P26196
PR
Gene name |
DDX6 (HLR2, RCK) |
Protein name |
Probable ATP-dependent RNA helicase DDX6 |
Names |
ATP-dependent RNA helicase p54, DEAD box protein 6, Oncogene RCK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1656 |
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
10 structures for P26196
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1VEC | X-ray | 201 A | A/B | 94-299 | PDB |
| 2WAX | X-ray | 230 A | A/C | 296-483 | PDB |
| 2WAY | X-ray | 230 A | A/C | 296-483 | PDB |
| 4CRW | X-ray | 175 A | B | 307-483 | PDB |
| 4CT4 | X-ray | 230 A | B/D | 95-469 | PDB |
| 4CT5 | X-ray | 300 A | A/B | 95-469 | PDB |
| 5ANR | X-ray | 210 A | B | 95-469 | PDB |
| 6F9S | X-ray | 303 A | A | 301-469 | PDB |
| 6S8S | X-ray | 221 A | A/C | 295-483 | PDB |
| AF-P26196-F1 | Predicted | AlphaFoldDB |
181 variants for P26196
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA382887583 rs1591885401 VAR_083368 RCV000855699 |
372 | H>R | Intellectual developmental disorder with impaired language and dysmorphic facies IDDILF [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
VAR_083369 CA382887575 RCV000855695 rs1591885383 |
373 | R>Q | Intellectual developmental disorder with impaired language and dysmorphic facies IDDILF; decreased P-body assembly; decreased interaction with LSM14A; decreased interaction with LSM14B; decreased interaction with EIF4ENIF1/4E-T; decreased interaction with PATL1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA382887463 rs1591885305 RCV000855696 VAR_083370 |
390 | C>R | Intellectual developmental disorder with impaired language and dysmorphic facies IDDILF; decreased P-body assembly; decreased interaction with LSM14A; decreased interaction with LSM14B; decreased interaction with EIF4ENIF1/4E-T [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA382887451 rs1591885290 VAR_083371 RCV000855697 RCV002281140 |
391 | T>I | Intellectual developmental disorder with impaired language and dysmorphic facies IDDILF; decreased P-body assembly [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV000855698 CA382887455 rs1591885297 VAR_083372 |
391 | T>P | Intellectual developmental disorder with impaired language and dysmorphic facies IDDILF; decreased P-body assembly [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV001200572 rs1860933779 RCV002280167 |
396 | R>Q | Intellectual developmental disorder with impaired language and dysmorphic facies [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773664244 CA6308637 |
3 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs941409680 CA229557593 |
6 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs748806705 CA6308635 |
9 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372147541 CA6308634 |
9 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748806705 CA382904091 |
9 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367963908 CA6308633 |
10 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA382904031 rs1239075578 |
11 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 12 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382903972 rs1418815486 |
13 | G>V | No |
ClinGen gnomAD |
|
|
rs1331147651 CA382903920 |
16 | S>G | No |
ClinGen TOPMed |
|
|
CA6308632 rs747932358 |
18 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA229557562 rs79577543 |
20 | Q>E | No |
ClinGen 1000Genomes |
|
|
rs1190376529 CA382903714 |
22 | R>K | No |
ClinGen gnomAD |
|
|
CA229557559 rs1049997780 |
23 | G>C | No |
ClinGen gnomAD |
|
|
rs746102146 CA6308629 |
25 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs776636205 CA6308626 |
27 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs992449697 CA382903541 |
27 | P>H | No |
ClinGen TOPMed |
|
|
CA229557545 rs992449697 |
27 | P>L | No |
ClinGen TOPMed |
|
|
CA229557546 rs992449697 |
27 | P>R | No |
ClinGen TOPMed |
|
|
rs776636205 CA6308627 |
27 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1277389227 CA382903519 |
28 | T>A | No |
ClinGen Ensembl |
|
|
rs778324494 CA6308625 |
29 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6308624 rs756634095 |
30 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382903348 rs1335026545 |
35 | G>A | No |
ClinGen gnomAD |
|
|
CA6308623 rs375866508 |
35 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759126856 CA6308621 |
38 | T>A | No |
ClinGen ExAC |
|
|
CA229557529 rs867452229 |
39 | Q>R | No |
ClinGen Ensembl |
|
|
rs1417326766 CA382903126 |
42 | M>L | No |
ClinGen gnomAD |
|
|
rs1415963087 CA382903087 |
43 | N>D | No |
ClinGen gnomAD |
|
|
rs367679076 CA229557527 |
45 | L>R | No |
ClinGen ESP |
|
|
CA6308618 rs762493158 |
48 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs772644494 CA382902883 |
48 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA382902907 rs762493158 |
48 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs772644494 CA6308617 |
48 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6308616 rs769816474 |
49 | N>K | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA382902864 rs1463102078 |
49 | N>S | No |
ClinGen TOPMed |
|
|
rs374639004 CA6308615 |
52 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382902737 rs1241834385 |
53 | N>T | No |
ClinGen TOPMed |
|
|
rs776511875 CA6308614 |
54 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA382902701 rs1267029171 |
56 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6308613 rs768557918 |
58 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA382902581 rs1322993541 |
60 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6308612 rs746850469 |
61 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6308611 rs779167896 |
61 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs34552201 CA6308610 |
62 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749341428 CA6308609 |
63 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1037443185 CA229557483 |
64 | T>A | No |
ClinGen gnomAD |
|
|
CA6308608 rs116239239 |
64 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6308606 rs746905779 |
66 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782016596 CA6308580 |
68 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483345678 CA382900376 |
74 | K>N | No |
ClinGen TOPMed |
|
|
rs1565577686 CA382900369 |
75 | T>S | No |
ClinGen Ensembl |
|
|
CA6308576 rs782349877 |
76 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA382900318 rs1555164642 |
77 | K>N | No |
ClinGen gnomAD |
|
|
CA6308575 rs782228328 |
78 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA382900292 rs868967255 |
79 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 80 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382900245 rs1555164635 |
81 | K>E | No |
ClinGen gnomAD |
|
|
rs1555164632 CA382900188 |
83 | L>V | No |
ClinGen gnomAD |
|
|
rs1555164623 CA382900133 |
85 | I>L | No |
ClinGen gnomAD |
|
| rs781874399 | 88 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782677081 CA6308571 |
88 | S>L | Variant assessed as Somatic; 4.782e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA382899749 rs1555164286 |
93 | T>A | No |
ClinGen gnomAD |
|
|
CA6308548 rs782531778 |
94 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs782290062 CA6308547 |
94 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1565576562 CA382899625 |
98 | F>V | No |
ClinGen Ensembl |
|
|
rs375385727 CA6308546 |
100 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA382899503 rs1555164282 |
105 | R>W | No |
ClinGen gnomAD |
|
|
CA6308543 rs369026632 |
108 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1382901504 CA382899399 |
111 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1555164276 CA382899329 |
114 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781805261 CA6308541 |
122 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782539214 CA229546812 |
133 | G>D | No |
ClinGen Ensembl |
|
|
CA382895502 rs1356364533 |
151 | L>V | No |
ClinGen TOPMed |
|
|
rs782757060 CA6308530 |
157 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782814265 CA6308527 |
159 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6308528 rs782020260 |
159 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs375345969 CA6308524 |
161 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6308523 rs370583342 |
164 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1207795266 CA382895157 |
164 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1565569342 CA382895129 |
165 | I>T | No |
ClinGen Ensembl |
|
|
CA229546754 rs377419603 |
165 | I>V | No |
ClinGen ESP |
|
|
CA382893862 rs1591899881 |
168 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 170 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6308501 rs374784901 |
170 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382893825 rs1265187310 |
171 | V>G | No |
ClinGen TOPMed |
|
|
CA382893670 rs1434795160 |
180 | V>I | No |
ClinGen TOPMed |
|
|
CA6308498 rs782226871 |
181 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 184 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555161083 CA382893504 |
186 | Q>R | No |
ClinGen gnomAD |
|
|
rs782556370 CA6308497 |
187 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA229544995 rs895329000 |
187 | V>L | No |
ClinGen TOPMed |
|
|
rs371176589 CA6308496 |
188 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369123795 CA6308495 |
189 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382893420 rs1555161075 |
190 | H>D | No |
ClinGen gnomAD |
|
|
rs750916819 CA229544957 |
191 | M>V | No |
ClinGen gnomAD |
|
|
CA382893304 rs1360707435 |
193 | G>E | No |
ClinGen TOPMed |
|
|
CA382893268 rs1403807646 |
194 | A>D | No |
ClinGen TOPMed |
|
|
rs782639046 CA6308494 |
200 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1555161063 CA382892959 |
204 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300703686 CA382892912 |
206 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 210 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 229 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382891994 rs1591896591 |
229 | L>V | No |
ClinGen Ensembl |
|
|
rs782553341 CA6308469 |
230 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 233 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555160636 CA382891898 |
234 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226037245 CA382891888 |
235 | A>T | No |
ClinGen TOPMed |
|
|
CA6308468 rs782296728 |
237 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs200176552 CA229543910 |
240 | V>A | No |
ClinGen 1000Genomes |
|
|
rs569517365 CA229543891 |
241 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6308466 rs781815721 |
242 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781815721 CA6308465 |
242 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 248 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382890016 rs1203403770 |
257 | V>M | No |
ClinGen TOPMed |
|
|
rs782581835 CA6308446 |
260 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6308444 rs781902489 |
266 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 270 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382889679 rs1555159808 |
271 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 281 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555159796 CA382889439 |
282 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782691792 CA6308441 |
286 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781957985 CA6308407 |
289 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555159577 CA382888722 |
305 | T>S | No |
ClinGen Ensembl |
|
|
CA382888714 rs1555159575 |
306 | L>M | No |
ClinGen gnomAD |
|
|
CA382888524 rs1555159566 |
317 | T>I | No |
ClinGen gnomAD |
|
|
rs782597476 CA6308404 |
319 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs74958459 CA229540635 |
320 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 322 | V>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382888313 rs1555159560 |
329 | F>S | No |
ClinGen gnomAD |
|
|
rs782634234 CA6308401 |
331 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6308383 rs782034629 |
337 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA382887795 rs1591886621 |
344 | S>A | No |
ClinGen Ensembl |
|
|
rs782353147 CA6308379 |
345 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 345 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 364 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761691321 CA229569002 |
364 | I>S | No |
ClinGen Ensembl |
|
|
rs1555159145 CA382887637 |
367 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 375 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382887500 rs1555158921 |
384 | L>S | No |
ClinGen gnomAD |
|
|
CA6308360 rs782274778 |
386 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 386 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782371749 CA6308358 |
387 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1591885281 CA382887450 |
392 | D>N | No |
ClinGen Ensembl |
|
|
rs1555158525 CA382887409 |
396 | R>* | No |
ClinGen gnomAD |
|
|
CA382887398 rs1555158524 |
398 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 399 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6308326 rs782223278 |
403 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs201068003 CA229568125 |
415 | A>S | No |
ClinGen gnomAD |
|
|
rs1555158510 CA382887228 |
422 | I>S | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 431 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382887074 rs1482151571 |
443 | R>G | No |
ClinGen TOPMed |
|
|
CA229567859 rs75327037 |
443 | R>H | No |
ClinGen Ensembl |
|
|
CA6308286 rs782707531 |
448 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs374184056 CA6308285 |
449 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 456 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382886966 rs1591882440 |
458 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 458 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555158324 CA382886934 |
463 | N>S | No |
ClinGen gnomAD |
|
|
rs1555158316 CA382886862 |
473 | Y>S | No |
ClinGen gnomAD |
|
|
CA382886848 rs1555158315 |
475 | S>G | No |
ClinGen gnomAD |
|
|
rs561752798 CA6308280 |
475 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6308278 rs191902541 |
476 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6308279 rs782182181 |
476 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA382886820 rs1431111986 |
479 | E>G | No |
ClinGen TOPMed |
|
|
rs782662981 CA6308275 |
481 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA382886789 rs1170463312 |
483 | P>L | No |
ClinGen TOPMed |
|
|
rs782468835 CA6308274 |
483 | P>T | No |
ClinGen ExAC gnomAD |
2 associated diseases with P26196
[MIM: 618653]: Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF)
An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies. {ECO:0000269|PubMed:31422817}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies. {ECO:0000269|PubMed:31422817}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P26196
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | ATP-dependent RNA helicase DEAD-box, conserved site | 244 - 252 | IPR000629 |
| domain | Helicase, C-terminal | 308 - 468 | IPR001650 |
| domain | DEAD/DEAH box helicase domain | 121 - 286 | IPR011545 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 115 - 312 | IPR014001 |
| domain | RNA helicase, DEAD-box type, Q motif | 96 - 124 | IPR014014 |
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 | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic ribonucleoprotein granule | A ribonucleoprotein granule located in the cytoplasm. |
| cytoplasmic stress granule | A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| P-body | A focus in the cytoplasm where mRNAs may become inactivated by decapping or some other mechanism. Protein and RNA localized to these foci are involved in mRNA degradation, nonsense-mediated mRNA decay (NMD), translational repression, and RNA-mediated gene silencing. |
| RISC complex | A ribonucleoprotein complex that contains members of the Argonaute family of proteins, small interfering RNAs (siRNAs) or microRNAs (miRNAs), and miRNA or siRNA-complementary mRNAs, in addition to a number of accessory factors. The RISC complex is involved in posttranscriptional repression of gene expression through downregulation of translation or induction of mRNA degradation. |
8 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. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| helicase activity | Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix. |
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| miRNA-mediated gene silencing by inhibition of translation | An RNA interference pathway in which microRNAs (miRNAs) block the translation of target mRNAs into proteins. Once incorporated into a RNA-induced silencing complex (RISC), a miRNA will typically mediate repression of translation if the miRNA imperfectly base-pairs with the 3' untranslated regions of target mRNAs. |
| negative regulation of neuron differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. |
| negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| P-body assembly | The aggregation, arrangement and bonding together of proteins and RNA molecules to form a cytoplasmic mRNA processing body. |
| stem cell population maintenance | The process by which an organism or tissue maintains a population of stem cells of a single type. This can be achieved by a number of mechanisms: stem cell asymmetric division maintains stem cell numbers; stem cell symmetric division increases them; maintenance of a stem cell niche maintains the conditions for commitment to the stem cell fate for some types of stem cell; stem cells may arise de novo from other cell types. |
| stress granule assembly | The aggregation, arrangement and bonding together of proteins and RNA molecules to form a stress granule. |
| viral RNA genome packaging | The packaging of viral RNA (single-stranded or double-stranded) into a nucleocapsid. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P39517 | DHH1 | ATP-dependent RNA helicase DHH1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q5ZKB9 | DDX6 | Probable ATP-dependent RNA helicase DDX6 | Gallus gallus (Chicken) | PR |
| P54823 | Ddx6 | Probable ATP-dependent RNA helicase DDX6 | Mus musculus (Mouse) | PR |
| Q109G2 | Os10g0503700 | DEAD-box ATP-dependent RNA helicase 12 | Oryza sativa subsp japonica (Rice) | PR |
| Q7XMK8 | Os04g0533000 | DEAD-box ATP-dependent RNA helicase 6 | Oryza sativa subsp japonica (Rice) | PR |
| Q6H7S2 | Os02g0641800 | DEAD-box ATP-dependent RNA helicase 8 | Oryza sativa subsp japonica (Rice) | PR |
| Q8RXK6 | RH8 | DEAD-box ATP-dependent RNA helicase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94BV4 | RH6 | DEAD-box ATP-dependent RNA helicase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M2E0 | RH12 | DEAD-box ATP-dependent RNA helicase 12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0IHV9 | ddx6 | Probable ATP-dependent RNA helicase ddx6 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSTARTENPV | IMGLSSQNGQ | LRGPVKPTGG | PGGGGTQTQQ | QMNQLKNTNT | INNGTQQQAQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SMTTTIKPGD | DWKKTLKLPP | KDLRIKTSDV | TSTKGNEFED | YCLKRELLMG | IFEMGWEKPS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PIQEESIPIA | LSGRDILARA | KNGTGKSGAY | LIPLLERLDL | KKDNIQAMVI | VPTRELALQV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SQICIQVSKH | MGGAKVMATT | GGTNLRDDIM | RLDDTVHVVI | ATPGRILDLI | KKGVAKVDHV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QMIVLDEADK | LLSQDFVQIM | EDIILTLPKN | RQILLYSATF | PLSVQKFMNS | HLQKPYEINL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MEELTLKGVT | QYYAYVTERQ | KVHCLNTLFS | RLQINQSIIF | CNSSQRVELL | AKKISQLGYS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CFYIHAKMRQ | EHRNRVFHDF | RNGLCRNLVC | TDLFTRGIDI | QAVNVVINFD | FPKLAETYLH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RIGRSGRFGH | LGLAINLITY | DDRFNLKSIE | EQLGTEIKPI | PSNIDKSLYV | AEYHSEPVED |
| EKP |