Section 1: Gene Identifiers
| Database | Identifier | Notes |
|---|
| HGNC ID | HGNC:5992 | Approved |
| HGNC Symbol | IL1B | Approved symbol |
| Gene Name | interleukin 1 beta | Official name |
| Ensembl Gene | ENSG00000125538 | Human gene |
| NCBI Entrez Gene | 3553 | |
| OMIM | 147720 | Gene/locus |
| PharmGKB Gene | PA29808 | VIP gene |
Genomic Location (GRCh38/hg38)
| Attribute | Value |
|---|
| Chromosome | 2 |
| Cytogenetic Band | 2q14.1 |
| Start Position | 112,829,751 |
| End Position | 112,836,816 |
| Strand | Minus (-) |
| Genomic Accession | NC_000002.12 |
Gene Aliases
IL-1B
IL1-BETA
IL1F2
IL1beta
Catabolin
Gene Classification
Locus Group: protein-coding gene
Locus Type: gene with protein product
Gene Family: Interleukins
Section 2: Transcript Identifiers
Ensembl Transcripts (Total: 8)
| Transcript ID | Biotype | Start | End | Strand |
|---|
| ENST00000263341 | protein_coding | 112,829,751 | 112,836,779 | - |
| ENST00000416750 | protein_coding | 112,832,795 | 112,836,702 | - |
| ENST00000418817 | protein_coding | 112,832,699 | 112,836,816 | - |
| ENST00000432018 | protein_coding | 112,832,752 | 112,836,434 | - |
| ENST00000477398 | retained_intron | 112,835,181 | 112,836,779 | - |
| ENST00000487639 | retained_intron | 112,831,136 | 112,833,575 | - |
| ENST00000491056 | protein_coding_CDS_not_defined | 112,830,361 | 112,836,779 | - |
| ENST00000496280 | retained_intron | 112,832,913 | 112,836,779 | - |
RefSeq Transcripts (Human)
| Accession | Type | Status | MANE Select |
|---|
| NM_000576 | mRNA | REVIEWED | Yes (Canonical) |
| NP_000567 | Protein | REVIEWED | Yes (Canonical) |
CCDS IDs
| ID | Notes |
|---|
| CCDS2102 | Consensus CDS |
Canonical Transcript Exons (ENST00000263341)
Total Exon Count: 7
| Exon ID | Start | End | Strand |
|---|
| ENSE00001000625 | 112,836,708 | 112,836,779 | - |
| ENSE00003647827 | 112,835,566 | 112,835,617 | - |
| ENSE00003508205 | 112,836,183 | 112,836,244 | - |
| ENSE00003506405 | 112,833,374 | 112,833,575 | - |
| ENSE00003582426 | 112,832,662 | 112,832,826 | - |
| ENSE00003615183 | 112,831,292 | 112,831,422 | - |
| ENSE00000856835 | 112,829,751 | 112,830,573 | - |
Section 3: Protein Identifiers
UniProt Accessions (Total: 4)
| Accession | Status | Name | Length | Mass |
|---|
| P01584 | Reviewed (Swiss-Prot) | Interleukin-1 beta | 269 aa | 30,748 Da |
| C9JSC2 | Unreviewed (TrEMBL) | IL1B isoform | - | - |
| C9JVK0 | Unreviewed (TrEMBL) | IL1B isoform | - | - |
| C9JWV2 | Unreviewed (TrEMBL) | IL1B isoform | - | - |
Protein Alternative Names
- Catabolin
Protein Domains and Families (Total: 6)
| ID | Name | Type |
|---|
| IPR000975 | IL-1_fam | Family |
| IPR003502 | IL-1_propep | Domain |
| IPR008996 | IL1/FGF | Homologous_superfamily |
| IPR020877 | IL-1_CS | Conserved_site |
| PF00340 | IL1 | Pfam domain |
| PF02394 | IL1_propep | Pfam domain |
Section 4: Structure Identifiers
Experimental Structures (Total: 64 PDB entries)
| PDB ID | Method | Resolution | Title |
|---|
| 8RYS | X-ray | 1.16 Å | Human IL-1beta, unliganded (highest resolution) |
| 5R8Q | X-ray | 1.23 Å | Fragment Z2643472210 complex |
| 5R7W | X-ray | 1.27 Å | Ground-state model |
| 5R8E | X-ray | 1.35 Å | Fragment Z57475877 complex |
| 5R8M | X-ray | 1.39 Å | Fragment Z1818332938 complex |
| 5R8F | X-ray | 1.41 Å | Fragment Z2377835233 complex |
| 5R8O | X-ray | 1.42 Å | Fragment Z1881545321 complex |
| 5R8G | X-ray | 1.43 Å | Fragment Z1259086950 complex |
| 5R85 | X-ray | 1.44 Å | Fragment Z1262246195 complex |
| 6Y8I | X-ray | 1.46 Å | Fragment KCL_I013 complex |
| 5R8A | X-ray | 1.47 Å | Fragment Z1492796719 complex |
| 5R86 | X-ray | 1.50 Å | Fragment Z943693514 complex |
| 2NVH | X-ray | 1.53 Å | Solvent content determination |
| 1L2H | X-ray | 1.54 Å | F42W/W120F mutant |
| 3POK | X-ray | 1.70 Å | LBT L3 mutant |
| 4G6M | X-ray | 1.81 Å | Complex with gevokizumab Fab |
| 8RYK | X-ray | 1.80 Å | Macrocyclic peptide hit complex |
| 8RZB | X-ray | 1.84 Å | Covalent DEL hit complex |
| 6Y8M | X-ray | 1.90 Å | Fragment bikinin complex |
| 8C3U | X-ray | 1.95 Å | Low MW antagonist complex |
| 1I1B | X-ray | 2.00 Å | Recombinant human IL-1B |
| 2I1B | X-ray | 2.00 Å | Refined at 2.0 Å |
| 4G6J | X-ray | 2.03 Å | Canakinumab Fab complex |
| 5BVP | X-ray | 2.20 Å | Canakinumab mechanism |
| 1ITB | X-ray | 2.50 Å | IL-1R1 complex |
| 6I1B | NMR | - | Solution structure |
| 7I1B | NMR | - | Solution structure |
| 2KH2 | NMR | - | scFv-IL-1B complex |
Method Summary:
- X-ray Diffraction: 61 structures
- Solution NMR: 3 structures
Predicted Structure (AlphaFold)
| ID | pLDDT (Global) | Sequence Length | Fraction Very High Confidence |
|---|
| AF-P01584 | 76.24 | 2158 | 0.49 (49%) |
Section 5: Cross-Species Orthologs
Model Organism Orthologs
| Organism | Ensembl Gene ID | Symbol | Biotype |
|---|
| Mouse (Mus musculus) | ENSMUSG00000027398 | Il1b | protein_coding |
| Rat (Rattus norvegicus) | ENSRNOG00000004649 | Il1b | protein_coding |
| Zebrafish (Danio rerio) | ENSDARG00000098700 | il1b | protein_coding |
| Zebrafish (Danio rerio) | ENSDARG00000089383 | il1fma | protein_coding |
Note: No direct orthologs identified in Drosophila, C. elegans, or S. cerevisiae (IL-1 family is vertebrate-specific).
Human Paralogs (IL-1 Family Members)
| Ensembl ID | Symbol | Biotype |
|---|
| ENSG00000125571 | IL37 | protein_coding |
| ENSG00000136688 | IL36G | protein_coding |
| ENSG00000136689 | IL1RN | protein_coding |
| ENSG00000136694 | IL36A | protein_coding |
| ENSG00000136695 | IL36RN | protein_coding |
| ENSG00000136696 | IL36B | protein_coding |
| ENSG00000136697 | IL1F10 | protein_coding |
Section 6: Clinical Variants & AI Predictions
ClinVar Variants (Total: 41)
Classification Summary:
| Classification | Count |
|---|
| Uncertain Significance (VUS) | 14 |
| Likely Benign | 5 |
| Benign | 3 |
| Benign/Likely Benign | 1 |
| Risk Factor | 1 |
| Association | 3 |
| Not Provided/Other | 14 |
Top Classified Variants:
| ClinVar ID | HGVS | Classification | Review Status |
|---|
| 772847 | c.100-10C>T | Benign | Multiple submitters |
| 780097 | c.138C>T (p.Gly46=) | Benign | Multiple submitters |
| 779077 | c.171C>T (p.Tyr57=) | Benign/Likely benign | Multiple submitters |
| 2651287 | c.309C>A (p.Ile103=) | Likely benign | Single submitter |
| 916339 | c.630G>A (p.Lys210=) | Likely benign | Single submitter |
| 4274894 | c.419A>G (p.Tyr140Cys) | Likely benign | Single submitter |
| 14671 | g.112836810G>A | Risk factor | No criteria |
| 869137 | c.315C>T (p.Phe105=) | Benign; Association | No criteria |
Missense VUS Variants:
| ClinVar ID | HGVS Notation | Gene |
|---|
| 1049443 | c.28G>A (p.Glu10Lys) | IL1B |
| 2210683 | c.145C>A (p.Gln49Lys) | IL1B |
| 2258916 | c.114C>A (p.Asp38Glu) | IL1B |
| 2260904 | c.92A>G (p.Gln31Arg) | IL1B |
| 2267927 | c.303A>T (p.Glu101Asp) | IL1B |
| 2392768 | c.562G>A (p.Val188Met) | IL1B |
| 2520520 | c.160G>A (p.Asp54Asn) | IL1B |
| 2533024 | c.238C>T (p.Pro80Ser) | IL1B |
| 3109228 | c.364C>G (p.Leu122Val) | IL1B |
| 3109229 | c.423A>C (p.Glu141Asp) | IL1B |
| 3109230 | c.668A>G (p.Asn223Ser) | IL1B |
| 4274892 | c.214G>A (p.Asp72Asn) | IL1B |
| 4274893 | c.43T>C (p.Tyr15His) | IL1B |
| 4678545 | c.704A>G (p.Asn235Ser) | IL1B |
SpliceAI Predictions (Total: 573)
Top 50 Predicted Splice-Altering Variants (Score ≥ 0.9):
| Variant | Effect | Delta Score |
|---|
| 2:112830570:CACT:C | acceptor_gain | 1.00 |
| 2:112830572:CT:C | acceptor_gain | 1.00 |
| 2:112831290:A:AC | donor_gain | 1.00 |
| 2:112831291:C:CA | donor_gain | 1.00 |
| 2:112831420:CCA:C | acceptor_gain | 1.00 |
| 2:112831421:CA:C | acceptor_gain | 1.00 |
| 2:112831397:T:C | acceptor_gain | 1.00 |
| 2:112831288:TTAC:T | donor_loss | 1.00 |
| 2:112831289:TACCT:T | donor_loss | 1.00 |
| 2:112831418:CACCA:C | acceptor_gain | 1.00 |
| 2:112831419:ACCA:A | acceptor_gain | 1.00 |
| 2:112831423:C:CC | acceptor_gain | 1.00 |
| 2:112831422:AC:A | acceptor_loss | 1.00 |
| 2:112831423:CTGAA:C | acceptor_loss | 1.00 |
| 2:112830569:ACACT:A | acceptor_gain | 0.99 |
| 2:112830570:CACTC:C | acceptor_gain | 0.99 |
| 2:112830573:TC:T | acceptor_loss | 0.99 |
| 2:112830574:C:CC | acceptor_gain | 0.99 |
| 2:112830574:CT:C | acceptor_loss | 0.99 |
| 2:112830578:A:T | acceptor_gain | 0.99 |
| 2:112830580:C:CT | acceptor_gain | 1.00 |
| 2:112830581:G:T | acceptor_gain | 0.99 |
| 2:112831421:C:T | acceptor_gain | 0.99 |
AlphaMissense Predictions (Total: 1,816)
Top 50 Predicted Pathogenic Missense Variants:
| Variant | Protein Change | AM Score | Classification |
|---|
| 2:112830386:A:G | F262S | 0.998 | likely_pathogenic |
| 2:112830385:G:C | F262L | 0.996 | likely_pathogenic |
| 2:112830385:G:T | F262L | 0.996 | likely_pathogenic |
| 2:112830386:A:C | F262C | 0.996 | likely_pathogenic |
| 2:112830387:A:C | F262V | 0.973 | likely_pathogenic |
| 2:112830387:A:T | F262I | 0.966 | likely_pathogenic |
| 2:112830380:A:C | M264R | 0.771 | likely_pathogenic |
| 2:112830380:A:T | M264K | 0.771 | likely_pathogenic |
| 2:112830390:C:G | D261H | 0.766 | likely_pathogenic |
| 2:112830386:A:T | F262Y | 0.751 | likely_pathogenic |
| 2:112830395:A:T | I259K | 0.748 | likely_pathogenic |
| 2:112830389:T:C | D261G | 0.733 | likely_pathogenic |
| 2:112830388:G:C | D261E | 0.721 | likely_pathogenic |
| 2:112830388:G:T | D261E | 0.721 | likely_pathogenic |
| 2:112830389:T:A | D261V | 0.694 | likely_pathogenic |
| 2:112830384:T:G | T263P | 0.689 | likely_pathogenic |
| 2:112830395:A:G | I259T | 0.687 | likely_pathogenic |
| 2:112830380:A:G | M264T | 0.672 | likely_pathogenic |
| 2:112830395:A:C | I259R | 0.670 | likely_pathogenic |
| 2:112830393:T:G | T260P | 0.668 | likely_pathogenic |
| 2:112830397:A:C | D258E | 0.663 | likely_pathogenic |
| 2:112830397:A:T | D258E | 0.663 | likely_pathogenic |
| 2:112830373:A:C | F266L | 0.658 | likely_pathogenic |
| 2:112830375:A:G | F266L | 0.658 | likely_pathogenic |
| 2:112830377:T:G | Q265P | 0.641 | likely_pathogenic |
Section 7: Biological Pathways & Gene Ontology
Reactome Pathways (Total: 9)
| Pathway ID | Name | Disease Pathway |
|---|
| R-HSA-9020702 | Interleukin-1 signaling | No |
| R-HSA-448706 | Interleukin-1 processing | No |
| R-HSA-5620971 | Pyroptosis | No |
| R-HSA-5660668 | CLEC7A/inflammasome pathway | No |
| R-HSA-6783783 | Interleukin-10 signaling | No |
| R-HSA-6785807 | Interleukin-4 and Interleukin-13 signaling | No |
| R-HSA-9660826 | Purinergic signaling in leishmaniasis infection | Yes |
| R-HSA-9960519 | CASP4-mediated substrate cleavage | No |
| R-HSA-9960525 | CASP5-mediated substrate cleavage | No |
Gene Ontology Annotations (Total: 99)
Molecular Function (5 terms)
| GO ID | Term |
|---|
| GO:0005125 | cytokine activity |
| GO:0005149 | interleukin-1 receptor binding |
| GO:0005178 | integrin binding |
| GO:0019904 | protein domain specific binding |
Cellular Component (5 terms)
| GO ID | Term |
|---|
| GO:0005576 | extracellular region |
| GO:0005615 | extracellular space |
| GO:0005764 | lysosome |
| GO:0005829 | cytosol |
| GO:0030141 | secretory granule |
Biological Process (Top 50 of 89 terms)
| GO ID | Term |
|---|
| GO:0001660 | fever generation |
| GO:0006954 | inflammatory response |
| GO:0006955 | immune response |
| GO:0007165 | signal transduction |
| GO:0019221 | cytokine-mediated signaling pathway |
| GO:0070498 | interleukin-1-mediated signaling pathway |
| GO:0050729 | positive regulation of inflammatory response |
| GO:0031622 | positive regulation of fever generation |
| GO:0043123 | positive regulation of canonical NF-kappaB signal transduction |
| GO:0045944 | positive regulation of transcription by RNA polymerase II |
| GO:0008284 | positive regulation of cell population proliferation |
| GO:0030335 | positive regulation of cell migration |
| GO:0045766 | positive regulation of angiogenesis |
| GO:0032755 | positive regulation of interleukin-6 production |
| GO:0032757 | positive regulation of interleukin-8 production |
| GO:0045429 | positive regulation of nitric oxide biosynthetic process |
| GO:0050830 | defense response to Gram-positive bacterium |
| GO:0030593 | neutrophil chemotaxis |
| GO:0042102 | positive regulation of T cell proliferation |
| GO:0002711 | positive regulation of T cell mediated immunity |
| GO:0070374 | positive regulation of ERK1 and ERK2 cascade |
| GO:0046330 | positive regulation of JNK cascade |
| GO:1900745 | positive regulation of p38MAPK cascade |
| GO:0051897 | positive regulation of PI3K/AKT signaling |
| GO:0048143 | astrocyte activation |
| GO:0150078 | positive regulation of neuroinflammatory response |
| GO:0006915 | apoptotic process |
| GO:0097192 | extrinsic apoptotic signaling pathway |
| GO:0032496 | response to lipopolysaccharide |
| GO:0071222 | cellular response to lipopolysaccharide |
Section 8: Protein Interactions & Molecular Networks
STRING Protein-Protein Interactions (Total: 8,488)
Top 50 Highest-Confidence Interactors:
| UniProt ID | Gene | Score | Function |
|---|
| P01585 | IL1A | 999 | Interleukin-1 alpha |
| P14778 | IL1R1 | 999 | IL-1 receptor type 1 |
| P01579 | IFNG | 998 | Interferon gamma |
| P05112 | IL4 | 998 | Interleukin-4 |
| P05113 | IL5 | 998 | Interleukin-5 |
| P78397 | IL1RAP | 998 | IL-1 receptor accessory protein |
| P19438 | TNFRSF1A | 997 | TNF receptor 1 |
| Q9NPH3 | IL1RAP | 997 | IL-1 receptor accessory protein |
| P04141 | CSF2 | 996 | GM-CSF |
| P27930 | IL1R2 | 996 | IL-1 receptor type 2 (decoy) |
| P01375 | TNF | 993 | Tumor necrosis factor |
| P09919 | CSF3 | 993 | G-CSF |
| P05231 | IL6 | 990 | Interleukin-6 |
| P29466 | CASP1 | 988 | Caspase-1 |
| O00206 | TLR4 | 984 | Toll-like receptor 4 |
| P01583 | IL1A | 983 | Interleukin-1 alpha |
| P22301 | IL10 | 978 | Interleukin-10 |
| P51617 | IRAK1 | 978 | IL-1R-associated kinase 1 |
| P08700 | IL3 | 976 | Interleukin-3 |
| P01023 | A2M | 975 | Alpha-2-macroglobulin |
| Q9NR96 | TLR9 | 975 | Toll-like receptor 9 |
| P08887 | IL6R | 974 | IL-6 receptor |
| Q14116 | IL18 | 973 | Interleukin-18 |
| P10145 | IL8/CXCL8 | 963 | Interleukin-8 |
| P19838 | NFKB1 | 960 | NF-kappa-B p105 |
IntAct Molecular Interactions (Total: 16)
| Interaction ID | Partner | Type | Score |
|---|
| EBI-15560358 | IL1RAP | association | 0.760 |
| EBI-3861725 | IL1RAP | physical association | 0.760 |
| EBI-1026319 | IL1R1 | direct interaction | 0.440 |
| EBI-15780895 | CASP1 | protein cleavage | 0.440 |
| EBI-9355788 | PKM | phosphorylation | 0.440 |
| EBI-6858757 | IKBKG | physical association | 0.400 |
| EBI-6595549 | A2M | proximity | 0.270 |
BioGRID Interactions (Total: 60)
Notable Interactors by Experimental System:
| Partner | System | Notes |
|---|
| CASP1 | Affinity Capture-Western | Processing enzyme |
| GSDMD | Affinity Capture-MS | Gasdermin D |
| NLRP3 | Affinity Capture-Western | Inflammasome |
| HSP90AA1 | Affinity Capture-MS | Chaperone |
| IL1R1 | Reconstituted Complex | Receptor |
| IL18 | Affinity Capture-MS | Co-secreted cytokine |
| APP | Reconstituted Complex | Amyloid precursor |
Protein Structural Similarity (ESM2) - Total: 59
| UniProt ID | Top Similarity | Avg Similarity |
|---|
| P48090 | 1.0000 | 0.9916 |
| P51493 | 1.0000 | 0.9916 |
| P79182 | 1.0000 | 0.9916 |
| Q2HZH0 | 1.0000 | 0.9918 |
| Q6PUD2 | 1.0000 | 0.9918 |
| P09428 | 0.9999 | 0.9923 |
| P21621 | 0.9999 | 0.9920 |
| P79162 | 0.9999 | 0.9922 |
| P01583 (IL1A) | 0.9992 | 0.9915 |
Sequence Homology (DIAMOND) - Total: 29
| UniProt ID | Top Identity | Bitscore |
|---|
| Q2HZH0 | 100.0% | 546 |
| Q6PUD2 | 100.0% | 546 |
| P79182 | 99.3% | 535 |
| P48090 | 99.3% | 536 |
| P51493 | 98.5% | 534 |
| P09428 | 98.5% | 527 |
| P21621 | 98.5% | 519 |
Section 9: Transcription Factor Regulatory Data
IL1B is NOT a transcription factor itself, but is extensively regulated by TFs and functions as a signaling molecule.
Upstream Regulators (TFs that regulate IL1B) - Total: 100+
Top Activators (High Confidence):
| TF | Regulation | Confidence |
|---|
| NFKB1 | Activation | High |
| RELA | Activation | High |
| REL | Activation | High |
| RELB | Activation | High |
| CEBPB | Activation | High |
| CREB1 | Activation | High |
| IRF1 | Activation | High |
| IRF4 | Activation | High |
| IRF8 | Activation | High |
| EGR1 | Activation | High |
| FOXO1 | Activation | High |
| NFE2L2 | Activation | High |
| AP1 | Unknown | High |
| JUN | Unknown | High |
| HIF1A | Unknown | High |
Top Repressors (High Confidence):
| TF | Regulation | Confidence |
|---|
| HSF1 | Repression | High |
| KLF4 | Repression | High |
| NR3C1 | Repression | High |
| NFIL3 | Repression | High |
| POU2F1 | Repression | High |
| NFKBIA | Repression | High |
Downstream Targets (Genes regulated by IL1B signaling) - Total: 20+
| Target Gene | Regulation | Function |
|---|
| IL6 | Activation | Inflammatory cytokine |
| VCAM1 | Activation | Cell adhesion |
| SELE | Activation | E-selectin |
| MMP3 | Activation | Matrix metalloproteinase |
| CTSK | Activation | Cathepsin K |
| HAS2 | Activation | Hyaluronan synthase |
| SERPINA3 | Activation | Serine protease inhibitor |
| MC1R | Activation | Melanocortin receptor |
| GDF5 | Repression | Growth factor |
| KRT1 | Repression | Keratin |
| ENPP1 | Repression | Phosphodiesterase |
| DIO1 | Repression | Deiodinase |
Section 10: Drug & Pharmacology Data
ChEMBL Target Information
| ID | Name | Type |
|---|
| CHEMBL1909490 | Interleukin-1 beta | SINGLE PROTEIN |
Targeting Molecules (Top 30 by Development Phase)
| ChEMBL ID | Name | Type | Highest Phase |
|---|
| CHEMBL43452 | Pomalidomide | Small molecule | Phase 4 (Approved) |
| CHEMBL3989927 | Iberdomide | Small molecule | Phase 3 |
| CHEMBL3989934 | Avadomide | Small molecule | Phase 2 |
| CHEMBL1911626 | Preaustinoid A | Small molecule | Phase 0 |
| CHEMBL400514 | Berkeleydione | Small molecule | Phase 0 |
DrugBank Entries (Total: 18)
| DrugBank ID | Notes |
|---|
| DB00843 | |
| DB01017 | |
| DB01296 | |
| DB05133 | |
| DB05260 | |
| DB05412 | |
| DB05442 | |
| DB05470 | |
| DB05507 | |
| DB05767 | |
| DB06168 | |
| DB06372 | |
| DB10772 | |
| DB11994 | |
| DB12119 | |
| DB12140 | |
| DB12899 | |
| DB18736 | |
Pharmacogenomics (PharmGKB)
VIP Gene Status: Yes (Very Important Pharmacogene)
Drug-Gene Associations (24 drugs/drug classes):
| Drug/Class | Clinical Annotations | Variant Annotations |
|---|
| Platinum compounds | 300 | 1138 |
| Bisphosphonates | 23 | 62 |
| Morphine | 43 | 263 |
| Omeprazole | 5 | 183 |
| Lansoprazole | 4 | 90 |
| Rabeprazole | 3 | 86 |
| Sufentanil | 12 | 68 |
| Diclofenac | 7 | 53 |
| Ibuprofen | 8 | 46 |
| Pantoprazole | 3 | 40 |
| Ustekinumab | 7 | 29 |
| Sumatriptan | 8 | 29 |
| Indomethacin | 2 | 13 |
| Rizatriptan | 1 | 12 |
| Naproxen | 3 | 11 |
SIGNOR Signaling Interactions (Total: 39)
Key Regulatory Relationships:
| Entity A | Entity B | Effect | Mechanism |
|---|
| Caspase 1 complex | IL1B | up-regulates activity | cleavage |
| NfKb-p65/p50 | IL1B | up-regulates quantity | transcriptional |
| HIF1A | IL1B | up-regulates quantity | transcriptional |
| IL1B | IL1R1 | up-regulates activity | binding |
| IL1B | IL1RAP | up-regulates | binding |
| IL1B | IL1R2 | down-regulates | binding (decoy) |
| IL1B | IL6 | up-regulates quantity | transcriptional |
| IL1B | STAT3 | up-regulates activity | |
Section 11: Expression Profiles
Tissue Expression (Bgee)
Overall Profile: Ubiquitous expression
Expression Breadth: 228 tissues with detected expression
Maximum Expression Score: 99.48
Top 30 Tissues by Expression Score:
| Rank | Tissue/Cell Type | Score | Quality |
|---|
| 1 | Periodontal ligament | 99.48 | Gold |
| 2 | Granulocyte | 93.93 | Gold |
| 3 | Monocyte | 93.30 | Gold |
| 4 | Leukocyte | 92.97 | Gold |
| 5 | Mononuclear cell | 92.85 | Gold |
| 6 | Blood | 92.04 | Gold |
| 7 | Bone marrow cell | 91.60 | Gold |
| 8 | Bone marrow | 89.22 | Gold |
| 9 | Cartilage tissue | 87.85 | Gold |
| 10 | Pancreatic ductal cell | 86.65 | Silver |
| 11 | Gall bladder | 86.14 | Gold |
| 12 | Vermiform appendix | 86.05 | Gold |
| 13 | Decidua | 85.12 | Gold |
| 14 | Spleen | 83.86 | Gold |
| 15 | Primordial germ cell | 83.69 | Gold |
| 16 | Urinary bladder mucosa | 82.46 | Gold |
| 17 | Stromal cell of endometrium | 81.80 | Gold |
| 18 | Parietal pleura | 81.02 | Gold |
| 19 | Buccal mucosa cell | 81.01 | Gold |
| 20 | Caecum | 80.81 | Gold |
| 21 | Male germ line stem cell | 80.51 | Gold |
| 22 | Smooth muscle tissue | 79.99 | Gold |
| 23 | Palpebral conjunctiva | 79.38 | Gold |
| 24 | Body of stomach | 78.47 | Gold |
| 25 | Gingival epithelium | 78.35 | Gold |
| 26 | Rectum | 77.94 | Gold |
| 27 | Temporal artery | 77.92 | Gold |
| 28 | Pleura | 77.77 | Gold |
| 29 | Gingiva | 77.51 | Gold |
| 30 | Nasal cavity epithelium | 77.09 | Gold |
Single-Cell Expression Datasets (Total: 14)
| Dataset ID | Description | Cells |
|---|
| E-CURD-46 | Crohn's disease lesions - anti-TNF resistance | 124,518 |
| E-HCAD-1 | Ischaemic sensitivity of human tissue | 425,435 |
| E-GEOD-149689 | COVID-19 vs Influenza immunophenotyping | 166,852 |
| E-HCAD-36 | Aortic tissue aneurysm analysis | 71,332 |
| E-GEOD-135922 | Retinal pigment epithelium/choroid | 55,571 |
| E-HCAD-6 | CD34+ bone marrow hematopoiesis | 34,596 |
| E-MTAB-8559 | Ovarian cancer ex vivo models | 20,982 |
| E-GEOD-130148 | Lung Cell Atlas Drop-seq | 14,560 |
| E-MTAB-9067 | Fetal liver/bone marrow haematopoiesis | 5,865 |
| E-GEOD-84465 | Glioblastoma infiltrating cells | 3,588 |
| E-GEOD-89232 | Primary dendritic cells | 957 |
| E-CURD-7 | Adult breast epithelial cells | 867 |
| E-ENAD-21 | Breast epithelial cells | 867 |
| E-MTAB-6075 | LPS/palmitate-stimulated THP-1 macrophages | 254 |
Section 12: Disease Associations
Mendelian Disease Links (GenCC)
| Disease | Classification | Evidence |
|---|
| Hereditary diffuse gastric adenocarcinoma (OMIM:137215) | No Known Disease Relationship | Labcorp Genetics |
Note: IL1B is primarily associated with complex inflammatory diseases rather than monogenic disorders.
Phenotype Associations (HPO)
| HPO ID | Phenotype | Notes |
|---|
| HP:0012126 | Stomach cancer | Association |
| HP:0001442 | Somatic mosaicism | |
| HP:0410067 | Increased L-fucose in urine | |
GWAS Associations (Total: 5)
| Study ID | Trait | P-value | Mapped Gene |
|---|
| GCST006656 | Dysmenorrheic pain severity | 2×10⁻¹⁶ | IL1A - IL1B |
| GCST008751 | Gestational age at birth | 4×10⁻¹⁴ | CKAP2L |
| GCST005038 | Allergic disease (asthma, hay fever, eczema) | 2×10⁻¹⁰ | IL1B |
| GCST008362 | Birth weight | 3×10⁻⁸ | IL1A - IL1B |
| GCST008752 | Post-term birth | 4×10⁻⁸ | CKAP2L |
Disease Context (from Entrez Summary)
IL1B is implicated in:
- Inflammatory response - key mediator
- Osteoarthritis pathogenesis
- COVID-19 - elevated in severe cases (BAL fluid)
- SARS-CoV-2 lung damage (cytokine-mediated)
- Cell proliferation, differentiation, apoptosis
- COX-2 induction in CNS (inflammatory pain)
SUMMARY STATISTICS
| Category | Count |
|---|
| Gene Identifiers | 7 databases |
| Transcripts (Ensembl) | 8 |
| RefSeq mRNAs (Human) | 1 canonical |
| CCDS | 1 |
| Exons (canonical) | 7 |
| UniProt entries | 4 (1 reviewed) |
| Protein domains | 6 |
| PDB structures | 64 |
| AlphaFold models | 1 |
| Orthologs | 4 species |
| Paralogs | 7 |
| ClinVar variants | 41 |
| SpliceAI predictions | 573 |
| AlphaMissense predictions | 1,816 |
| GO terms | 99 |
| Reactome pathways | 9 |
| STRING interactions | 8,488 |
| IntAct interactions | 16 |
| BioGRID interactions | 60 |
| ChEMBL molecules | 100+ |
| DrugBank entries | 18 |
| PharmGKB drug associations | 24 |
| Expression tissues | 228 |
| Single-cell datasets | 14 |
| GWAS associations | 5 |
Reference compiled from BioBTree integrated database. Data sources: HGNC, Ensembl, NCBI, UniProt, PDB, AlphaFold, ClinVar, SpliceAI, AlphaMissense, GO, Reactome, STRING, IntAct, BioGRID, ChEMBL,
DrugBank, PharmGKB, Bgee, SCXA, GWAS Catalog, HPO, GenCC, CollecTRI, SIGNOR.
I’ve compiled a comprehensive cross-database identifier and functional mapping reference for human IL1B (Interleukin-1 beta). The document includes:
Key Highlights:
- 64 PDB structures (highest resolution: 1.16 Å)
- 8,488 protein interactions in STRING
- 1,816 AlphaMissense predictions for missense variants
- 573 SpliceAI splice predictions
- 99 GO annotations covering molecular function, cellular component, and biological processes
- 228 tissues with detected expression (ubiquitous pattern, highest in immune cells)
- 18 DrugBank entries and Pomalidomide as an approved Phase 4 drug
- VIP status in PharmGKB with 24 drug associations
IL1B is a master regulator of inflammation, processed by Caspase-1 from its proform, and signals through IL1R1/IL1RAP. It has strong GWAS associations with dysmenorrheic pain severity (p=2×10⁻¹⁶)
and allergic diseases.