variant 2, chain 1, short sequence motif 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8YCM | X-RAY DIFFRACTION | 1.32 |
| 7XRB | X-RAY DIFFRACTION | 1.65 |
| 9BZ0 | ELECTRON MICROSCOPY | 1.9 |
| 9ER2 | ELECTRON MICROSCOPY | 3.3 |
| 9FD2 | ELECTRON MICROSCOPY | 3.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P49842-F1 | 87.02 | 0.81 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (18):
| Position | Phenotype |
|---|---|
| 72–73 | reduces ubiquitination of rnapii. |
| 181–182 | reduces ubiquitination of rnapii. |
| 186 | abolishes dna-binding activity. abolishes dna-binding activity, causes relocalization to the cytoplasm and reduces inter |
| 186 | weakly impairs dna repair. |
| 190 | abolishes dna-binding activity, causes relocalization to the cytoplasm and reduces interaction with ercc6 and rpa2; when |
| 190 | reduces ubiquitination of rnapii and interaction with dna; when associated with d-216. |
| 200–203 | abolishes dna-binding activity. |
| 200–201 | severely impairs dna repair. |
| 200 | does not affect dna repair. |
| 201 | dramatically reduces dna-binding activity. abolishes dna-binding activity, causes relocalization to the cytoplasm and re |
| 203–204 | reduces ubiquitination of rnapii. reduces interaction with uvssa. |
| 204 | reduces self-association and dna-binding activity. increases cytoplasmic localization. |
| 206 | increases cytoplasmic localization. |
| 215–216 | abolishes dna-binding activity. |
| 216 | reduces ubiquitination of rnapii and interaction with dna; when associated with d-190. |
| 248 | increases cytoplasmic localization. |
| 250 | increases cytoplasmic localization. |
| 4–21 | partial reduction in nuclear localization. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 348 (showing top):
HARRIS_HYPOXIA, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_PHOTOTRANSDUCTION, GOBP_NEUROGENESIS, FOXO4_01, GOBP_NEURAL_RETINA_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_DNA_REPAIR, MORF_RAF1, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS
GO Biological Process (4): DNA repair (GO:0006281), positive regulation of Ras protein signal transduction (GO:0046579), positive regulation of single strand break repair (GO:1903518), DNA damage response (GO:0006974)
GO Molecular Function (6): double-stranded DNA binding (GO:0003690), double-stranded RNA binding (GO:0003725), protein homodimerization activity (GO:0042803), DNA binding (GO:0003677), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), nuclear speck (GO:0016607)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 2 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| Ras protein signal transduction | 1 |
| regulation of Ras protein signal transduction | 1 |
| positive regulation of small GTPase mediated signal transduction | 1 |
| single strand break repair | 1 |
| positive regulation of DNA repair | 1 |
| regulation of single strand break repair | 1 |
| cellular response to stress | 1 |
| DNA binding | 1 |
| RNA binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
478 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WHR1 | SKIC2 | Q15477 | 896 |
| WHR1 | TNXB | P22105 | 879 |
| WHR1 | CYP21A2 | P04033 | 842 |
| WHR1 | DXO | O77932 | 813 |
| WHR1 | C4A | P01028 | 805 |
| WHR1 | SNX31 | Q8N9S9 | 697 |
| WHR1 | PPP6C | O00743 | 679 |
| WHR1 | C2 | P06681 | 623 |
| WHR1 | TACC1 | O75410 | 614 |
| WHR1 | C3orf18 | Q9UK00 | 601 |
| WHR1 | C4A | P01028 | 596 |
| WHR1 | PRH1 | P02810 | 511 |
| WHR1 | ARID2 | Q68CP9 | 479 |
| WHR1 | KIR2DL4 | P78400 | 476 |
| WHR1 | NRAS | P01111 | 474 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| WHR1 | ASB3 | psi-mi:“MI:0915”(physical association) | 0.500 |
| WHR1 | ACACB | psi-mi:“MI:0914”(association) | 0.350 |
| PNMA8A | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| WHR1 | HSPD1 | psi-mi:“MI:0914”(association) | 0.350 |
| AKT1 | WHR1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FBXW7 | WHR1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| WHR1 | SMARCA4 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SMARCA4 | WHR1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SPOP | WHR1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| WHR1 | SPOP | psi-mi:“MI:2364”(proximity) | 0.270 |
| EGFR | WHR1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| WHR1 | PTPN11 | psi-mi:“MI:2364”(proximity) | 0.270 |
| WHR1 | TP53 | psi-mi:“MI:2364”(proximity) | 0.270 |
| WHR1 | POLE | psi-mi:“MI:0915”(physical association) | 0.000 |
| WHR1 | POLR2G | psi-mi:“MI:0915”(physical association) | 0.000 |
| WHR1 | SF3B4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| WHR1 | SP3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| WHR1 | SLC29A1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| WHR1 | PRAME | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (30): STK19 (Two-hybrid), STK19 (Two-hybrid), POLE (Two-hybrid), POLR2G (Two-hybrid), SLC29A1 (Two-hybrid), PRAME (Two-hybrid), STK19 (Affinity Capture-MS), STK19 (Two-hybrid), STK19 (Proximity Label-MS), STK19 (Two-hybrid), STK19 (Two-hybrid), STK19 (Two-hybrid), STK19 (Two-hybrid), STK19 (Two-hybrid), STK19 (Two-hybrid)
ESM2 similar proteins: A0A0E0SC50, A1CTJ1, A1D4X8, A1DMW6, A2X052, A4D9P4, A4RN19, A6RA46, A7EAE5, A7EGK5, A7KAM3, B4FTR7, B8AK78, F7W503, O35954, O94817, P0CM28, P0CM29, P49842, P62869, P62870, Q01317, Q0JCC3, Q0UNW1, Q10CI8, Q13367, Q15370, Q1DY54, Q1E8C2, Q2GSG9, Q2TBJ5, Q2UMW6, Q2URI8, Q3T0W7, Q42713, Q43307, Q4WKD7, Q51P78, Q5BCH0, Q5R7W1
Diamond homologs: A0A1L8F8I9, P49842, Q9JHN8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| STK19 | “up-regulates activity” | NRAS | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1732 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:31978881:A:AG | acceptor_gain | 1.0000 |
| 6:31978892:T:A | acceptor_gain | 1.0000 |
| 6:31978894:T:TA | acceptor_gain | 1.0000 |
| 6:31978895:G:A | acceptor_gain | 1.0000 |
| 6:31978984:GAC:G | donor_gain | 1.0000 |
| 6:31978997:GA:G | donor_gain | 1.0000 |
| 6:31978998:AGT:A | donor_loss | 1.0000 |
| 6:31978999:GT:G | donor_loss | 1.0000 |
| 6:31978999:GTAT:G | donor_gain | 1.0000 |
| 6:31979000:T:G | donor_loss | 1.0000 |
| 6:31979009:GT:G | donor_gain | 1.0000 |
| 6:31980649:TCTA:T | acceptor_loss | 1.0000 |
| 6:31980650:CTAG:C | acceptor_loss | 1.0000 |
| 6:31980651:TAGG:T | acceptor_loss | 1.0000 |
| 6:31980652:A:AG | acceptor_gain | 1.0000 |
| 6:31980652:A:AT | acceptor_loss | 1.0000 |
| 6:31980652:AG:A | acceptor_gain | 1.0000 |
| 6:31980653:G:GA | acceptor_gain | 1.0000 |
| 6:31980653:GG:G | acceptor_gain | 1.0000 |
| 6:31972508:CCAG:C | donor_loss | 0.9900 |
| 6:31972509:CAG:C | donor_loss | 0.9900 |
| 6:31972510:AG:A | donor_loss | 0.9900 |
| 6:31972511:GG:G | donor_loss | 0.9900 |
| 6:31972513:T:G | donor_loss | 0.9900 |
| 6:31972754:GCTG:G | donor_gain | 0.9900 |
| 6:31972783:G:GT | donor_gain | 0.9900 |
| 6:31978882:C:G | acceptor_gain | 0.9900 |
| 6:31978901:A:AG | acceptor_gain | 0.9900 |
| 6:31978902:G:GT | acceptor_gain | 0.9900 |
| 6:31978992:G:GT | donor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000809916 (6:31973421 A>G), RS1001124485 (6:31975117 C>T), RS1001158549 (6:31980963 G>A), RS1002211315 (6:31976369 G>A), RS1002990582 (6:31971355 C>A,G,T), RS1003118406 (6:31973568 T>G), RS1003126584 (6:31971773 A>C), RS1003165508 (6:31979202 G>A), RS1003322023 (6:31978824 C>G,T), RS1004496496 (6:31976380 C>T), RS1004562112 (6:31977048 A>G), RS1004735121 (6:31975092 A>G), RS1005009927 (6:31977578 G>A,C), RS1005232049 (6:31974513 T>G), RS1006232081 (6:31979840 T>C,G)
Disease associations
OMIM: gene MIM:604977 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
45 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001779_12 | Hematology traits | 2.000000e-08 |
| GCST001942_21 | Prostate cancer | 5.000000e-09 |
| GCST001986_2 | Age-related macular degeneration | 2.000000e-10 |
| GCST004131_25 | Inflammatory bowel disease | 2.000000e-31 |
| GCST004133_79 | Ulcerative colitis | 5.000000e-65 |
| GCST004521_114 | Autism spectrum disorder or schizophrenia | 3.000000e-17 |
| GCST004521_117 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_118 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_126 | Autism spectrum disorder or schizophrenia | 2.000000e-10 |
| GCST004521_154 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST004521_162 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST004521_17 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_170 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_173 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_209 | Autism spectrum disorder or schizophrenia | 5.000000e-16 |
| GCST004521_211 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_213 | Autism spectrum disorder or schizophrenia | 5.000000e-13 |
| GCST004521_224 | Autism spectrum disorder or schizophrenia | 5.000000e-10 |
| GCST004521_227 | Autism spectrum disorder or schizophrenia | 4.000000e-12 |
| GCST004521_296 | Autism spectrum disorder or schizophrenia | 6.000000e-18 |
| GCST004521_45 | Autism spectrum disorder or schizophrenia | 2.000000e-16 |
| GCST004521_81 | Autism spectrum disorder or schizophrenia | 1.000000e-14 |
| GCST005359_2 | Disease progression in age-related macular degeneration | 8.000000e-10 |
| GCST005541_19 | Sarcoidosis (Lofgren’s syndrome vs non-Lofgren’s syndrome) | 1.000000e-32 |
| GCST006190_17 | Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) | 4.000000e-10 |
| GCST006190_18 | Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) | 7.000000e-06 |
| GCST006190_58 | Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) | 1.000000e-10 |
| GCST006190_59 | Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) | 1.000000e-09 |
| GCST006192_37 | Systolic blood pressure x smoking status (ever vs never) interaction (2df test) | 3.000000e-14 |
| GCST006192_87 | Systolic blood pressure x smoking status (ever vs never) interaction (2df test) | 4.000000e-11 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008336 | disease progression measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4879437 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs374527 | RP1 | 0.00 | 0 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — G11 family
ChEMBL bioactivities
25 potent at pChembl≥5 of 25 total, top 25 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.62 | IC50 | 24.04 | nM | CHEMBL4870304 |
| 7.62 | IC50 | 23.96 | nM | CHEMBL4870304 |
| 7.55 | IC50 | 27.94 | nM | CHEMBL4870304 |
| 7.53 | IC50 | 29.33 | nM | CHEMBL4866963 |
| 7.45 | IC50 | 35.46 | nM | CHEMBL4870304 |
| 7.32 | IC50 | 48.32 | nM | CHEMBL4852690 |
| 7.24 | IC50 | 57.12 | nM | CHEMBL4849486 |
| 7.19 | IC50 | 64.55 | nM | CHEMBL4852751 |
| 7.16 | IC50 | 70.01 | nM | CHEMBL4850497 |
| 7.10 | IC50 | 79.88 | nM | CHEMBL4867099 |
| 7.10 | IC50 | 79.04 | nM | CHEMBL4845829 |
| 7.04 | IC50 | 90.91 | nM | CHEMBL4861911 |
| 7.02 | IC50 | 95.6 | nM | CHEMBL4870304 |
| 7.01 | IC50 | 96.67 | nM | CHEMBL4865989 |
| 7.00 | IC50 | 98.77 | nM | CHEMBL4854631 |
| 6.99 | IC50 | 101.7 | nM | CHEMBL4866469 |
| 6.90 | IC50 | 127.2 | nM | CHEMBL4853823 |
| 6.86 | IC50 | 137 | nM | CHEMBL4869170 |
| 6.83 | IC50 | 148.3 | nM | CHEMBL4863409 |
| 6.77 | IC50 | 169.3 | nM | CHEMBL4870304 |
| 6.75 | IC50 | 178.2 | nM | CHEMBL4852657 |
| 6.60 | IC50 | 251.9 | nM | CHEMBL4865317 |
| 6.49 | IC50 | 322 | nM | CHEMBL4870304 |
| 6.19 | IC50 | 649.2 | nM | CHEMBL4870304 |
| 6.17 | IC50 | 680.7 | nM | CHEMBL4870304 |
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| Valproic Acid | affects expression, decreases expression, increases expression | 3 |
| Tunicamycin | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Thapsigargin | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases 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 | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Gasoline | increases expression, affects cotreatment, increases abundance | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Triiodothyronine | increases expression | 1 |
ChEMBL screening assays
36 unique, capped per target: 36 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4805273 | Binding | Inhibition of recombinant human STK19 at 10 uM using HA-tagged GTP-preloaded NRAS as substrate incubated for 0-40 mins and measured by ADP-Glo assay relative to control | Stk19 inhibitors for treatment of cancer |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TQ78 | HAP1 STK19 (-) 1 | Cancer cell line | Male |
| CVCL_TQ79 | HAP1 STK19 (-) 2 | Cancer cell line | Male |
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): age-related macular degeneration, bullous pemphigoid, inflammatory bowel disease, major depressive disorder, prostate carcinoma, sarcoidosis, ulcerative colitis