H1-3
gene geneOn this page
Also known as H1.3H1dH1s-2
Summary
H1-3 (H1.3 linker histone, cluster member, HGNC:4717) is a protein-coding gene on chromosome 6p22.2, encoding Histone H1.3 (P16402). Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber.
Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6.
Source: NCBI Gene 3007 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 119 total
- Druggable target: yes
- MANE Select transcript:
NM_005320
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4717 |
| Approved symbol | H1-3 |
| Name | H1.3 linker histone, cluster member |
| Location | 6p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | H1.3, H1d, H1s-2 |
| Ensembl gene | ENSG00000124575 |
| Ensembl biotype | protein_coding |
| OMIM | 142210 |
| Entrez | 3007 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000244534
RefSeq mRNA: 1 — MANE Select: NM_005320
NM_005320
CCDS: CCDS4597
Canonical transcript exons
ENST00000244534 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001989449 | 26234212 | 26234987 |
Expression profiles
Bgee: expression breadth ubiquitous, 156 present calls, max score 96.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 254.4563 / max 3154.6240, expressed in 1711 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72336 | 254.4563 | 1711 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 96.32 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.33 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.37 | gold quality |
| colonic epithelium | UBERON:0000397 | 88.83 | gold quality |
| tendon | UBERON:0000043 | 87.89 | gold quality |
| bone marrow cell | CL:0002092 | 85.82 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.91 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 78.99 | gold quality |
| bone marrow | UBERON:0002371 | 75.64 | gold quality |
| ventricular zone | UBERON:0003053 | 73.01 | gold quality |
| tonsil | UBERON:0002372 | 69.72 | gold quality |
| embryo | UBERON:0000922 | 67.89 | gold quality |
| sural nerve | UBERON:0015488 | 67.69 | gold quality |
| ganglionic eminence | UBERON:0004023 | 67.42 | gold quality |
| blood | UBERON:0000178 | 63.50 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 63.05 | gold quality |
| amniotic fluid | UBERON:0000173 | 63.02 | gold quality |
| thymus | UBERON:0002370 | 61.02 | silver quality |
| corpus callosum | UBERON:0002336 | 60.86 | gold quality |
| heart right ventricle | UBERON:0002080 | 60.59 | gold quality |
| lymph node | UBERON:0000029 | 60.33 | gold quality |
| granulocyte | CL:0000094 | 58.88 | gold quality |
| monocyte | CL:0000576 | 57.61 | gold quality |
| mononuclear cell | CL:0000842 | 57.54 | gold quality |
| gluteal muscle | UBERON:0002000 | 57.51 | gold quality |
| triceps brachii | UBERON:0001509 | 57.36 | gold quality |
| vagina | UBERON:0000996 | 57.28 | gold quality |
| leukocyte | CL:0000738 | 56.70 | gold quality |
| rectum | UBERON:0001052 | 56.68 | gold quality |
| uterine cervix | UBERON:0000002 | 55.06 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-56 | yes | 2996.53 |
| E-MTAB-7407 | yes | 780.27 |
| E-MTAB-8894 | yes | 563.21 |
| E-MTAB-11121 | yes | 345.34 |
| E-MTAB-8271 | yes | 289.22 |
| E-MTAB-9467 | yes | 31.31 |
| E-CURD-122 | yes | 22.33 |
| E-ANND-3 | yes | 8.85 |
| E-MTAB-6911 | no | 182.98 |
| E-MTAB-6108 | no | 165.51 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 7)
- confirmed N-terminal acetylation on all isoforms plus a single internal acetylation site; phosphorylation sites were located on peptides containing the cyclin dependent kinase (CDK) consensus motif (PMID:15595731)
- overexpression of histone cluster 1 is associated with recurrence in meningiomas. (PMID:20685720)
- Mutations in linker histone genes HIST1H1 B, C, D, and E; OCT2 (POU2F2); IRF8; and ARID1A underlying the pathogenesis of follicular lymphoma. (PMID:24435047)
- Integration with apoptotic intermediates (via C-terminal tail interactions) may constitute a more generalized function of linker histone isoforms in apoptotic cascades. (PMID:24525734)
- Histone H1 organizes and maintains an extensive protein-protein interaction network in the nucleolus required for nucleolar structure and integrity. (PMID:25584861)
- Results show that histone H1.3, was identified only in non-neoplastic MCF-10A breast cells but not in metastatic MDA-MB-231 breast cancer cells . (PMID:26209608)
- Data suggest that NPM1mut AML prognosis depends on the epigenetic silencing of the HIST1 cluster and that, among the H3K27me3 silenced histone genes, HIST1H1D plays a role in AML blast differentiation. (PMID:31606046)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | h1l1 | ENSDARG00000074012 |
| danio_rerio | si:dkey-23a13.9 | ENSDARG00000105431 |
| mus_musculus | H1f3 | ENSMUSG00000052565 |
| rattus_norvegicus | H4f3 | ENSRNOG00000090923 |
| caenorhabditis_elegans | WBGENE00001853 | |
| caenorhabditis_elegans | WBGENE00001854 | |
| caenorhabditis_elegans | WBGENE00001855 | |
| caenorhabditis_elegans | hil-5 | WBGENE00001856 |
| caenorhabditis_elegans | WBGENE00001857 |
Paralogs (9): H1-1 (ENSG00000124610), H1-4 (ENSG00000168298), H1-8 (ENSG00000178804), H1-5 (ENSG00000184357), H1-10 (ENSG00000184897), H1-7 (ENSG00000187166), H1-6 (ENSG00000187475), H1-2 (ENSG00000187837), H1-0 (ENSG00000189060)
Protein
Protein identifiers
Histone H1.3 — P16402 (reviewed: P16402)
Alternative names: Histone H1c, Histone H1s-2
All UniProt accessions (1): P16402
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. Together with histone H1-3, histone H1-3 acts as a regulator of splicing, most specifically exon skipping and intron retention events: histone H1-3 has a high affinity for introns and regulates splicing by affecting RNA polymerase II (RNAPII) elongation. Also acts as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation.
Subunit / interactions. Associates with nucleosomes, promoting condensation into higher-order structured chromatin.
Subcellular location. Nucleus. Chromosome.
Post-translational modifications. Deamidation of Asn-77 and Asn-78 by CTPS1 in response to DNA damage promotes subsequent acetylation of histone H1 at Lys-76 (H1K75ac). Acetylated at Lys-76 (H1K75ac) by EP300 following deamidation of Asn-77 and Asn-78 by CTPS1 in response to DNA damage, thereby increasing chromatin accessibility to facilitate the recruitment of DNA repair proteins. H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter. Citrullination at Arg-55 (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.
Domain organisation. The C-terminal domain is required for high-affinity binding to chromatin.
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_005311* (*=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 (52 total): modified residue 32, compositionally biased region 7, strand 4, helix 3, region of interest 2, initiator methionine 1, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7XX5 | X-RAY DIFFRACTION | 3.19 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P16402-F1 | 64.03 | 0.29 |
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 (32): 2, 2, 17, 18, 26, 35, 35, 47, 47, 53, 53, 55, 64, 65, 65, 76, 76, 77, 78, 86 …
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-140342 | Apoptosis induced DNA fragmentation |
| R-HSA-2559584 | Formation of Senescence-Associated Heterochromatin Foci (SAHF) |
MSigDB gene sets: 132 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, REACTOME_APOPTOSIS_INDUCED_DNA_FRAGMENTATION, E2F_Q4_01, GOBP_REGULATION_OF_DNA_RECOMBINATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_NEGATIVE_REGULATION_OF_DNA_RECOMBINATION, GOBP_CHROMOSOME_CONDENSATION, E2F_Q3, GOBP_RNA_SPLICING, MODULE_284, GOBP_REGULATION_OF_MRNA_SPLICING_VIA_SPLICEOSOME, E2F1_Q3, FISCHER_DREAM_TARGETS, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, REACTOME_APOPTOSIS
GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), nucleosome assembly (GO:0006334), chromosome condensation (GO:0030261), negative regulation of DNA recombination (GO:0045910), regulation of mRNA splicing, via spliceosome (GO:0048024), chromatin organization (GO:0006325), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (7): double-stranded DNA binding (GO:0003690), RNA binding (GO:0003723), structural constituent of chromatin (GO:0030527), chromatin DNA binding (GO:0031490), nucleosomal DNA binding (GO:0031492), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (6): chromatin (GO:0000785), nucleosome (GO:0000786), euchromatin (GO:0000791), heterochromatin (GO:0000792), nucleus (GO:0005634), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Apoptotic execution phase | 1 |
| DNA Damage/Telomere Stress Induced Senescence | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| chromatin | 4 |
| transcription by RNA polymerase II | 2 |
| DNA binding | 2 |
| nucleic acid binding | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| 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 |
| mRNA splicing, via spliceosome | 1 |
| regulation of RNA splicing | 1 |
| regulation of mRNA processing | 1 |
| cellular component organization | 1 |
| regulation of DNA-templated transcription | 1 |
| structural molecule activity | 1 |
| chromatin binding | 1 |
| chromatin DNA binding | 1 |
| nucleosome binding | 1 |
| binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| protein-DNA complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
900 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| H1-3 | H2AC20 | Q16777 | 772 |
| H1-3 | H2AC19 | P20670 | 771 |
| H1-3 | H1-7 | Q75WM6 | 762 |
| H1-3 | H2BC21 | Q16778 | 751 |
| H1-3 | H1-8 | Q8IZA3 | 749 |
| H1-3 | H1-2 | P16403 | 622 |
| H1-3 | H1-4 | P10412 | 594 |
| H1-3 | DNMT3B | Q9UBC3 | 497 |
| H1-3 | DNMT1 | P26358 | 490 |
| H1-3 | ANXA6 | P08133 | 473 |
| H1-3 | H2BC9 | Q93079 | 468 |
| H1-3 | NUCLEOLIN | P19338 | 455 |
| H1-3 | PSME3IP1 | Q9GZU8 | 449 |
| H1-3 | H3C1 | P02295 | 438 |
| H1-3 | DFFB | O76075 | 432 |
IntAct
102 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| N | HNRNPR | psi-mi:“MI:0914”(association) | 0.730 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF662 | H1-3 | psi-mi:“MI:0915”(physical association) | 0.590 |
| CCNB1IP1 | H1-3 | psi-mi:“MI:0915”(physical association) | 0.590 |
| H1-3 | HMGA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| Zfp36 | CNOT1 | psi-mi:“MI:0914”(association) | 0.560 |
| YWHAZ | LMNA | psi-mi:“MI:0914”(association) | 0.560 |
| HOXB5 | VPS37C | psi-mi:“MI:0914”(association) | 0.530 |
| USP38 | AHSG | psi-mi:“MI:0914”(association) | 0.530 |
| MOK | H1-3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3HAV1 | KHNYN | psi-mi:“MI:0914”(association) | 0.530 |
| PSG3 | MGRN1 | psi-mi:“MI:0914”(association) | 0.530 |
| EBNA-LP | HAX1 | psi-mi:“MI:0914”(association) | 0.530 |
| PDE6H | H1-3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H1-3 | H1-5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H1-3 | H1-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H1-3 | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H1-3 | H3C13 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H1-3 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| AGPAT2 | H1-3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| MYO1B | H1-3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FRMD6 | H1-3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IVD | H1-3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAPT | C11orf98 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (430): HIST1H1D (Biochemical Activity), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS), HIST1H1D (Affinity Capture-MS)
ESM2 similar proteins: A7MAZ5, D3ZBN0, D4A3K5, G3N131, P02251, P02252, P02253, P02254, P06350, P06893, P07305, P08284, P08285, P08286, P08287, P08288, P09426, P09987, P10412, P15796, P15864, P15865, P15866, P15867, P15870, P16401, P16402, P16403, P21895, P22844, P22845, P23444, P27806, P35060, P40262, P40263, P40264, P40265, P40266, P40275
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 133 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 Senescence-Associated Heterochromatin Foci (SAHF) | 7 | 51.1× | 2e-08 |
| Dengue Virus Genome Translation and Replication | 5 | 17.2× | 1e-03 |
| AUF1 (hnRNP D0) binds and destabilizes mRNA | 5 | 13.5× | 4e-03 |
| Programmed Cell Death | 6 | 9.6× | 4e-03 |
| mRNA Polyadenylation | 8 | 7.6× | 1e-03 |
| Dengue Virus-Host Interactions | 12 | 6.0× | 2e-04 |
| mRNA Splicing - Major Pathway | 9 | 5.3× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of DNA recombination | 5 | 46.0× | 5e-05 |
| chromosome condensation | 5 | 34.5× | 9e-05 |
| nucleosome assembly | 9 | 10.4× | 9e-05 |
| negative regulation of translation | 6 | 9.6× | 6e-03 |
| endocytosis | 8 | 6.2× | 6e-03 |
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
119 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 109 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
114 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:26234270:A:AC | donor_gain | 0.6500 |
| 6:26234271:C:CC | donor_gain | 0.6500 |
| 6:26234459:CCTT:C | donor_gain | 0.6400 |
| 6:26234454:CTTTA:C | donor_loss | 0.6200 |
| 6:26234455:TTTA:T | donor_loss | 0.6200 |
| 6:26234456:TTA:T | donor_loss | 0.6200 |
| 6:26234457:TACC:T | donor_loss | 0.6200 |
| 6:26234459:C:A | donor_loss | 0.6200 |
| 6:26234460:C:G | donor_loss | 0.5900 |
| 6:26234300:TTGTA:T | donor_gain | 0.5700 |
| 6:26234669:CCAAG:C | donor_gain | 0.5600 |
| 6:26234543:T:TA | donor_gain | 0.5200 |
| 6:26234362:G:C | donor_gain | 0.4900 |
| 6:26234507:C:CT | donor_gain | 0.4800 |
| 6:26234508:C:CT | donor_gain | 0.4600 |
| 6:26234296:G:A | donor_gain | 0.4400 |
| 6:26234316:C:A | donor_gain | 0.4400 |
| 6:26234325:A:AC | donor_gain | 0.4400 |
| 6:26234652:CAGAG:C | donor_gain | 0.4400 |
| 6:26234655:A:AC | donor_gain | 0.4400 |
| 6:26234661:TTTGC:T | donor_loss | 0.4400 |
| 6:26234662:TTGCT:T | donor_loss | 0.4400 |
| 6:26234663:TGCT:T | donor_loss | 0.4400 |
| 6:26234664:GCT:G | donor_loss | 0.4400 |
| 6:26234665:C:T | donor_loss | 0.4400 |
| 6:26234666:T:TG | donor_loss | 0.4400 |
| 6:26234667:CA:C | donor_loss | 0.4400 |
| 6:26234668:ACCA:A | donor_loss | 0.4400 |
| 6:26234669:CCAA:C | donor_loss | 0.4400 |
| 6:26234651:CCAGA:C | donor_gain | 0.4300 |
AlphaMissense
1413 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:26234616:G:C | F106L | 1.000 |
| 6:26234616:G:T | F106L | 1.000 |
| 6:26234617:A:G | F106S | 1.000 |
| 6:26234618:A:G | F106L | 1.000 |
| 6:26234617:A:C | F106C | 0.999 |
| 6:26234623:C:T | G104D | 0.999 |
| 6:26234632:C:T | G101D | 0.999 |
| 6:26234638:C:T | G99D | 0.999 |
| 6:26234639:C:A | G99C | 0.999 |
| 6:26234639:C:G | G99R | 0.999 |
| 6:26234653:A:T | L94Q | 0.999 |
| 6:26234680:A:T | L85H | 0.999 |
| 6:26234742:C:A | K64N | 0.999 |
| 6:26234742:C:G | K64N | 0.999 |
| 6:26234764:C:T | G57D | 0.999 |
| 6:26234765:C:G | G57R | 0.999 |
| 6:26234623:C:A | G104V | 0.998 |
| 6:26234624:C:A | G104C | 0.998 |
| 6:26234624:C:G | G104R | 0.998 |
| 6:26234629:G:T | A102D | 0.998 |
| 6:26234638:C:A | G99V | 0.998 |
| 6:26234639:C:T | G99S | 0.998 |
| 6:26234692:A:C | I81S | 0.998 |
| 6:26234692:A:G | I81T | 0.998 |
| 6:26234695:C:G | R80P | 0.998 |
| 6:26234696:G:T | R80S | 0.998 |
| 6:26234734:A:T | L67H | 0.998 |
| 6:26234746:A:T | L63H | 0.998 |
| 6:26234800:A:C | I45S | 0.998 |
| 6:26234800:A:T | I45N | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000001786 (6:26234203 T>A,C), RS1000688486 (6:26234106 C>A,T), RS1000795773 (6:26234709 T>C,G), RS1001326976 (6:26234124 A>G), RS1001559225 (6:26234994 T>A,C,G), RS1002001753 (6:26235244 A>G), RS1002565132 (6:26234105 A>G), RS1003004962 (6:26236576 C>T), RS1003180995 (6:26233987 A>C,G,T), RS1003233288 (6:26236187 T>C), RS1003288000 (6:26236175 T>A), RS1004369486 (6:26235902 ATT>A,AT,ATTT), RS1004423517 (6:26236143 C>T), RS1005064947 (6:26236091 A>G), RS1005861220 (6:26233894 C>G)
Disease associations
OMIM: gene MIM:142210 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000176_8 | Height | 4.000000e-17 |
| GCST000372_10 | Height | 6.000000e-12 |
| GCST004521_113 | Autism spectrum disorder or schizophrenia | 3.000000e-19 |
| GCST004521_142 | Autism spectrum disorder or schizophrenia | 2.000000e-09 |
| GCST004521_169 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_69 | Autism spectrum disorder or schizophrenia | 8.000000e-24 |
| GCST004521_83 | Autism spectrum disorder or schizophrenia | 1.000000e-13 |
| GCST006100_2 | Strenuous sports or other exercises | 1.000000e-09 |
| GCST007294_143 | Body fat distribution (trunk fat ratio) | 5.000000e-29 |
| GCST007294_82 | Body fat distribution (trunk fat ratio) | 1.000000e-48 |
| GCST007295_120 | Body fat distribution (leg fat ratio) | 2.000000e-46 |
| GCST007295_91 | Body fat distribution (leg fat ratio) | 1.000000e-26 |
| GCST010141_1 | Beef consumption | 7.000000e-13 |
| GCST010143_19 | Meat-related diet | 5.000000e-13 |
| GCST010143_31 | Meat-related diet | 7.000000e-09 |
| GCST010143_5 | Meat-related diet | 4.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008002 | physical activity measurement |
| EFO:0004341 | body fat distribution |
| EFO:0008111 | diet measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066306 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
67 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance | 3 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| bisphenol A | decreases expression | 2 |
| trichostatin A | decreases expression | 2 |
| perfluorooctanoic acid | decreases expression, increases expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| afuresertib | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| geldanamycin | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| 2-methyl-4-isothiazolin-3-one | decreases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| ochratoxin A | decreases expression, affects cotreatment | 1 |
| versicolorin A | decreases expression | 1 |
| hydroquinone | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| mercuric bromide | decreases expression | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| picene | increases expression | 1 |
| tamibarotene | affects expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 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 |
|---|---|---|---|
| CHEMBL5652910 | Binding | Binding affinity to human HIST1H1D 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_C9JY | WAe001-A-89 | Embryonic stem cell | Male |
| CVCL_C9JZ | WAe001-A-90 | Embryonic stem cell | Male |
| CVCL_C9KA | WAe001-A-C | Embryonic stem cell | Male |
| CVCL_C9KB | WAe001-A-D | Embryonic stem cell | Male |
| CVCL_C9KK | WAe001-A-M | Embryonic stem cell | Male |
| CVCL_C9KL | WAe001-A-N | Embryonic stem cell | Male |
| CVCL_C9KX | WAe001-A-Y | Embryonic stem cell | Male |
| CVCL_C9KY | WAe001-A-Z | Embryonic stem cell | Male |
| CVCL_C9L3 | WAe001-A-1E | Embryonic stem cell | Male |
| CVCL_C9L4 | WAe001-A-1F | 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.