P84243
PR
Gene name |
H3-3B |
Protein name |
Histone H3.3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3021 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
86 structures for P84243
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2L43 | NMR | - | A | 2-13 | PDB |
| 3ASK | X-ray | 290 A | P/Q/R | 2-14 | PDB |
| 3ASL | X-ray | 141 A | B | 2-12 | PDB |
| 3AV2 | X-ray | 280 A | A/E | 1-136 | PDB |
| 3JVK | X-ray | 180 A | C | 13-20 | PDB |
| 3MUK | X-ray | 175 A | D | 22-29 | PDB |
| 3MUL | X-ray | 165 A | D | 13-20 | PDB |
| 3QL9 | X-ray | 093 A | C | 2-16 | PDB |
| 3QLA | X-ray | 160 A | C/F | 2-16 | PDB |
| 3QLC | X-ray | 250 A | C/D | 2-16 | PDB |
| 3WTP | X-ray | 267 A | E | 1-136 | PDB |
| 4GNE | X-ray | 147 A | B | 2-8 | PDB |
| 4GNF | X-ray | 155 A | C | 2-16 | PDB |
| 4GNG | X-ray | 173 A | B/F | 2-16 | PDB |
| 4GU0 | X-ray | 310 A | E/F | 2-27 | PDB |
| 4GUR | X-ray | 251 A | C | 2-22 | PDB |
| 4GUS | X-ray | 223 A | C | 2-22 | PDB |
| 4GY5 | X-ray | 296 A | E/F | 2-18 | PDB |
| 4H9N | X-ray | 195 A | A | 2-136 | PDB |
| 4H9O | X-ray | 205 A | A | 2-136 | PDB |
| 4H9P | X-ray | 220 A | A | 2-136 | PDB |
| 4H9Q | X-ray | 195 A | A | 2-136 | PDB |
| 4H9R | X-ray | 220 A | A | 2-136 | PDB |
| 4H9S | X-ray | 260 A | A/B | 2-136 | PDB |
| 4HGA | X-ray | 280 A | B | 1-136 | PDB |
| 4L58 | X-ray | 148 A | B | 2-13 | PDB |
| 4N4I | X-ray | 200 A | B | 20-43 | PDB |
| 4O62 | X-ray | 178 A | D | 2-12 | PDB |
| 4QQ4 | X-ray | 175 A | C/D | 2-16 | PDB |
| 4TMP | X-ray | 230 A | B/D | 2-12 | PDB |
| 4U7T | X-ray | 290 A | F/G | 2-13 | PDB |
| 4W5A | X-ray | 260 A | C/D/F | 2-16 | PDB |
| 5B32 | X-ray | 235 A | A/E | 1-136 | PDB |
| 5B33 | X-ray | 292 A | A/E | 1-136 | PDB |
| 5BNV | X-ray | 279 A | A/D | 58-136 | PDB |
| 5BNX | X-ray | 231 A | A | 58-136 | PDB |
| 5DWQ | X-ray | 236 A | F/G | 14-31 | PDB |
| 5DX0 | X-ray | 205 A | F/G/H/I | 14-31 | PDB |
| 5JA4 | X-ray | 242 A | A | 58-136 | PDB |
| 5JJY | X-ray | 205 A | B | 30-43 | PDB |
| 5JLB | X-ray | 150 A | B | 30-43 | PDB |
| 5KDM | X-ray | 350 A | A | 2-136 | PDB |
| 5X7X | X-ray | 218 A | A/E | 1-136 | PDB |
| 6A5L | EM | 560 A | a/e | 1-136 | PDB |
| 6A5O | EM | 990 A | a/e | 1-136 | PDB |
| 6A5P | EM | 700 A | a/e | 1-136 | PDB |
| 6A5R | EM | 870 A | a/e | 1-136 | PDB |
| 6A5T | EM | 670 A | a/e | 1-136 | PDB |
| 6A5U | EM | 760 A | a/e | 1-136 | PDB |
| 6HGT | X-ray | 233 A | E/F/G/H | 4-18 | PDB |
| 6INQ | EM | 690 A | a/e | 1-136 | PDB |
| 6IR9 | EM | 380 A | a/e | 1-136 | PDB |
| 6J4W | EM | 790 A | a/e | 1-136 | PDB |
| 6J4X | EM | 430 A | a/e | 1-136 | PDB |
| 6J4Y | EM | 430 A | a/e | 1-136 | PDB |
| 6J4Z | EM | 410 A | a/e | 1-136 | PDB |
| 6J50 | EM | 470 A | a/e | 1-136 | PDB |
| 6J51 | EM | 420 A | a/e | 1-136 | PDB |
| 6J9J | X-ray | 178 A | B | 30-43 | PDB |
| 6PZV | X-ray | 301 A | D/H | 2-27 | PDB |
| 6QXZ | NMR | - | B | 2-10 | PDB |
| 6R0C | EM | 420 A | A/E | 1-136 | PDB |
| 6RNY | EM | 390 A | A/E | 1-136 | PDB |
| 6U04 | X-ray | 220 A | A | 2-13 | PDB |
| 7A08 | EM | 311 A | d/h | 2-136 | PDB |
| 7CIZ | X-ray | 180 A | A/E/I | 58-136 | PDB |
| 7CJ0 | X-ray | 250 A | B/E | 58-136 | PDB |
| 7CWH | NMR | - | A | 32-42 | PDB |
| 7OKP | X-ray | 220 A | E/F/G/H | 14-23 | PDB |
| 7V1L | X-ray | 285 A | V | 117-136 | PDB |
| 7V1M | X-ray | 283 A | A/B | 2-136 | PDB |
| 7VCQ | X-ray | 300 A | A/C/G | 58-136 | PDB |
| 7W5M | X-ray | 215 A | B | 117-136 | PDB |
| 7WBV | EM | 410 A | a/e | 1-136 | PDB |
| 7WBW | EM | 710 A | a/e | 1-136 | PDB |
| 7WBX | EM | 400 A | a/e | 1-136 | PDB |
| 7XSE | EM | 360 A | a/e | 1-136 | PDB |
| 7XSX | EM | 380 A | a/e | 1-136 | PDB |
| 7XSZ | EM | 340 A | a/e | 1-136 | PDB |
| 7XT7 | EM | 420 A | a/e | 1-136 | PDB |
| 7XTD | EM | 390 A | a/e | 1-136 | PDB |
| 7XTI | EM | 390 A | a/e | 1-136 | PDB |
| 8JH2 | EM | 570 A | a/e | 1-136 | PDB |
| 8JH3 | EM | 370 A | a/e | 1-136 | PDB |
| 8JH4 | EM | 320 A | a/e | 1-136 | PDB |
| AF-P84243-F1 | Predicted | AlphaFoldDB |
103 variants for P84243
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001541915 rs1555585522 RCV002464271 RCV003147523 VAR_087155 CA401118846 RCV000623361 |
8 | A>V | Bryant-Li-Bhoj neurodevelopmental syndrome 2 Global developmental delay Inborn genetic diseases BRYLIB2; unknown pathological significance; no effect on protein abundance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV001541916 RCV001266532 VAR_087156 RCV001823767 rs2061653458 |
9 | R>C | Bryant-Li-Bhoj neurodevelopmental syndrome 2 Global developmental delay Inborn genetic diseases BRYLIB2 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_087157 | 9 | R>G | BRYLIB1 [UniProt] | Yes | UniProt |
| VAR_087158 | 9 | R>S | BRYLIB1 [UniProt] | Yes | UniProt |
| VAR_087159 | 10 | K>E | BRYLIB2; unknown pathological significance; no effect on protein abundance [UniProt] | Yes | UniProt |
| VAR_087160 | 11 | S>P | BRYLIB2; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_087161 | 14 | G>R | BRYLIB2; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_087162 | 16 | A>G | BRYLIB1; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_087163 | 18 | R>G | BRYLIB1 [UniProt] | Yes | UniProt |
| VAR_087164 | 23 | T>I | BRYLIB1; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_087165 | 23 | T>K | BRYLIB2; unknown pathological significance; no effect on protein abundance [UniProt] | Yes | UniProt |
|
RCV000425383 rs1057519903 CA16602870 VAR_079021 COSM327928 RCV000435644 |
28 | K>M | NS Variant assessed as Somatic; impact. central_nervous_system Astrocytoma GLM; glioblastoma multiforme samples and diffuse intrinsic pontine glioma; somatic mutation; more prevalent in pediatric than adult malignancies; results in reduced allosteric activation of PRC2 causing a global decrease of H3K27me3 levels; has no effect on H3K4me3 or H3K36me3 levels [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
| VAR_087166 | 30 | A>P | BRYLIB2; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA345015940 RCV000493869 VAR_087167 rs1131691704 |
30 | A>T | BRYLIB1; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
| VAR_087168 | 32 | S>F | BRYLIB1; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000436272 RCV000444419 CA16602869 RCV000426050 rs1057519902 RCV000418626 |
34 | G>R | Adrenal cortex carcinoma Neoplasm of brain Glioblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM327929 RCV000505649 VAR_079022 rs1553260624 CA345016035 |
35 | G>R | Glioblastoma Variant assessed as Somatic; impact. central_nervous_system GLM; glioblastoma multiforme samples; somatic mutation; also found in osteosarcoma samples; results in global decrease of H3K36me2 and H3K36me3 levels; has no effect on H3K27me3 levels [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
| VAR_079023 | 35 | G>V | GLM and BRYLIB2; glioblastoma multiforme samples; somatic mutation; affects regulation of gene expression and results in up-regulation of MYCN; results in global decrease of H3K36me2 and H3K36me3 levels; has no effect on H3K27me3 levels [UniProt] | Yes | UniProt |
|
RCV001266726 rs1576199734 |
36 | V>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_087169 | 37 | K>E | BRYLIB1 [UniProt] | Yes | UniProt |
|
VAR_087170 RCV000622957 RCV003151798 rs1555585486 CA401118087 |
40 | H>R | Inborn genetic diseases BRYLIB2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
| VAR_087171 | 40 | H>Y | BRYLIB1; unknown pathological significance [UniProt] | Yes | UniProt |
|
VAR_087172 rs1599343819 CA401118041 |
41 | R>C | BRYLIB1; unknown pathological significance; increased protein abundance [UniProt] | Yes |
ClinGen Ensembl UniProt |
|
RCV001823766 RCV001266185 rs1657901999 VAR_087173 |
46 | T>I | Bryant-Li-Bhoj neurodevelopmental syndrome 1 Inborn genetic diseases BRYLIB1 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_087174 | 49 | L>R | BRYLIB2; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_087175 | 52 | I>N | BRYLIB2; unknown pathological significance; decreased protein abundance [UniProt] | Yes | UniProt |
| VAR_087176 | 56 | Q>K | BRYLIB1; unknown pathological significance; no effect on protein abundance [UniProt] | Yes | UniProt |
|
VAR_087177 RCV001199199 rs1657902836 |
62 | L>R | BRYLIB1; unknown pathological significance [UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_087178 | 78 | D>N | BRYLIB1; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001265909 rs1657903845 |
82 | D>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_087179 RCV001266164 rs1657903750 |
82 | D>H | Inborn genetic diseases BRYLIB1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_087180 | 84 | R>C | BRYLIB1 [UniProt] | Yes | UniProt |
|
rs1657904113 RCV001262997 |
84 | R>G | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_087181 | 91 | G>R | BRYLIB1 [UniProt] | Yes | UniProt |
|
RCV001266068 VAR_087182 RCV002226429 rs1658118461 |
109 | N>S | Bryant-Li-Bhoj neurodevelopmental syndrome 1 Inborn genetic diseases BRYLIB1 and BRYLIB2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_087183 | 113 | I>L | BRYLIB1; unknown pathological significance [UniProt] | Yes | UniProt |
|
VAR_087184 RCV001266259 rs1658119267 |
113 | I>V | Inborn genetic diseases BRYLIB1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
| VAR_087185 | 118 | V>L | BRYLIB1; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_087186 | 121 | M>I | BRYLIB1; decreased protein abundance [UniProt] | Yes | UniProt |
|
rs779013881 VAR_087187 CA1421217 |
121 | M>K | BRYLIB1 [UniProt] | Yes |
ClinGen ExAC gnomAD UniProt |
| VAR_087188 | 121 | M>V | BRYLIB2 [UniProt] | Yes | UniProt |
|
rs1576203003 RCV001823747 RCV001266045 CA345020966 RCV001541913 VAR_087189 RCV000851307 |
122 | P>L | Bryant-Li-Bhoj neurodevelopmental syndrome 1 Global developmental delay Inborn genetic diseases BRYLIB1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs1576203003 VAR_087190 RCV001267334 |
122 | P>R | Inborn genetic diseases BRYLIB1 and BRYLIB2 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
CA345021021 RCV000708585 rs1276519904 RCV001823740 RCV000624606 VAR_087191 RCV000994267 |
126 | Q>R | Bryant-Li-Bhoj neurodevelopmental syndrome 1 Inborn genetic diseases BRYLIB1 and BRYLIB2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar TOPMed dbSNP UniProt |
| VAR_087192 | 129 | R>C | BRYLIB1; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_087193 | 129 | R>H | BRYLIB1; unknown pathological significance; decreased protein abundance; increased interaction with DAXX; not changed subcellular location [UniProt] | Yes | UniProt |
| TCGA novel | 3 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599343888 CA401118793 |
12 | T>P | No |
ClinGen Ensembl |
|
|
CA294095739 rs11547391 |
13 | G>S | No |
ClinGen Ensembl |
|
|
rs1159626746 CA401118671 |
15 | K>I | No |
ClinGen gnomAD |
|
|
rs11547395 CA294095738 |
17 | P>R | No |
ClinGen Ensembl |
|
| rs779064600 | 18 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11547397 CA294095736 |
22 | A>G | No |
ClinGen Ensembl |
|
|
rs1284930716 CA401118424 |
25 | A>V | No |
ClinGen gnomAD |
|
|
rs1321239115 CA345015907 |
28 | K>E | No |
ClinGen gnomAD |
|
|
rs888157382 COSM1578107 CA38549756 |
28 | K>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 29 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345015962 rs1439403341 |
31 | P>L | No |
ClinGen gnomAD |
|
|
rs867543814 CA294095735 COSM1710800 |
31 | P>L | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 31 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_079024 | 35 | G>W | probable disease-associated variant found in giant cell tumors of bone; somatic mutation [UniProt] | No | UniProt |
|
rs777858573 CA8771332 |
36 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA345016066 rs1576199734 |
36 | V>G | No |
ClinGen Ensembl |
|
| VAR_079025 | 37 | K>M | probable disease-associated variant found in chondroblastoma and clear cell chondrosarcoma; somatic mutation; also found in a subset of human papillomavirus-negative head and neck squamous cell carcinomas; results in global decrease of H3K36me2 and H3K36me3 levels and increased H3K27me3 levels [UniProt] | No | UniProt |
|
CA294095733 rs11547396 |
41 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1657901897 RCV001172231 |
44 | P>L | No |
ClinVar dbSNP |
|
|
rs1167757880 CA401117863 |
44 | P>S | No |
ClinGen gnomAD |
|
|
CA1421172 rs781452810 |
64 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1421173 rs532531600 |
66 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 67 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294095717 rs11547388 |
69 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 69 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401117125 rs1599343618 |
72 | V>G | No |
ClinGen Ensembl |
|
|
rs762917889 CA1421176 |
75 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401117016 rs1363151966 |
77 | Q>* | No |
ClinGen TOPMed |
|
|
CA294095716 rs11547392 |
78 | D>V | No |
ClinGen Ensembl |
|
|
CA345017372 rs1553260740 RCV000523604 |
80 | K>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA401116721 rs1253319640 |
84 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 84 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345017622 rs1464306889 |
86 | Q>E | No |
ClinGen gnomAD |
|
|
CA8771269 rs747143516 |
86 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs775708260 CA8771268 |
87 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361167256 CA345017707 COSM3705564 |
90 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA294095714 rs972005035 |
91 | G>A | No |
ClinGen TOPMed |
|
|
rs767113562 CA1421180 |
94 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 94 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 95 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776430564 CA8771220 |
97 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372856610 CA345020752 |
97 | S>T | No |
ClinGen TOPMed |
|
|
CA401115650 rs1168117350 |
100 | Y>D | No |
ClinGen gnomAD |
|
|
CA401115594 rs1599343388 |
102 | V>G | No |
ClinGen Ensembl |
|
|
CA8771212 COSM88571 rs150846998 |
105 | F>L | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 112 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1421215 TCGA novel rs749423281 COSM3930660 |
115 | A>G | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 116 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552409004 CA8771206 |
116 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1171447710 CA345020887 |
117 | R>C | No |
ClinGen gnomAD |
|
|
CA401115224 rs1599343348 |
117 | R>S | No |
ClinGen Ensembl |
|
|
rs1392777164 CA401114959 |
126 | Q>H | No |
ClinGen gnomAD |
|
|
CA8771201 rs760522822 |
128 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs866529452 CA294095706 |
128 | A>V | No |
ClinGen gnomAD |
|
|
rs1360048154 CA345021100 |
133 | G>R | No |
ClinGen gnomAD |
4 associated diseases with P84243
[MIM: 137800]: Glioma (GLM)
Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:22286061, ECO:0000269|PubMed:22286216, ECO:0000269|PubMed:23539269}. Note=The gene represented in this entry is involved in disease pathogenesis. H3F3A mutations affecting residues involved in post-translational modifications of histone H3.3 are recurrent in malignant, aggressive gliomas including glioblastoma multiforme (GBM) and diffuse intrinsic pontine glioma (DIPG) (PubMed:22286061, PubMed:22286216). The mechanism through which mutations lead to tumorigenesis involves altered histones methylation, impaired regulation of Polycomb repressive complex 2 (PRC2) activity, and aberrant epigenetic regulation of gene expression (PubMed:23539269, PubMed:23539183, PubMed:23603901). {ECO:0000269|PubMed:22286061, ECO:0000269|PubMed:22286216, ECO:0000269|PubMed:23539183, ECO:0000269|PubMed:23539269, ECO:0000269|PubMed:23603901}.
[MIM: 619720]: Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1)
An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects. {ECO:0000269|PubMed:33268356, ECO:0000269|PubMed:34876591}. Note=The disease is caused by variants affecting the gene represented in this entry. BRYLIB1 is caused by variants in H3-3A. {ECO:0000269|PubMed:33268356, ECO:0000269|PubMed:34876591}.
[MIM: 619721]: Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2)
An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects. {ECO:0000269|PubMed:33268356, ECO:0000269|PubMed:34876591}. Note=The disease is caused by variants affecting the gene represented in this entry. BRYLIB2 is caused by variants in H3-3B. {ECO:0000269|PubMed:33268356, ECO:0000269|PubMed:34876591}.
Without disease ID
- Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:22286061, ECO:0000269|PubMed:22286216, ECO:0000269|PubMed:23539269}. Note=The gene represented in this entry is involved in disease pathogenesis. H3F3A mutations affecting residues involved in post-translational modifications of histone H3.3 are recurrent in malignant, aggressive gliomas including glioblastoma multiforme (GBM) and diffuse intrinsic pontine glioma (DIPG) (PubMed:22286061, PubMed:22286216). The mechanism through which mutations lead to tumorigenesis involves altered histones methylation, impaired regulation of Polycomb repressive complex 2 (PRC2) activity, and aberrant epigenetic regulation of gene expression (PubMed:23539269, PubMed:23539183, PubMed:23603901). {ECO:0000269|PubMed:22286061, ECO:0000269|PubMed:22286216, ECO:0000269|PubMed:23539183, ECO:0000269|PubMed:23539269, ECO:0000269|PubMed:23603901}.
- An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects. {ECO:0000269|PubMed:33268356, ECO:0000269|PubMed:34876591}. Note=The disease is caused by variants affecting the gene represented in this entry. BRYLIB1 is caused by variants in H3-3A. {ECO:0000269|PubMed:33268356, ECO:0000269|PubMed:34876591}.
- An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects. {ECO:0000269|PubMed:33268356, ECO:0000269|PubMed:34876591}. Note=The disease is caused by variants affecting the gene represented in this entry. BRYLIB2 is caused by variants in H3-3B. {ECO:0000269|PubMed:33268356, ECO:0000269|PubMed:34876591}.
1 regional properties for P84243
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Histone H2A/H2B/H3 | 1 - 132 | IPR007125 |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| Barr body | A structure found in a female mammalian cell containing an unpaired X chromosome that has become densely heterochromatic, silenced and localized at the nuclear periphery. |
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| inner kinetochore | The region of a kinetochore closest to centromeric DNA; in mammals the CREST antigens (CENP proteins) are found in this layer; this layer may help define underlying centromeric chromatin structure and position of the kinetochore on the chromosome. |
| nuclear chromosome | A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleosome | A complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| nucleosomal DNA binding | Binding to the DNA portion of a nucleosome. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| RNA polymerase II core promoter sequence-specific DNA binding | Binding to a DNA sequence that is part of the core promoter of a RNA polymerase II-transcribed gene. |
| structural constituent of chromatin | The action of a molecule that contributes to the structural integrity of chromatin. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| embryo implantation | Attachment of the blastocyst to the uterine lining. |
| male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a muscle cell. |
| negative regulation of chromosome condensation | Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation. |
| nucleosome assembly | The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA. |
| nucleus organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus. |
| oocyte maturation | A developmental process, independent of morphogenetic (shape) change, that is required for an oocyte to attain its fully functional state. Oocyte maturation commences after reinitiation of meiosis commonly starting with germinal vesicle breakdown, and continues up to the second meiotic arrest prior to fertilization. |
| osteoblast differentiation | The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. |
| pericentric heterochromatin assembly | The compaction of chromatin located adjacent to the CENP-A rich centromere 'central core' and characterized by methylation of histone H3K9, into heterochromatin, resulting in the repression of transcription at pericentric DNA. |
| positive regulation of cell growth | Any process that activates or increases the frequency, rate, extent or direction of cell growth. |
| regulation of centromere complex assembly | Any process that modulates the rate, frequency, or extent of centromere complex assembly, the aggregation, arrangement and bonding together of proteins and centromeric DNA molecules to form a centromeric protein-DNA complex. |
| single fertilization | The union of male and female gametes to form a zygote. |
| spermatid development | The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. |
| subtelomeric heterochromatin assembly | The compaction of chromatin into heterochromatin at the subtelomeric region. |
| telomere organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of telomeres, terminal regions of a linear chromosome that include the telomeric DNA repeats and associated proteins. |
38 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P68428 | Histone H3.2 | Triticum aestivum (Wheat) | PR | |
| P68432 | Histone H3.1 | Bos taurus (Bovine) | PR | |
| P84227 | Histone H3.2 | Bos taurus (Bovine) | PR | |
| Q5E9F8 | H3-3B | Histone H3.3 | Bos taurus (Bovine) | PR |
| P84229 | H3-VIII | Histone H3.2 | Gallus gallus (Chicken) | PR |
| P84247 | H3-X | Histone H3.3 | Gallus gallus (Chicken) | PR |
| Q71V89 | HIS3 | Histone H3.3 | Gossypium hirsutum (Upland cotton) (Gossypium mexicanum) | PR |
| P02299 | His3 | Histone H3 | Drosophila melanogaster (Fruit fly) | PR |
| Q71H73 | Histone H3.3 | Vitis vinifera (Grape) | PR | |
| P84243 | H3-3B | Histone H3.3 | Homo sapiens (Human) | PR |
| P68431 | H3C12 | Histone H3.1 | Homo sapiens (Human) | PR |
| Q16695 | H3-4 | Histone H3.1t | Homo sapiens (Human) | PR |
| Q71DI3 | H3C13 | Histone H3.2 | Homo sapiens (Human) | PR |
| P69246 | H3C4 | Histone H3.2 | Zea mays (Maize) | PR |
| P84228 | H3c15 | Histone H3.2 | Mus musculus (Mouse) | PR |
| P68433 | H3c11 | Histone H3.1 | Mus musculus (Mouse) | PR |
| P84244 | H3-3b | Histone H3.3 | Mus musculus (Mouse) | PR |
| Q71LE2 | H3-3A | Histone H3.3 | Sus scrofa (Pig) | PR |
| O35799 | Hfe | Hereditary hemochromatosis protein homolog | Rattus norvegicus (Rat) | PR |
| Q6LED0 | Histone H3.1 | Rattus norvegicus (Rat) | PR | |
| P84245 | H3-3b | Histone H3.3 | Rattus norvegicus (Rat) | PR |
| Q0JCT1 | H3 | Histone H3.3 | Oryza sativa subsp japonica (Rice) | PR |
| Q2RAD9 | H3R-21 | Histone H3.2 | Oryza sativa subsp japonica (Rice) | PR |
| P08898 | his-2 | Histone H3 | Caenorhabditis elegans | PR |
| Q10453 | his-71 | Histone H3.3 type 1 | Caenorhabditis elegans | PR |
| Q27490 | his-70 | Histone H3.3-like type 1 | Caenorhabditis elegans | PR |
| Q27532 | his-74 | Histone H3.3-like type 2 | Caenorhabditis elegans | PR |
| Q9U281 | his-72 | Histone H3.3 type 2 | Caenorhabditis elegans | PR |
| Q9FKQ3 | At5g65350 | Histone H3-like 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P59226 | HTR2 | Histone H3.1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FX60 | At1g13370 | Histone H3-like 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FXI7 | MGH3 | Histone H3-like 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LR02 | At1g75600 | Histone H3-like 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P59169 | HTR4 | Histone H3.3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q28D37 | TGas081o10.1 | Histone H3.2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6P823 | TGas113e22.1 | Histone H3.3 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q4QRF4 | zgc:113984; | Histone H3.2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q6PI20 | h3f3a | Histone H3.3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARTKQTARK | STGGKAPRKQ | LATKAARKSA | PSTGGVKKPH | RYRPGTVALR | EIRRYQKSTE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLIRKLPFQR | LVREIAQDFK | TDLRFQSAAI | GALQEASEAY | LVGLFEDTNL | CAIHAKRVTI |
| 130 | |||||
| MPKDIQLARR | IRGERA |