H1-1
gene geneOn this page
Also known as H1.1H1a
Summary
H1-1 (H1.1 linker histone, cluster member, HGNC:4715) is a protein-coding gene on chromosome 6p22.2, encoding Histone H1.1 (Q02539). 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 3024 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 87 total — 1 pathogenic
- MANE Select transcript:
NM_005325
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4715 |
| Approved symbol | H1-1 |
| Name | H1.1 linker histone, cluster member |
| Location | 6p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | H1.1, H1a |
| Ensembl gene | ENSG00000124610 |
| Ensembl biotype | protein_coding |
| OMIM | 142709 |
| Entrez | 3024 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000244573
RefSeq mRNA: 1 — MANE Select: NM_005325
NM_005325
CCDS: CCDS4569
Canonical transcript exons
ENST00000244573 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000848411 | 26017032 | 26017787 |
Expression profiles
Bgee: expression breadth broad, 42 present calls, max score 98.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 72.3610 / max 3859.4261, expressed in 1254 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72291 | 70.4639 | 1237 |
| 72289 | 1.4305 | 436 |
| 72290 | 0.4666 | 201 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 98.32 | gold quality |
| secondary oocyte | CL:0000655 | 95.13 | gold quality |
| buccal mucosa cell | CL:0002336 | 88.63 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.43 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 84.92 | gold quality |
| calcaneal tendon | UBERON:0003701 | 77.64 | gold quality |
| tendon | UBERON:0000043 | 77.62 | gold quality |
| diaphragm | UBERON:0001103 | 74.53 | gold quality |
| adrenal tissue | UBERON:0018303 | 74.50 | gold quality |
| endometrium epithelium | UBERON:0004811 | 69.15 | gold quality |
| paraflocculus | UBERON:0005351 | 68.37 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 68.26 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 68.25 | gold quality |
| frontal pole | UBERON:0002795 | 67.94 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 64.98 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 63.91 | gold quality |
| cerebellar vermis | UBERON:0004720 | 62.84 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 62.65 | gold quality |
| gingival epithelium | UBERON:0001949 | 62.01 | gold quality |
| superficial temporal artery | UBERON:0001614 | 61.88 | gold quality |
| hair follicle | UBERON:0002073 | 61.86 | gold quality |
| bone marrow cell | CL:0002092 | 61.38 | silver quality |
| vastus lateralis | UBERON:0001379 | 61.08 | gold quality |
| quadriceps femoris | UBERON:0001377 | 60.46 | gold quality |
| gingiva | UBERON:0001828 | 60.17 | gold quality |
| squamous epithelium | UBERON:0006914 | 60.15 | gold quality |
| jejunal mucosa | UBERON:0000399 | 59.58 | gold quality |
| biceps brachii | UBERON:0001507 | 58.97 | gold quality |
| myocardium | UBERON:0002349 | 58.18 | gold quality |
| gluteal muscle | UBERON:0002000 | 57.86 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-3929 | yes | 1533.29 |
| E-HCAD-56 | yes | 1137.80 |
| E-ANND-3 | no | 1.21 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 11)
- the C-terminal domain is the primary determinant of histone H1 binding to chromatin in vivo (PMID:14985337)
- 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)
- histone H2A.X phosphorylation by DNA-dependent protein kinase is not affected by core histone acetylation, but it alters nucleosome stability and histone H1 binding (PMID:20356835)
- Data show that the multifunctional histone chaperone NPM1 interacts with linker histone H1 through its first acidic stretch (residues 120-132). (PMID:21425800)
- fluorescence recovery after photobleaching analyses suggested that TAF-I beta enhances the dissociation of H1.1 from chromatin in the living cell (PMID:21940793)
- Integration with apoptotic intermediates (via C-terminal tail interactions) may constitute a more generalized function of linker histone isoforms in apoptotic cascades. (PMID:24525734)
- Results suggest the potential for histone H1 phosphorylation at threonine 146 as a clinical biomarker in breast cancer. (PMID:24601643)
- HIST1 cluster PcG methylation has a role in epigenesis in acute myeloid leukemia (PMID:25482132)
- Proper binding of histone H1.1 to chromatin is determined by the simultaneous and synergistic binding of its folded wing helix domain -C-terminal domains to the nucleosome. (PMID:26182371)
- Data indicate that IgGs possessing an affinity to histone H1 were isolated by affinity chromatography and size exclusion chromatography. (PMID:28361854)
- Brain age estimation at tract group level and its association with daily life measures, cardiac risk factors and genetic variants. (PMID:34663856)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | H1f1 | ENSMUSG00000049539 |
| caenorhabditis_elegans | WBGENE00001853 | |
| caenorhabditis_elegans | WBGENE00001854 | |
| caenorhabditis_elegans | WBGENE00001855 | |
| caenorhabditis_elegans | hil-5 | WBGENE00001856 |
| caenorhabditis_elegans | WBGENE00001857 |
Paralogs (9): H1-3 (ENSG00000124575), 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 H1.1 — Q02539 (reviewed: Q02539)
Alternative names: Histone H1a
All UniProt accessions (1): Q02539
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. 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. Interacts with DFFB.
Subcellular location. Nucleus. Chromosome.
Post-translational modifications. Deamidation of Asn-79 and Asn-80 by CTPS1 in response to DNA damage promotes subsequent acetylation of histone H1 at Lys-78 (H1K75ac). Acetylated at Lys-78 (H1K75ac) by EP300 following deamidation of Asn-79 and Asn-80 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-57 (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.
Similarity. Belongs to the histone H1/H5 family.
RefSeq proteins (1): NP_005316* (*=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 (45 total): modified residue 31, compositionally biased region 4, sequence variant 3, region of interest 2, mutagenesis site 2, initiator methionine 1, chain 1, domain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9J8O | ELECTRON MICROSCOPY | 4.05 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q02539-F1 | 64.40 | 0.31 |
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 (31): 2, 12, 17, 26, 37, 37, 44, 55, 55, 57, 66, 67, 67, 78, 79, 80, 88, 88, 93, 93 …
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 152 | significant destabilization of binding to chromatin. |
| 183 | significant destabilization of binding to chromatin. |
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: 126 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_CHROMOSOME_ORGANIZATION, REACTOME_APOPTOSIS_INDUCED_DNA_FRAGMENTATION, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, CMYB_01, GOBP_NEGATIVE_REGULATION_OF_DNA_RECOMBINATION, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MALE_GAMETE_GENERATION, GOBP_POSITIVE_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS, GOBP_CHROMOSOME_CONDENSATION, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS
GO Biological Process (5): nucleosome assembly (GO:0006334), spermatogenesis (GO:0007283), chromosome condensation (GO:0030261), negative regulation of DNA recombination (GO:0045910), positive regulation of receptor-mediated endocytosis (GO:0048260)
GO Molecular Function (7): double-stranded DNA binding (GO:0003690), heparin binding (GO:0008201), 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 (8): chromatin (GO:0000785), nucleosome (GO:0000786), euchromatin (GO:0000791), nucleus (GO:0005634), nucleoplasm (GO:0005654), cell surface (GO:0009986), vesicle (GO:0031982), 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 | 3 |
| cellular anatomical structure | 3 |
| DNA binding | 2 |
| chromatin organization | 1 |
| nucleosome organization | 1 |
| protein-DNA complex assembly | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| chromosome organization | 1 |
| regulation of DNA recombination | 1 |
| DNA recombination | 1 |
| negative regulation of DNA metabolic process | 1 |
| receptor-mediated endocytosis | 1 |
| positive regulation of endocytosis | 1 |
| regulation of receptor-mediated endocytosis | 1 |
| glycosaminoglycan binding | 1 |
| sulfur compound binding | 1 |
| structural molecule activity | 1 |
| chromatin binding | 1 |
| chromatin DNA binding | 1 |
| nucleosome binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosome | 1 |
| protein-DNA complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1022 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| H1-1 | H2AC19 | P20670 | 994 |
| H1-1 | H2AC20 | Q16777 | 994 |
| H1-1 | H2BC21 | Q16778 | 983 |
| H1-1 | H1-7 | Q75WM6 | 922 |
| H1-1 | H1-8 | Q8IZA3 | 856 |
| H1-1 | H1-5 | P16401 | 851 |
| H1-1 | CXCL11 | O14625 | 776 |
| H1-1 | H2AC1 | Q96QV6 | 747 |
| H1-1 | H2AC8 | P04908 | 743 |
| H1-1 | H2AC13 | P02261 | 739 |
| H1-1 | H2AC25 | Q7L7L0 | 731 |
| H1-1 | HOMER1 | Q86YM7 | 704 |
| H1-1 | ZNHIT1 | O43257 | 586 |
| H1-1 | H3C1 | P02295 | 568 |
| H1-1 | H3-4 | Q16695 | 563 |
IntAct
242 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDKN2D | CDK4 | psi-mi:“MI:0914”(association) | 0.970 |
| PRKAB2 | PRKAG1 | psi-mi:“MI:0914”(association) | 0.940 |
| NS | PIK3R2 | psi-mi:“MI:0914”(association) | 0.750 |
| H2AC21 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PSMF1 | PSMA7 | psi-mi:“MI:0914”(association) | 0.660 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| PSMF1 | PSMB1 | psi-mi:“MI:0914”(association) | 0.640 |
| CCDC120 | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| UTP3 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TPPP | H1-1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PMPCA | H1-1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF331 | USP9Y | psi-mi:“MI:0914”(association) | 0.530 |
| MDK | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF71 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| ZCRB1 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| FGF10 | ITIH2 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS34 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| PMPCA | PMPCB | psi-mi:“MI:0914”(association) | 0.530 |
| AIFM1 | SEC16A | psi-mi:“MI:2364”(proximity) | 0.420 |
BioGRID (867): HIST1H1A (Biochemical Activity), HIST1H1A (Biochemical Activity), HIST1H1A (Biochemical Activity), HIST1H1A (Biochemical Activity), HIST1H1A (Biochemical Activity), HIST1H1A (Biochemical Activity), HIST1H1A (Affinity Capture-Western), HIST1H1A (Biochemical Activity), CTR9 (Affinity Capture-MS), LEO1 (Affinity Capture-MS), PAF1 (Affinity Capture-MS), CDC73 (Affinity Capture-MS), WDR61 (Affinity Capture-MS), CUL4A (Affinity Capture-MS), DDB1 (Affinity Capture-MS)
ESM2 similar proteins: A0LRM5, A0QL13, A1KGI7, A5U092, A5U6Z7, A9NEE4, B0B8W9, C1AL40, G3N131, O33125, P02256, P02257, P02258, P02259, P06513, P0A3H7, P0A3H8, P0CE15, P22845, P26568, P26569, P32103, P37218, P38020, P40269, P40270, P40273, P40274, P61180, P9WHC0, P9WHC1, P9WMK6, P9WMK7, Q02539, Q05831, Q06280, Q06281, Q45881, Q46204, Q46397
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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ELOC | up-regulates | H1-1 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 223 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) | 5 | 23.0× | 5e-05 |
| Metalloprotease DUBs | 7 | 14.4× | 2e-05 |
| Packaging Of Telomere Ends | 9 | 13.5× | 4e-06 |
| Recognition and association of DNA glycosylase with site containing an affected purine | 9 | 12.6× | 4e-06 |
| Cleavage of the damaged purine | 9 | 12.6× | 4e-06 |
| Recognition and association of DNA glycosylase with site containing an affected pyrimidine | 9 | 11.3× | 7e-06 |
| Cleavage of the damaged pyrimidine | 9 | 11.3× | 7e-06 |
| ChAHP complex assembly | 9 | 11.3× | 7e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of DNA recombination | 5 | 27.4× | 3e-04 |
| chromosome condensation | 6 | 24.7× | 6e-05 |
| NLS-bearing protein import into nucleus | 5 | 19.6× | 1e-03 |
| nucleosome assembly | 14 | 9.6× | 3e-07 |
| heterochromatin formation | 7 | 8.7× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 75 |
| Likely benign | 11 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1341201 | GRCh37/hg19 6p22.2(chr6:26008259-26168230)x1 | Pathogenic |
SpliceAI
70 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:26017457:GCTTA:G | donor_loss | 0.7600 |
| 6:26017458:CTT:C | donor_loss | 0.7600 |
| 6:26017459:TTACC:T | donor_loss | 0.7600 |
| 6:26017460:TA:T | donor_loss | 0.7600 |
| 6:26017461:A:AC | donor_gain | 0.7200 |
| 6:26017462:C:CC | donor_gain | 0.7200 |
| 6:26017462:CCAGG:C | donor_gain | 0.6900 |
| 6:26017087:A:AC | donor_gain | 0.6600 |
| 6:26017088:C:CC | donor_gain | 0.6600 |
| 6:26017338:G:A | donor_gain | 0.5900 |
| 6:26017472:AATG:A | donor_gain | 0.5900 |
| 6:26017484:A:AC | donor_gain | 0.5400 |
| 6:26017354:C:CT | donor_gain | 0.5200 |
| 6:26017455:TTGC:T | donor_loss | 0.5200 |
| 6:26017456:TGCT:T | donor_loss | 0.5200 |
| 6:26017265:AG:A | donor_gain | 0.5100 |
| 6:26017353:G:C | donor_gain | 0.5100 |
| 6:26017472:AATGC:A | donor_gain | 0.5100 |
| 6:26017355:C:CT | donor_gain | 0.5000 |
| 6:26017480:G:C | donor_gain | 0.5000 |
| 6:26017566:T:A | donor_gain | 0.5000 |
| 6:26017243:T:A | donor_gain | 0.4900 |
| 6:26017344:G:C | donor_gain | 0.4500 |
| 6:26017332:CCCG:C | donor_gain | 0.4400 |
| 6:26017513:AG:A | donor_gain | 0.4400 |
| 6:26017088:CT:C | donor_gain | 0.4300 |
| 6:26017662:G:A | donor_gain | 0.4000 |
| 6:26017198:T:A | donor_gain | 0.3900 |
| 6:26017463:C:A | donor_loss | 0.3900 |
| 6:26017343:A:AC | donor_gain | 0.3800 |
AlphaMissense
1365 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:26017409:G:C | F108L | 0.999 |
| 6:26017409:G:T | F108L | 0.999 |
| 6:26017410:A:G | F108S | 0.999 |
| 6:26017411:A:G | F108L | 0.999 |
| 6:26017425:C:T | G103E | 0.999 |
| 6:26017416:C:T | G106D | 0.998 |
| 6:26017432:C:G | G101R | 0.998 |
| 6:26017446:A:G | L96S | 0.998 |
| 6:26017485:A:C | I83S | 0.998 |
| 6:26017485:A:G | I83T | 0.998 |
| 6:26017535:T:A | K66N | 0.998 |
| 6:26017535:T:G | K66N | 0.998 |
| 6:26017410:A:C | F108C | 0.997 |
| 6:26017431:C:T | G101D | 0.997 |
| 6:26017432:C:A | G101C | 0.997 |
| 6:26017488:C:G | R82P | 0.997 |
| 6:26017489:G:T | R82S | 0.997 |
| 6:26017414:A:G | S107P | 0.996 |
| 6:26017417:C:G | G106R | 0.996 |
| 6:26017473:A:C | I87S | 0.996 |
| 6:26017485:A:T | I83N | 0.996 |
| 6:26017593:A:T | I47N | 0.996 |
| 6:26017406:C:A | K109N | 0.995 |
| 6:26017406:C:G | K109N | 0.995 |
| 6:26017422:G:T | A104D | 0.995 |
| 6:26017536:T:A | K66I | 0.995 |
| 6:26017585:C:G | A50P | 0.995 |
| 6:26017593:A:C | I47S | 0.995 |
| 6:26017432:C:T | G101S | 0.994 |
| 6:26017464:A:G | L90P | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000185520 (6:26016751 T>C), RS1001157548 (6:26018849 A>T), RS1001186755 (6:26017476 C>T), RS1002187606 (6:26018159 G>A,T), RS1004266136 (6:26017498 T>C), RS1004647356 (6:26017736 G>A,T), RS1004872684 (6:26016895 T>A,C,G), RS1005240998 (6:26018992 C>T), RS1005417115 (6:26016632 A>G,T), RS1005532784 (6:26018120 A>C,G), RS1007093517 (6:26016995 T>C), RS1007167125 (6:26017160 T>C,G), RS1009094456 (6:26018465 T>G), RS1010627708 (6:26017724 T>C,G), RS1011533918 (6:26018397 C>T)
Disease associations
OMIM: gene MIM:142709 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004521_113 | Autism spectrum disorder or schizophrenia | 3.000000e-19 |
| 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 |
| GCST004748_55 | Lung cancer | 1.000000e-09 |
| GCST004749_111 | Lung cancer in ever smokers | 6.000000e-08 |
| GCST008568_14 | IgA levels | 2.000000e-06 |
| GCST008746_9 | Estimated glomerular filtration rate in diabetes | 3.000000e-08 |
| GCST010002_50 | Refractive error | 4.000000e-34 |
| GCST010142_16 | Fish- and plant-related diet | 2.000000e-10 |
| GCST010142_19 | Fish- and plant-related diet | 4.000000e-10 |
| GCST010142_34 | Fish- and plant-related diet | 7.000000e-09 |
| GCST010142_35 | Fish- and plant-related diet | 8.000000e-09 |
| GCST010142_42 | Fish- and plant-related diet | 1.000000e-08 |
| GCST010142_7 | Fish- and plant-related diet | 3.000000e-12 |
| GCST010702_75 | Subcortical volume (MOSTest) | 3.000000e-11 |
| GCST010703_272 | Brain morphology (MOSTest) | 7.000000e-16 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 2 |
| sodium arsenite | increases expression, decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| 2-methyl-4-isothiazolin-3-one | decreases expression | 1 |
| kojic acid | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| versicolorin A | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Dasatinib | decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Acetaminophen | decreases expression | 1 |
| Arbutin | increases expression | 1 |
| Arsenic | decreases methylation | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Copper | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Oxygen | decreases expression | 1 |
| Pesticides | increases methylation | 1 |
| Plant Oils | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | increases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
14 cell lines: 14 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C9JT | WAe001-A-84 | Embryonic stem cell | Male |
| CVCL_C9JV | WAe001-A-86 | Embryonic stem cell | Male |
| CVCL_C9K6 | WAe001-A-98 | Embryonic stem cell | Male |
| CVCL_C9K7 | WAe001-A-99 | Embryonic stem cell | Male |
| CVCL_C9KG | WAe001-A-I | Embryonic stem cell | Male |
| CVCL_C9KH | WAe001-A-J | Embryonic stem cell | Male |
| CVCL_C9KR | WAe001-A-S | Embryonic stem cell | Male |
| CVCL_C9KS | WAe001-A-T | Embryonic stem cell | Male |
| CVCL_C9KT | WAe001-A-U | Embryonic stem cell | Male |
| CVCL_C9KU | WAe001-A-V | 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.