Q84W89

SS
Gene name
RH37 (At2g42520, F14N22.21)
Protein name
DEAD-box ATP-dependent RNA helicase 37
Names
EC 3.6.4.13
Species
Arabidopsis thaliana (Mouse-ear cress)
KEGG Pathway
ath:AT2G42520
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)

385-552 (C-terminal helicase domain) SS

Target domain

183-362 (DEAD box helicase domain)

Relief mechanism

Assay

183-362 (DEAD box helicase domain) SS

Target domain

385-552 (C-terminal helicase domain)

Relief mechanism

Assay

124-161 (N-terminal extension) SS

Target domain

183-362 (DEAD box helicase domain);385-552 (C-terminal helicase domain)

Relief mechanism

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q84W89

Entry ID Method Resolution Chain Position Source
AF-Q84W89-F1 Predicted AlphaFoldDB

34 variants for Q84W89

Variant ID(s) Position Change Description Diseaes Association Provenance
tmp_2_17705499_G_A 40 A>T No 1000Genomes
ENSVATH13619482 53 R>H No 1000Genomes
ENSVATH13619483 62 G>S No 1000Genomes
ENSVATH01981225 67 P>S No 1000Genomes
ENSVATH13619484 69 G>A No 1000Genomes
ENSVATH01981226 70 S>T No 1000Genomes
tmp_2_17705596_T_A 72 V>D No 1000Genomes
ENSVATH05704217 80 Y>H No 1000Genomes
ENSVATH14609071 103 N>Y No 1000Genomes
tmp_2_17705709_C_T 110 R>C No 1000Genomes
ENSVATH05704219 111 R>W No 1000Genomes
tmp_2_17705723_A_T 114 E>D No 1000Genomes
ENSVATH14609073 123 S>F No 1000Genomes
ENSVATH01981229 133 D>E No 1000Genomes
ENSVATH01981228 133 D>G No 1000Genomes
ENSVATH05704220 138 N>S No 1000Genomes
tmp_2_17705880_G_A 167 G>R No 1000Genomes
tmp_2_17705905_G_T 175 R>L No 1000Genomes
ENSVATH13619499 188 H>Y No 1000Genomes
ENSVATH14609089 289 D>V No 1000Genomes
ENSVATH05704233 313 R>K No 1000Genomes
tmp_2_17706731_T_G 314 F>L No 1000Genomes
tmp_2_17706865_A_T 359 E>V No 1000Genomes
ENSVATH13619524 365 A>V No 1000Genomes
tmp_2_17707708_G_A 416 G>D No 1000Genomes
ENSVATH05704255 466 S>N No 1000Genomes
ENSVATH00271376 468 R>K No 1000Genomes
tmp_2_17708515_G_A 558 G>D No 1000Genomes
tmp_2_17708529_C_T 563 R>W No 1000Genomes
ENSVATH05704260 580 F>L No 1000Genomes
ENSVATH01981237 583 G>S No 1000Genomes
ENSVATH13619541 589 G>S No 1000Genomes
ENSVATH14609097 609 G>E No 1000Genomes
tmp_2_17708718_G_A 626 G>R No 1000Genomes

2 associated diseases with Q84W89

[MIM: 303600]: Coffin-Lowry syndrome (CLS)

An X-linked disorder characterized by intellectual disability associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders. {ECO:0000269|PubMed:10094187, ECO:0000269|PubMed:10528858, ECO:0000269|PubMed:14986828, ECO:0000269|PubMed:15214012, ECO:0000269|PubMed:8955270, ECO:0000269|PubMed:9837815}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 300844]: Intellectual developmental disorder, X-linked 19 (XLID19)

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:10319851, ECO:0000269|PubMed:17100996}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An X-linked disorder characterized by intellectual disability associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders. {ECO:0000269|PubMed:10094187, ECO:0000269|PubMed:10528858, ECO:0000269|PubMed:14986828, ECO:0000269|PubMed:15214012, ECO:0000269|PubMed:8955270, ECO:0000269|PubMed:9837815}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:10319851, ECO:0000269|PubMed:17100996}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for Q84W89

Type Name Position InterPro Accession
domain Protein kinase domain 267 - 517 IPR000719
domain SH2 domain 146 - 245 IPR000980
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 268 - 516 IPR001245
domain SH3 domain 81 - 142 IPR001452
active_site Tyrosine-protein kinase, active site 382 - 394 IPR008266
binding_site Protein kinase, ATP binding site 273 - 295 IPR017441
domain Tyrosine-protein kinase, catalytic domain 267 - 516 IPR020635

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

3 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.
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.
peroxisome A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.

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
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.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

28 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5W5U4 DDX4 Probable ATP-dependent RNA helicase DDX4 Bos taurus (Bovine) SS
Q6GVM6 DDX3Y ATP-dependent RNA helicase DDX3Y Pan troglodytes (Chimpanzee) SS
O15523 DDX3Y ATP-dependent RNA helicase DDX3Y Homo sapiens (Human) SS
Q9NQI0 DDX4 Probable ATP-dependent RNA helicase DDX4 Homo sapiens (Human) SS
O00571 DDX3X ATP-dependent RNA helicase DDX3X Homo sapiens (Human) EV
P16381 D1Pas1 Putative ATP-dependent RNA helicase Pl10 Mus musculus (Mouse) SS
Q61496 Ddx4 ATP-dependent RNA helicase DDX4 Mus musculus (Mouse) SS
Q62095 Ddx3y ATP-dependent RNA helicase DDX3Y Mus musculus (Mouse) SS
Q62167 Ddx3x ATP-dependent RNA helicase DDX3X Mus musculus (Mouse) SS
Q6GWX0 DDX4 Probable ATP-dependent RNA helicase DDX4 Sus scrofa (Pig) 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
Q75HJ0 PL10A DEAD-box ATP-dependent RNA helicase 37 Oryza sativa subsp. japonica (Rice) SS
O01836 glh-3 ATP-dependent RNA helicase glh-3 Caenorhabditis elegans PR
D0PV95 laf-1 ATP-dependent RNA helicase laf-1 Caenorhabditis elegans SS
Q8LA13 RH11 DEAD-box ATP-dependent RNA helicase 11 Arabidopsis thaliana (Mouse-ear cress) SS
Q9M2F9 RH52 DEAD-box ATP-dependent RNA helicase 52 Arabidopsis thaliana (Mouse-ear cress) SS
Q9C718 RH20 DEAD-box ATP-dependent RNA helicase 20 Arabidopsis thaliana (Mouse-ear cress) PR
Q94A52 EIF4A3 Eukaryotic initiation factor 4A-III homolog Arabidopsis thaliana (Mouse-ear cress) PR
Q56XG6 RH15 DEAD-box ATP-dependent RNA helicase 15 Arabidopsis thaliana (Mouse-ear cress) PR
Q93ZG7 RH38 DEAD-box ATP-dependent RNA helicase 38 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LFN6 RH56 DEAD-box ATP-dependent RNA helicase 56 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SZB4 RH43 Putative DEAD-box ATP-dependent RNA helicase 43 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LU46 RH35 DEAD-box ATP-dependent RNA helicase 35 Arabidopsis thaliana (Mouse-ear cress) PR
Q3E9C3 RH58 DEAD-box ATP-dependent RNA helicase 58, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
Q8W4R3 RH30 DEAD-box ATP-dependent RNA helicase 30 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FZ92 RH44 Putative DEAD-box ATP-dependent RNA helicase 44 Arabidopsis thaliana (Mouse-ear cress) PR
Q8H136 RH14 DEAD-box ATP-dependent RNA helicase 14 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSASWADVAD SENTGSGSSN QNSHPSRPAY VPPHLRNRPA ASEPVAPLPA NDRVGYGGPP
70 80 90 100 110 120
SGSRWAPGGS GVGVGGGGGY RADAGRPGSG SGYGGRGGGG WNNRSGGWDR REREVNPFEN
130 140 150 160 170 180
DDSEPEPAFT EQDNTVINFD AYEDIPIETS GDNVPPPVNT FAEIDLGEAL NLNIRRCKYV
190 200 210 220 230 240
KPTPVQRHAI PILLEGRDLM ACAQTGSGKT AAFCFPIISG IMKDQHVQRP RGSRTVYPLA
250 260 270 280 290 300
VILSPTRELA SQIHDEAKKF SYQTGVKVVV AYGGTPINQQ LRELERGVDI LVATPGRLND
310 320 330 340 350 360
LLERARVSMQ MIRFLALDEA DRMLDMGFEP QIRKIVEQMD MPPRGVRQTL LFSATFPREI
370 380 390 400 410 420
QRLAADFLAN YIFLAVGRVG SSTDLIVQRV EFVLDSDKRS HLMDLLHAQR ENGIQGKQAL
430 440 450 460 470 480
TLVFVETKRG ADSLENWLCI NGFPATSIHG DRTQQEREVA LKAFKSGRTP ILVATDVAAR
490 500 510 520 530 540
GLDIPHVAHV VNFDLPNDID DYVHRIGRTG RAGKSGLATA FFNDGNTSLA RPLAELMQEA
550 560 570 580 590 600
NQEVPEWLTR YASRSSFGGG KNRRSGGRFG GRDFRREGSF GSGRGGYGGG GGGYGGGGGY
610 620 630
GGGGGYGGGG GYGGGYGGAS SGGYGGEPPS AWD