H1-10
gene geneOn this page
Also known as MGC15959MGC8350H1X
Summary
H1-10 (H1.10 linker histone, HGNC:4722) is a protein-coding gene on chromosome 3q21.3, encoding Histone H1.10 (Q92522). Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber.
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H1 family.
Source: NCBI Gene 8971 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 31 total
- Druggable target: yes
- MANE Select transcript:
NM_006026
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4722 |
| Approved symbol | H1-10 |
| Name | H1.10 linker histone |
| Location | 3q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC15959, MGC8350, H1X |
| Ensembl gene | ENSG00000184897 |
| Ensembl biotype | protein_coding |
| OMIM | 602785 |
| Entrez | 8971 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000333762, ENST00000704995
RefSeq mRNA: 1 — MANE Select: NM_006026
NM_006026
CCDS: CCDS3057
Canonical transcript exons
ENST00000333762 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001300166 | 129314771 | 129316286 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 99.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 379.6171 / max 3718.0195, expressed in 1827 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 44507 | 378.3323 | 1827 |
| 44508 | 1.2848 | 915 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 99.39 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.36 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.97 | gold quality |
| embryo | UBERON:0000922 | 98.88 | gold quality |
| thymus | UBERON:0002370 | 98.86 | gold quality |
| cortical plate | UBERON:0005343 | 98.76 | gold quality |
| ectocervix | UBERON:0012249 | 98.14 | gold quality |
| right ovary | UBERON:0002118 | 98.12 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.09 | gold quality |
| right uterine tube | UBERON:0001302 | 98.03 | gold quality |
| left ovary | UBERON:0002119 | 98.00 | gold quality |
| left uterine tube | UBERON:0001303 | 97.99 | gold quality |
| skin of leg | UBERON:0001511 | 97.89 | gold quality |
| endometrium epithelium | UBERON:0004811 | 97.73 | gold quality |
| endocervix | UBERON:0000458 | 97.69 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.62 | gold quality |
| right lung | UBERON:0002167 | 97.48 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.27 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.23 | gold quality |
| body of uterus | UBERON:0009853 | 97.18 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.16 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.15 | gold quality |
| monocyte | CL:0000576 | 97.11 | gold quality |
| granulocyte | CL:0000094 | 97.09 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.08 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.07 | gold quality |
| lower esophagus | UBERON:0013473 | 97.06 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.00 | gold quality |
| paraflocculus | UBERON:0005351 | 96.91 | gold quality |
| mononuclear cell | CL:0000842 | 96.90 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-79 | yes | 1405.11 |
| E-MTAB-8205 | yes | 557.57 |
| E-HCAD-4 | yes | 57.00 |
| E-CURD-46 | yes | 38.24 |
| E-CURD-122 | yes | 17.13 |
| E-ANND-3 | yes | 15.80 |
| E-GEOD-125970 | yes | 7.26 |
| E-HCAD-6 | no | 42.53 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
23 targeting H1-10, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-4650-3P | 99.01 | 68.39 | 1062 |
| HSA-MIR-3132 | 97.96 | 67.91 | 711 |
| HSA-MIR-4665-5P | 97.91 | 67.69 | 1536 |
| HSA-MIR-197-5P | 97.23 | 68.10 | 596 |
| HSA-MIR-939-5P | 97.10 | 65.80 | 1579 |
| HSA-MIR-550B-2-5P | 96.56 | 64.61 | 646 |
| HSA-MIR-1343-5P | 96.48 | 66.06 | 1506 |
Literature-anchored findings (GeneRIF, showing 5)
- comparison of primary aa sequence with other human H1 subtypes, and H1x from different species, generation of specific antibody, expression in different cell lines (PMID:16006241)
- These results suggest that the differential localization of H1x provides a mechanism for a control of H1x activity by means of shuttling between nuclear subcompartments instead of a controlled turnover of the protein. (PMID:17868027)
- study concludes that the high expression of histone H1x in neuroendocrine tumours is probably due to the abundance of this protein in the cells from which these tumours originate (PMID:19108733)
- Genomic profiling of six human somatic histone H1 variants denotes that H1X accumulates at recently incorporated transposable elements. (PMID:38261975)
- MEF2D facilitates liver metastasis of gastric cancer cells through directly inducing H1X under IL-13 stimulation. (PMID:38609001)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | h1-10 | ENSDARG00000054058 |
| mus_musculus | H1f10 | ENSMUSG00000044927 |
| rattus_norvegicus | H1f10 | ENSRNOG00000027722 |
| caenorhabditis_elegans | WBGENE00001853 | |
| caenorhabditis_elegans | WBGENE00001854 | |
| caenorhabditis_elegans | WBGENE00001855 | |
| caenorhabditis_elegans | hil-5 | WBGENE00001856 |
| caenorhabditis_elegans | WBGENE00001857 |
Paralogs (9): H1-3 (ENSG00000124575), H1-1 (ENSG00000124610), H1-4 (ENSG00000168298), H1-8 (ENSG00000178804), H1-5 (ENSG00000184357), H1-7 (ENSG00000187166), H1-6 (ENSG00000187475), H1-2 (ENSG00000187837), H1-0 (ENSG00000189060)
Protein
Protein identifiers
Histone H1.10 — Q92522 (reviewed: Q92522)
Alternative names: Histone H1x
All UniProt accessions (2): A0A994J4R3, Q92522
UniProt curated annotations — full annotation on UniProt →
Function. Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers and promote formation of the H3K27me3 mark by the PRC2/EED-EZH2 complex.
Subunit / interactions. Associates with nucleosomes, promoting condensation into higher-order structured chromatin. Interacts with RRP1B.
Subcellular location. Nucleus. Nucleolus. Chromosome.
Tissue specificity. Expressed ubiquitously.
Post-translational modifications. Citrullination at Arg-62 (H1R54ci) by PADI4 takes place within the DNA-binding site of H1 and results in its displacement from chromatin and global chromatin decondensation, thereby promoting pluripotency and stem cell maintenance.
Induction. Expression is activated by transcription factor CRAMP1, in collaboration with NPAT and GON4L.
Similarity. Belongs to the histone H1/H5 family.
RefSeq proteins (1): NP_006017* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005818 | Histone_H1/H5_H15 | Domain |
| IPR005819 | H1/H5 | Family |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
Pfam: PF00538
UniProt features (27 total): modified residue 9, compositionally biased region 5, helix 3, turn 3, strand 2, region of interest 2, initiator methionine 1, chain 1, domain 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6L9Z | X-RAY DIFFRACTION | 2.5 |
| 8YTI | X-RAY DIFFRACTION | 2.7 |
| 7K63 | ELECTRON MICROSCOPY | 3.03 |
| 7K60 | ELECTRON MICROSCOPY | 3.12 |
| 2LSO | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92522-F1 | 66.44 | 0.36 |
Antibody-complex structures (SAbDab): 2 — 7K60, 7K63
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 (9): 2, 2, 31, 33, 47, 62, 94, 115, 188
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 194 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_DNA_RECOMBINATION, PAX4_01, DAZARD_UV_RESPONSE_CLUSTER_G4, GOBP_NEGATIVE_REGULATION_OF_DNA_RECOMBINATION, AP2_Q3, GOBP_CHROMOSOME_CONDENSATION, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, NF1_Q6_01, BLALOCK_ALZHEIMERS_DISEASE_UP, PU1_Q6, TGGNNNNNNKCCAR_UNKNOWN, MODULE_98, LIU_CMYB_TARGETS_UP, chr3q21
GO Biological Process (3): nucleosome assembly (GO:0006334), chromosome condensation (GO:0030261), negative regulation of DNA recombination (GO:0045910)
GO Molecular Function (6): double-stranded DNA binding (GO:0003690), RNA binding (GO:0003723), structural constituent of chromatin (GO:0030527), nucleosomal DNA binding (GO:0031492), cadherin binding (GO:0045296), DNA binding (GO:0003677)
GO Cellular Component (5): nucleosome (GO:0000786), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 2 |
| chromatin | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| chromatin organization | 1 |
| nucleosome organization | 1 |
| protein-DNA complex assembly | 1 |
| chromosome organization | 1 |
| regulation of DNA recombination | 1 |
| DNA recombination | 1 |
| negative regulation of DNA metabolic process | 1 |
| DNA binding | 1 |
| structural molecule activity | 1 |
| chromatin DNA binding | 1 |
| nucleosome binding | 1 |
| cell adhesion molecule binding | 1 |
| protein-DNA complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1096 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| H1-10 | H1-7 | Q75WM6 | 946 |
| H1-10 | H1-8 | Q8IZA3 | 942 |
| H1-10 | H1-6 | P22492 | 903 |
| H1-10 | TACC2 | O95359 | 465 |
| H1-10 | ZNF16 | P17020 | 461 |
| H1-10 | H2AC19 | P20670 | 439 |
| H1-10 | SRSF3 | P23152 | 437 |
| H1-10 | H2AC20 | Q16777 | 437 |
| H1-10 | SRSF7 | Q16629 | 436 |
| H1-10 | LMOD1 | P29536 | 425 |
| H1-10 | ANXA7 | P20073 | 423 |
| H1-10 | RALY | Q9UKM9 | 415 |
| H1-10 | FAXDC2 | Q96IV6 | 408 |
| H1-10 | H2BC21 | Q16778 | 407 |
| H1-10 | GYG1 | P46976 | 406 |
IntAct
278 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAP3K14 | CHUK | psi-mi:“MI:0914”(association) | 0.950 |
| NS | PIK3R2 | psi-mi:“MI:0914”(association) | 0.750 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| EPN1 | PHGDH | psi-mi:“MI:0914”(association) | 0.710 |
| FAM90A1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.670 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.550 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| CBX6 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| KPNB1 | POM121C | psi-mi:“MI:0914”(association) | 0.530 |
| MAP4K4 | STRN | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13 | RPLP1 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP1B | NPM1 | psi-mi:“MI:0914”(association) | 0.510 |
| H1-10 | RRP1B | psi-mi:“MI:0403”(colocalization) | 0.510 |
| FNBP1 | FNBP1L | psi-mi:“MI:0914”(association) | 0.500 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| AIFM1 | SEC16A | psi-mi:“MI:2364”(proximity) | 0.420 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| H1-10 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| RNF168 | H1-10 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (348): H1FX (Affinity Capture-MS), H1FX (Affinity Capture-MS), H1FX (Affinity Capture-MS), H1FX (Affinity Capture-MS), H1FX (Affinity Capture-MS), H1FX (Affinity Capture-MS), H1FX (Affinity Capture-MS), H1FX (Affinity Capture-MS), H1FX (Affinity Capture-MS), H1FX (Co-fractionation), H1FX (Co-fractionation), H1FX (Affinity Capture-MS), H1FX (Affinity Capture-MS), H1FX (Affinity Capture-MS), H1FX (Affinity Capture-MS)
ESM2 similar proteins: B0B8W9, D0KZ81, K9NVA6, O31163, O52340, O61016, P06228, P07242, P0C9X7, P0C9X8, P0C9X9, P0C9Y0, P0CE15, P10156, P12305, P20538, P25886, P40268, P47914, P55549, P69110, P69112, P69113, P69114, P69115, P69119, P69120, P69121, P69122, P69123, P69125, Q06281, Q29187, Q45881, Q46204, Q54BQ3, Q54LW6, Q5UPU2, Q75C22, Q86HQ8
Diamond homologs: A7MAZ5, D3ZBN0, D3ZZW6, D4A3K5, G3N131, O01833, O16277, P02251, P02252, P02253, P02254, P02255, P02256, P02257, P02258, P02259, P06144, P06348, P06349, P06350, P06513, P06892, P06893, P06894, P07305, P07796, P08284, P08285, P08286, P08287, P08288, P09426, P09987, P10412, P10922, P15796, P15864, P15865, P15866, P15867
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 206 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of the ternary complex, and subsequently, the 43S complex | 8 | 11.5× | 2e-05 |
| SRP-dependent cotranslational protein targeting to membrane | 17 | 11.3× | 8e-11 |
| Eukaryotic Translation Termination | 14 | 11.2× | 3e-09 |
| Formation of a pool of free 40S subunits | 15 | 11.2× | 8e-10 |
| Peptide chain elongation | 13 | 11.0× | 1e-08 |
| Viral mRNA Translation | 13 | 11.0× | 1e-08 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 14 | 11.0× | 3e-09 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 13 | 10.9× | 1e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 16 | 16.4× | 3e-12 |
| ribosomal small subunit biogenesis | 7 | 8.8× | 4e-03 |
| negative regulation of translation | 8 | 8.7× | 2e-03 |
| translation | 15 | 8.5× | 2e-07 |
| rRNA processing | 9 | 7.0× | 2e-03 |
| protein import into nucleus | 8 | 6.4× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 31 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
248 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:129315263:A:AC | donor_gain | 0.9900 |
| 3:129315264:C:CC | donor_gain | 0.9900 |
| 3:129315275:TGGGC:T | donor_gain | 0.9500 |
| 3:129315246:G:T | donor_gain | 0.9400 |
| 3:129315264:CTTG:C | donor_gain | 0.9100 |
| 3:129315321:G:A | donor_gain | 0.9100 |
| 3:129315267:G:A | donor_gain | 0.9000 |
| 3:129315317:T:A | donor_gain | 0.9000 |
| 3:129315193:CG:C | donor_gain | 0.8900 |
| 3:129315351:G:A | donor_gain | 0.8900 |
| 3:129315267:GCGGC:G | donor_gain | 0.8800 |
| 3:129315268:CGGCC:C | donor_gain | 0.8800 |
| 3:129315213:CAAAA:C | donor_gain | 0.8400 |
| 3:129315214:AAAAA:A | donor_gain | 0.8400 |
| 3:129315217:A:AC | donor_gain | 0.8400 |
| 3:129315243:T:TA | donor_gain | 0.8400 |
| 3:129315244:CTG:C | donor_gain | 0.8300 |
| 3:129315250:G:T | donor_gain | 0.8300 |
| 3:129315271:C:A | donor_gain | 0.8100 |
| 3:129315341:T:TA | donor_gain | 0.8000 |
| 3:129315249:C:CT | donor_gain | 0.7800 |
| 3:129315065:AACC:A | acceptor_loss | 0.7500 |
| 3:129315068:CTA:C | acceptor_loss | 0.7500 |
| 3:129315219:C:CT | donor_gain | 0.7500 |
| 3:129315232:ACG:A | donor_gain | 0.7400 |
| 3:129315233:CGC:C | donor_gain | 0.7400 |
| 3:129315195:TC:T | donor_gain | 0.7300 |
| 3:129315224:AAAAG:A | donor_gain | 0.7300 |
| 3:129315310:TTCAC:T | donor_loss | 0.7300 |
| 3:129315311:TCACC:T | donor_loss | 0.7300 |
AlphaMissense
1361 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:129315561:G:C | F114L | 1.000 |
| 3:129315561:G:T | F114L | 1.000 |
| 3:129315562:A:C | F114C | 1.000 |
| 3:129315562:A:G | F114S | 1.000 |
| 3:129315563:A:G | F114L | 1.000 |
| 3:129315568:C:T | G112D | 1.000 |
| 3:129315569:C:G | G112R | 1.000 |
| 3:129315577:C:T | G109D | 1.000 |
| 3:129315583:C:T | G107D | 1.000 |
| 3:129315584:C:G | G107R | 1.000 |
| 3:129315598:A:G | L102P | 1.000 |
| 3:129315598:A:T | L102H | 1.000 |
| 3:129315616:A:G | L96P | 1.000 |
| 3:129315625:A:T | I93N | 1.000 |
| 3:129315631:T:C | Y91C | 1.000 |
| 3:129315632:A:C | Y91D | 1.000 |
| 3:129315632:A:G | Y91H | 1.000 |
| 3:129315637:A:G | L89P | 1.000 |
| 3:129315637:A:T | L89H | 1.000 |
| 3:129315641:A:C | Y88D | 1.000 |
| 3:129315649:C:T | G85E | 1.000 |
| 3:129315663:G:C | F80L | 1.000 |
| 3:129315663:G:T | F80L | 1.000 |
| 3:129315664:A:G | F80S | 1.000 |
| 3:129315665:A:G | F80L | 1.000 |
| 3:129315712:C:A | G64V | 1.000 |
| 3:129315712:C:T | G64D | 1.000 |
| 3:129315713:C:G | G64R | 1.000 |
| 3:129315736:A:T | I56N | 1.000 |
| 3:129315760:T:C | Y48C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000300176 (3:129314955 C>G), RS1000650884 (3:129314784 C>A,T), RS1001035078 (3:129316140 A>G), RS1001267679 (3:129315042 G>A), RS1001404877 (3:129314905 C>T), RS1001805744 (3:129315125 C>G,T), RS1001962182 (3:129315325 C>A,T), RS1002941395 (3:129316446 C>T), RS1003414254 (3:129317442 G>A), RS1003572993 (3:129317634 G>A), RS1003751029 (3:129317173 C>A,G), RS1003764547 (3:129317175 G>A,C), RS1003817117 (3:129317401 A>G), RS1004862631 (3:129316278 C>A,T), RS1005291660 (3:129317145 C>G,T)
Disease associations
OMIM: gene MIM:602785 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002647_15 | Height | 8.000000e-25 |
| GCST005863_10 | Menopause (age at onset) | 2.000000e-18 |
| GCST005863_3 | Menopause (age at onset) | 1.000000e-16 |
| GCST005956_82 | Waist-to-hip ratio adjusted for BMI | 2.000000e-07 |
| GCST005958_5 | Waist-to-hip ratio adjusted for BMI (age >50) | 4.000000e-10 |
| GCST005962_16 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 2.000000e-11 |
| GCST011122_47 | Walking pace | 6.000000e-11 |
| GCST90000025_948 | Appendicular lean mass | 2.000000e-33 |
| GCST90020025_589 | Waist-to-hip ratio adjusted for BMI | 2.000000e-10 |
| GCST90020027_366 | Waist-hip index | 6.000000e-10 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004704 | age at menopause |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067287 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.78 | Kd | 16.72 | nM | CHEMBL5653589 |
| 7.78 | ED50 | 16.72 | nM | CHEMBL5653589 |
| 5.14 | Kd | 7240 | nM | CHEMBL3752910 |
| 5.14 | ED50 | 7240 | 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 | 2148480: Binding affinity to human H1FX incubated for 45 mins by Kinobead based pull down assay | kd | 0.0167 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148480: Binding affinity to human H1FX incubated for 45 mins by Kinobead based pull down assay | kd | 7.2395 | uM |
CTD chemical–gene interactions
68 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| Valproic Acid | affects expression, decreases expression, increases expression | 3 |
| deoxynivalenol | increases expression | 2 |
| (+)-JQ1 compound | increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Cisplatin | decreases expression | 2 |
| Smoke | increases abundance, increases expression, decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| Particulate Matter | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| urushiol | decreases expression | 1 |
| glycidyl methacrylate | increases expression | 1 |
| lead acetate | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| periodate-oxidized adenosine | affects expression | 1 |
| nickel sulfate | increases expression | 1 |
| cupric oxide | decreases expression | 1 |
| chromium hexavalent ion | increases abundance, decreases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| belinostat | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases 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 |
|---|---|---|---|
| CHEMBL5651522 | Binding | Binding affinity to human H1FX 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 |
Cellosaurus cell lines
14 cell lines: 14 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C0CA | WAe001-A-78 | Embryonic stem cell | Male |
| CVCL_C9JR | WAe001-A-82 | Embryonic stem cell | Male |
| CVCL_C9K4 | WAe001-A-96 | Embryonic stem cell | Male |
| CVCL_C9K5 | WAe001-A-97 | Embryonic stem cell | Male |
| CVCL_C9K6 | WAe001-A-98 | Embryonic stem cell | Male |
| CVCL_C9K7 | WAe001-A-99 | Embryonic stem cell | Male |
| CVCL_C9K8 | WAe001-A-A | Embryonic stem cell | Male |
| CVCL_C9K9 | WAe001-A-B | Embryonic stem cell | Male |
| CVCL_C9KA | WAe001-A-C | Embryonic stem cell | Male |
| CVCL_C9KB | WAe001-A-D | Embryonic stem cell | Male |
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.