Q8GY84
Gene name |
RH10 (EAST2, At5g60990, MSL3.13, MSL3_110) |
Protein name |
DEAD-box ATP-dependent RNA helicase 10 |
Names |
Protein ENHANCER OF ASYMMETRIC LEAVES TWO |
Species |
Arabidopsis thaliana (Mouse-ear cress) |
KEGG Pathway |
ath:AT5G60990 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
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
1 structures for Q8GY84
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8GY84-F1 | Predicted | AlphaFoldDB |
15 variants for Q8GY84
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| tmp_5_24549034_C_A | 39 | A>S | No | 1000Genomes | |
| tmp_5_24549031_G_T | 40 | L>I | No | 1000Genomes | |
| tmp_5_24548783_T_A | 77 | D>V | No | 1000Genomes | |
| ENSVATH07459135 | 85 | R>I | No | 1000Genomes | |
| ENSVATH00745776 | 194 | L>R | No | 1000Genomes | |
| tmp_5_24547710_C_T | 244 | A>T | No | 1000Genomes | |
| tmp_5_24547543_T_C | 265 | I>V | No | 1000Genomes | |
| ENSVATH14643489 | 331 | V>M | No | 1000Genomes | |
| tmp_5_24546874_C_T | 400 | V>I | No | 1000Genomes | |
| tmp_5_24546726_C_G | 416 | G>R | No | 1000Genomes | |
| ENSVATH07459090 | 418 | K>R | No | 1000Genomes | |
| tmp_5_24546713_C_T | 420 | R>K | No | 1000Genomes | |
| ENSVATH12887482 | 424 | D>E | No | 1000Genomes | |
| tmp_5_24546669_T_G | 435 | K>Q | No | 1000Genomes | |
| tmp_5_24546666_C_A | 436 | D>Y | No | 1000Genomes |
1 associated diseases with Q8GY84
[MIM: 616559]: Noonan syndrome 9 (NS9)
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. . Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q8GY84
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8GY84 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
23 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P53166 | MRH4 | ATP-dependent RNA helicase MRH4, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P15424 | MSS116 | ATP-dependent RNA helicase MSS116, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q29S22 | DDX47 | Probable ATP-dependent RNA helicase DDX47 | Bos taurus (Bovine) | PR |
| Q9NUL7 | DDX28 | Probable ATP-dependent RNA helicase DDX28 | Homo sapiens (Human) | PR |
| Q9H0S4 | DDX47 | Probable ATP-dependent RNA helicase DDX47 | Homo sapiens (Human) | PR |
| Q9CWT6 | Ddx28 | Probable ATP-dependent RNA helicase DDX28 | Mus musculus (Mouse) | PR |
| Q9CWX9 | Ddx47 | Probable ATP-dependent RNA helicase DDX47 | Mus musculus (Mouse) | PR |
| Q7Y183 | RH10 | DEAD-box ATP-dependent RNA helicase 10 | Oryza sativa subsp japonica (Rice) | PR |
| P34580 | T26G10.1 | Putative ATP-dependent RNA helicase T26G10.1 | Caenorhabditis elegans | PR |
| P34668 | ZK686.2 | Putative ATP-dependent RNA helicase ZK686.2 | Caenorhabditis elegans | PR |
| Q9SA27 | RH36 | DEAD-box ATP-dependent RNA helicase 36 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FVV4 | RH55 | DEAD-box ATP-dependent RNA helicase 55 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9CAI7 | TIF4A-3 | Eukaryotic initiation factor 4A-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O80792 | RH33 | Putative DEAD-box ATP-dependent RNA helicase 33 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22907 | RH24 | DEAD-box ATP-dependent RNA helicase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LIH9 | RH51 | DEAD-box ATP-dependent RNA helicase 51 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56X76 | RH39 | DEAD-box ATP-dependent RNA helicase 39 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FFQ1 | RH31 | DEAD-box ATP-dependent RNA helicase 31 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SB89 | RH27 | DEAD-box ATP-dependent RNA helicase 27 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q84TG1 | RH57 | DEAD-box ATP-dependent RNA helicase 57 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P41377 | TIF4A-2 | Eukaryotic initiation factor 4A-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P41376 | EIF4A1 | Eukaryotic initiation factor 4A-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8H0U8 | RH42 | DEAD-box ATP-dependent RNA helicase 42 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEENEVVKT | FAELGVREEL | VKACERLGWK | NPSKIQAEAL | PFALEGKDVI | GLAQTGSGKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GAFAIPILQA | LLEYVYDSEP | KKGRRPDPAF | FACVLSPTRE | LAIQIAEQFE | ALGADISLRC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AVLVGGIDRM | QQTIALGKRP | HVIVATPGRL | WDHMSDTKGF | SLKSLKYLVL | DEADRLLNED |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FEKSLNQILE | EIPLERKTFL | FSATMTKKVR | KLQRACLRNP | VKIEAASKYS | TVDTLKQQYR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FVAAKYKDCY | LVYILSEMPE | STSMIFTRTC | DGTRFLALVL | RSLGFRAIPI | SGQMTQSKRL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GALNKFKAGE | CNILVCTDVA | SRGLDIPSVD | VVINYDIPTN | SKDYIHRVGR | TARAGRSGVG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ISLVNQYELE | WYIQIEKLIG | KKLPEYPAEE | DEVLSLLERV | AEAKKLSAMN | MKESGGRKRR |
| 430 | 440 | 450 | |||
| GEDDEESERF | LGGNKDRGNK | ERGGNKDKKS | SKKFKR |