O15523

SS
Gene name
DDX3Y (DBY)
Protein name
ATP-dependent RNA helicase DDX3Y
Names
EC 3.6.4.13 , DEAD box protein 3, Y-chromosomal
Species
Homo sapiens (Human)
KEGG Pathway
hsa:8653
EC number
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

DEAD-box proteins utilize ATP to bind and remodel RNA and RNA-protein complexes. The Ded1/DDX3 subfamily of DEAD-box proteins is of particular interest as their function during protein translation, are essential for viability, and are frequently altered in human malignancies. <br>There is a unique interdomain interaction between the two ATPase domains (DEAD box helicase domain and helicase domain) in which the C-terminal helicase domain clashes with the RNA-binding surface. Destabilizing this interaction accelerates RNA duplex unwinding, suggesting that it is present in solution and inhibitory for catalysis. The N-terminal extension to the DEAD box helicase interacts with DEAD box helicase domain and C-terminal helicase domain, and stabilizes the autoinhibited state of DDX3X.

Autoinhibitory domains (AIDs)

412-573 (C-terminal helicase domain) SS

Target domain

202-389 (DEAD box helicase domain)

Relief mechanism

Assay

202-389 (DEAD box helicase domain) SS

Target domain

412-573 (C-terminal helicase domain)

Relief mechanism

Assay

130-180 (N-terminal extension) SS

Target domain

202-389 (DEAD box helicase domain);412-573 (C-terminal helicase domain)

Relief mechanism

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for O15523

Entry ID Method Resolution Chain Position Source
AF-O15523-F1 Predicted AlphaFoldDB

104 variants for O15523

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1238970065 4 V>A No gnomAD
rs2053607522 10 P>A No Ensembl
rs1475500284 13 D>H No gnomAD
rs1194075643 30 A>G No gnomAD
COSM6188347
COSM6188346
 36 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2053621151 36 G>V No Ensembl
rs1295686202 45 N>Y No gnomAD
rs1383642650 53 H>R No gnomAD
COSM4392804 55 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751695668 67 D>G No ExAC
gnomAD
rs866308990 71 S>I No Ensembl
rs1569394955 72 F>L No Ensembl
rs1304950054 76 D>N No gnomAD
COSM758048 82 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1371361914 87 R>L No gnomAD
rs774074477 97 D>N No ExAC
gnomAD
rs1362609072 98 R>H No gnomAD
COSM4930470 101 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771714445 104 D>G No ExAC
gnomAD
rs934389669 105 G>R No gnomAD
rs934389669 105 G>S No gnomAD
COSM3372916 106 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1439750349 107 G>A No gnomAD
rs1323420701 112 P>T No gnomAD
rs373539916 115 G>V No ESP
ExAC
gnomAD
rs754776352 119 R>W No 1000Genomes
ExAC
gnomAD
TCGA novel 121 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1603206929 132 D>Y No Ensembl
rs2053633413 133 D>E No Ensembl
rs2053633465 134 W>* No Ensembl
rs2053633617 136 K>Q No Ensembl
rs2053633689 137 P>A No Ensembl
rs2053633763 138 L>I No Ensembl
rs776611441 145 E>A No ExAC
rs2053633996 146 Q>R No gnomAD
COSM488713 158 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs72625303 163 D>N No Ensembl
rs1044700159 168 A>G No gnomAD
rs370942118 183 I>T No ESP
COSM122538 184 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 192 N>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1293777258 194 E>D No gnomAD
rs1603207086 198 Y>F No Ensembl
rs771837101 221 C>F No ExAC
rs772898441 223 Q>P No ExAC
COSM4111708 233 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs759322345 240 I>L No ExAC
gnomAD
rs769695215 241 Y>H No ExAC
gnomAD
rs1420961844 242 T>I No gnomAD
rs775130718 247 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs111406208 248 A>S No Ensembl
rs762068024 251 A>T No ExAC
gnomAD
rs867970646 261 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs768962842 266 I>V No 1000Genomes
ExAC
gnomAD
rs770581863 268 L>V No ExAC
TCGA novel 277 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2148299359 290 R>L No Ensembl
TCGA novel 291 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs111236799 300 G>D No Ensembl
rs776947467 304 I>T No 1000Genomes
ExAC
COSM1469991 313 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765632269 319 V>L No ExAC
rs1603207337 331 R>K No Ensembl
rs1603207338 332 G>A No Ensembl
rs868371666 338 F>V No Ensembl
TCGA novel 349 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765314448 397 E>D No ExAC
gnomAD
COSM3584391 403 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764607749 409 T>A No ExAC
gnomAD
rs1569395631 421 E>K No Ensembl
rs755590683 437 G>E No ExAC
gnomAD
rs72625359 438 S>T No 1000Genomes
ESP
ExAC
gnomAD
rs749289552 457 D>N No ExAC
gnomAD
rs1388926420 461 H>R No gnomAD
COSM3584392 462 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1411850913 465 A>T No gnomAD
rs1329984392 480 E>D No gnomAD
rs767321283 483 H>Y No 1000Genomes
ExAC
gnomAD
rs1295600454 489 K>R No gnomAD
rs778730090 490 S>R No ExAC
gnomAD
rs762105875 546 K>R No ExAC
gnomAD
rs372942629 548 M>R No ESP
ExAC
gnomAD
rs372942629 548 M>T No ESP
ExAC
gnomAD
rs755785977 552 K>R No ExAC
gnomAD
rs1340978083 570 E>A No gnomAD
rs941846444 572 M>V No Ensembl
rs753324813 577 H>R No ExAC
gnomAD
rs765932038 577 H>Y No ExAC
gnomAD
rs754950089 581 G>S No ExAC
gnomAD
rs778854972 583 R>C No ExAC
gnomAD
COSM4111709 605 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1486804973 607 S>G No gnomAD
rs773611834 608 S>G No ExAC
gnomAD
rs1247434567 608 S>N No gnomAD
rs2053652910 609 S>P No gnomAD
rs760295342 612 G>S No ExAC
gnomAD
rs1195693304 616 G>R No gnomAD
rs765985029 617 S>G No ExAC
gnomAD
rs200975071 621 S>T No 1000Genomes
ESP
ExAC
gnomAD
rs759069833 626 Y>C No ExAC
gnomAD
TCGA novel 627 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs3192834 628 N>D No Ensembl
rs1454747456 628 N>K No gnomAD
rs1603207753 630 R>K No Ensembl

1 associated diseases with O15523

Without disease ID

5 regional properties for O15523

Type Name Position InterPro Accession
conserved_site ATP-dependent RNA helicase DEAD-box, conserved site 343 - 351 IPR000629
domain Helicase, C-terminal domain-like 412 - 573 IPR001650
domain DEAD/DEAH box helicase domain 202 - 389 IPR011545
domain Helicase superfamily 1/2, ATP-binding domain 197 - 416 IPR014001
domain RNA helicase, DEAD-box type, Q motif 178 - 206 IPR014014

Functions

Description
EC Number 3.6.4.13 Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization
  • Cytoplasm
  • Nucleus
  • Shuttles between the nucleus and the cytoplasm in an XPO1-dependent manner
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
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 and attached to it.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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 granule A small cytoplasmic, non-membranous RNA/protein complex aggregate in the primordial germ cells of many higher eukaryotes.

5 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
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
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.
RNA helicase activity Unwinding of an RNA helix, driven by ATP hydrolysis.

3 GO annotations of biological process

Name Definition
cell differentiation The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
gamete generation The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell.
negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).

22 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6GVM6 DDX3Y ATP-dependent RNA helicase DDX3Y Pan troglodytes (Chimpanzee) SS
P38919 EIF4A3 Eukaryotic initiation factor 4A-III Homo sapiens (Human) PR
Q9NQI0 DDX4 Probable ATP-dependent RNA helicase DDX4 Homo sapiens (Human) SS
O00571 DDX3X ATP-dependent RNA helicase DDX3X Homo sapiens (Human) EV
Q9UHL0 DDX25 ATP-dependent RNA helicase DDX25 Homo sapiens (Human) PR
Q9UMR2 DDX19B ATP-dependent RNA helicase DDX19B Homo sapiens (Human) PR
Q9NUU7 DDX19A ATP-dependent RNA helicase DDX19A Homo sapiens (Human) PR
P17844 DDX5 Probable ATP-dependent RNA helicase DDX5 Homo sapiens (Human) PR
O00148 DDX39A ATP-dependent RNA helicase DDX39A Homo sapiens (Human) PR
Q13838 DDX39B Spliceosome RNA helicase DDX39B Homo sapiens (Human) PR
Q9UJV9 DDX41 Probable ATP-dependent RNA helicase DDX41 Homo sapiens (Human) PR
Q62095 Ddx3y ATP-dependent RNA helicase DDX3Y Mus musculus (Mouse) SS
P16381 D1Pas1 Putative ATP-dependent RNA helicase Pl10 Mus musculus (Mouse) SS
Q62167 Ddx3x ATP-dependent RNA helicase DDX3X Mus musculus (Mouse) SS
Q75HJ0 PL10A DEAD-box ATP-dependent RNA helicase 37 Oryza sativa subsp. japonica (Rice) SS
Q2R1M8 Os11g0599500 DEAD-box ATP-dependent RNA helicase 52C Oryza sativa subsp. japonica (Rice) SS
Q6Z4K6 PL10B DEAD-box ATP-dependent RNA helicase 52B Oryza sativa subsp. japonica (Rice) SS
D0PV95 laf-1 ATP-dependent RNA helicase laf-1 Caenorhabditis elegans SS
O01836 glh-3 ATP-dependent RNA helicase glh-3 Caenorhabditis elegans PR
Q84W89 RH37 DEAD-box ATP-dependent RNA helicase 37 Arabidopsis thaliana (Mouse-ear cress) SS
Q9M2F9 RH52 DEAD-box ATP-dependent RNA helicase 52 Arabidopsis thaliana (Mouse-ear cress) SS
Q8LA13 RH11 DEAD-box ATP-dependent RNA helicase 11 Arabidopsis thaliana (Mouse-ear cress) SS
10 20 30 40 50 60
MSHVVVKNDP ELDQQLANLD LNSEKQSGGA STASKGRYIP PHLRNREASK GFHDKDSSGW
70 80 90 100 110 120
SCSKDKDAYS SFGSRDSRGK PGYFSERGSG SRGRFDDRGR SDYDGIGNRE RPGFGRFERS
130 140 150 160 170 180
GHSRWCDKSV EDDWSKPLPP SERLEQELFS GGNTGINFEK YDDIPVEATG SNCPPHIENF
190 200 210 220 230 240
SDIDMGEIIM GNIELTRYTR PTPVQKHAIP IIKGKRDLMA CAQTGSGKTA AFLLPILSQI
250 260 270 280 290 300
YTDGPGEALK AVKENGRYGR RKQYPISLVL APTRELAVQI YEEARKFSYR SRVRPCVVYG
310 320 330 340 350 360
GADIGQQIRD LERGCHLLVA TPGRLVDMME RGKIGLDFCK YLVLDEADRM LDMGFEPQIR
370 380 390 400 410 420
RIVEQDTMPP KGVRHTMMFS ATFPKEIQML ARDFLDEYIF LAVGRVGSTS ENITQKVVWV
430 440 450 460 470 480
EDLDKRSFLL DILGATGSDS LTLVFVETKK GADSLEDFLY HEGYACTSIH GDRSQRDREE
490 500 510 520 530 540
ALHQFRSGKS PILVATAVAA RGLDISNVRH VINFDLPSDI EEYVHRIGRT GRVGNLGLAT
550 560 570 580 590 600
SFFNEKNMNI TKDLLDLLVE AKQEVPSWLE NMAYEHHYKG GSRGRSKSNR FSGGFGARDY
610 620 630 640 650
RQSSGSSSSG FGASRGSSSR SGGGGYGNSR GFGGGGYGGF YNSDGYGGNY NSQGVDWWGN