DQX1

Summary

DQX1 (DEAQ-box RNA dependent ATPase 1, HGNC:20410) is a protein-coding gene on chromosome 2p13.1, encoding ATP-dependent RNA helicase homolog DQX1 (Q8TE96). Might be involved in RNA metabolism; it is missing helicase motif III and may not have helicase activity.

Predicted to enable RNA binding activity and helicase activity. Predicted to be located in nucleus. Predicted to be part of spliceosomal complex.

Source: NCBI Gene 165545 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 98 total
• MANE Select transcript: NM_133637

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20410
Approved symbol	DQX1
Name	DEAQ-box RNA dependent ATPase 1
Location	2p13.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23757
Ensembl gene	ENSG00000144045
Ensembl biotype	protein_coding
OMIM	620580
Entrez	165545

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000393951, ENST00000404568, ENST00000418139, ENST00000451518, ENST00000473508, ENST00000483555, ENST00000495597, ENST00000498552, ENST00000930920

RefSeq mRNA: 1 — MANE Select: NM_133637 NM_133637

CCDS: CCDS1949

Canonical transcript exons

ENST00000404568 — 12 exons

Exon	Start	End
ENSE00000963394	74523310	74523537
ENSE00000963395	74523119	74523218
ENSE00000963396	74522856	74523014
ENSE00001816557	74526136	74526231
ENSE00003462269	74518131	74518602
ENSE00003466268	74519040	74519230
ENSE00003471495	74523923	74524307
ENSE00003517102	74522580	74522771
ENSE00003571021	74519556	74519746
ENSE00003595654	74525009	74525202
ENSE00003600603	74525493	74525748
ENSE00003628083	74519915	74520034

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 92.42.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2789 / max 47.6577, expressed in 72 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29232	0.1876	62
29231	0.0800	22
29230	0.0113	6

Top tissues by expression

247 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	92.42	gold quality
rectum	UBERON:0001052	90.74	gold quality
jejunal mucosa	UBERON:0000399	90.72	gold quality
duodenum	UBERON:0002114	89.82	gold quality
ileal mucosa	UBERON:0000331	87.91	gold quality
transverse colon	UBERON:0001157	86.29	gold quality
small intestine Peyer’s patch	UBERON:0003454	86.10	gold quality
small intestine	UBERON:0002108	85.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.67	gold quality
lower esophagus mucosa	UBERON:0035834	82.77	gold quality
esophagus mucosa	UBERON:0002469	79.59	gold quality
colonic mucosa	UBERON:0000317	78.01	gold quality
intestine	UBERON:0000160	77.48	gold quality
jejunum	UBERON:0002115	76.50	gold quality
mucosa of sigmoid colon	UBERON:0004993	75.99	gold quality
large intestine	UBERON:0000059	75.02	gold quality
colon	UBERON:0001155	74.84	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.51	gold quality
skin of abdomen	UBERON:0001416	74.33	gold quality
body of stomach	UBERON:0001161	73.05	gold quality
kidney epithelium	UBERON:0004819	72.24	gold quality
cardiac muscle of right atrium	UBERON:0003379	71.86	gold quality
left ventricle myocardium	UBERON:0006566	71.10	gold quality
skin of leg	UBERON:0001511	70.34	gold quality
stomach	UBERON:0000945	70.08	gold quality
vermiform appendix	UBERON:0001154	69.76	gold quality
zone of skin	UBERON:0000014	69.48	gold quality
upper arm skin	UBERON:0004263	68.08	gold quality
myocardium	UBERON:0002349	67.87	gold quality
vagina	UBERON:0000996	67.40	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting DQX1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128
HSA-MIR-8066	99.05	68.66	1532
HSA-MIR-629-5P	98.78	68.72	1032
HSA-MIR-299-5P	98.56	71.14	1140
HSA-MIR-6776-5P	98.54	67.43	1304
HSA-MIR-3668	98.52	68.76	951
HSA-MIR-4457	98.09	67.12	1274
HSA-MIR-6883-3P	97.97	67.35	643
HSA-MIR-3620-3P	97.78	64.88	772
HSA-MIR-10397-3P	97.78	65.70	601
HSA-MIR-6879-3P	93.93	64.00	759

Literature-anchored findings (GeneRIF, showing 1)

• Integrative analysis of DNA methylation-driven genes for the prognosis of lung squamous cell carcinoma using MethylMix. (PMID:32218699)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dqx1	ENSDARG00000059455
mus_musculus	Dqx1	ENSMUSG00000009145
rattus_norvegicus	Dqx1	ENSRNOG00000008062

Paralogs (18): DHX33 (ENSG00000005100), YTHDC2 (ENSG00000047188), DHX29 (ENSG00000067248), DHX8 (ENSG00000067596), DHX32 (ENSG00000089876), DHX35 (ENSG00000101452), DHX40 (ENSG00000108406), DHX15 (ENSG00000109606), HELB (ENSG00000127311), DHX30 (ENSG00000132153), DHX34 (ENSG00000134815), DHX9 (ENSG00000135829), DHX38 (ENSG00000140829), DHX37 (ENSG00000150990), TDRD9 (ENSG00000156414), DHX57 (ENSG00000163214), DHX36 (ENSG00000174953), DHX16 (ENSG00000204560)

Protein

Protein identifiers

ATP-dependent RNA helicase homolog DQX1 — Q8TE96 (reviewed: Q8TE96)

Alternative names: DEAQ box polypeptide 1

All UniProt accessions (3): Q8TE96, C9J0W1, H7BZE3

UniProt curated annotations — full annotation on UniProt →

Function. Might be involved in RNA metabolism; it is missing helicase motif III and may not have helicase activity.

Subcellular location. Nucleus.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TE96-1	1	yes
Q8TE96-2	2
Q8TE96-3	3

RefSeq proteins (1): NP_598376* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007502	Helicase-assoc_dom	Domain
IPR011709	DEAD-box_helicase_OB_fold	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR048333	HA2_WH	Domain

Pfam: PF04408, PF07717, PF21010

UniProt features (14 total): sequence conflict 4, splice variant 3, domain 2, chain 1, region of interest 1, short sequence motif 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TE96-F1	87.42	0.66

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 70–77

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 65 (showing top): AACWWCAANK_UNKNOWN, TCF4_Q5, ZIC1_01, RYTTCCTG_ETS2_B, LEF1_Q6, TCCCRNNRTGC_UNKNOWN, SPZ1_01, GOCC_SPLICEOSOMAL_COMPLEX, GOCC_RIBONUCLEOPROTEIN_COMPLEX, LINDGREN_BLADDER_CANCER_CLUSTER_1_DN, SMAD_Q6, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_ISOMERASE_ACTIVITY, MIKKELSEN_MCV6_LCP_WITH_H3K4ME3, MIKKELSEN_IPS_LCP_WITH_H3K4ME3

GO Biological Process (0):

GO Molecular Function (4): RNA binding (GO:0003723), helicase activity (GO:0004386), ATP binding (GO:0005524), nucleotide binding (GO:0000166)

GO Cellular Component (2): spliceosomal complex (GO:0005681), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
ATP-dependent activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2218 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DQX1	TTC31	Q49AM3	608
DQX1	AUP1	Q9Y679	506
DQX1	CCDC142	Q17RM4	500
DQX1	ZNF418	Q8TF45	447
DQX1	C2orf81	A6NN90	428
DQX1	INO80B	Q9C086	425
DQX1	PCGF1	Q9BSM1	423
DQX1	FOXD4L6	Q3SYB3	420
DQX1	STOX2	Q9P2F5	408
DQX1	A0A0B4J1T7	A0A0B4J1T7	406
DQX1	WDR54	Q9H977	401
DQX1	ZNF701	Q9NV72	398
DQX1	EFCC1	Q9HA90	397
DQX1	RBM34	P42696	396
DQX1	TLX2	O43763	392
DQX1	C1orf50	Q9BV19	392

IntAct

4 interactions, top by confidence:

A	B	Type	Score
DQX1	Dlg4	psi-mi:“MI:0407”(direct interaction)	0.440
DQX1	CFTR	psi-mi:“MI:0915”(physical association)	0.370
DQX1	MYO9A	psi-mi:“MI:0914”(association)	0.350

BioGRID (31): MYO9A (Affinity Capture-MS), LRIF1 (Affinity Capture-MS), MYO5C (Affinity Capture-MS), PSMG4 (Affinity Capture-MS), MYO9B (Affinity Capture-MS), KIF1A (Affinity Capture-MS), APPBP2 (Affinity Capture-MS), FBXO30 (Affinity Capture-MS), PER1 (Affinity Capture-MS), PEAK1 (Affinity Capture-MS), MTO1 (Affinity Capture-MS), LOC81691 (Affinity Capture-MS), NDUFA3 (Affinity Capture-MS), DQX1 (Affinity Capture-MS), DQX1 (Synthetic Lethality)

ESM2 similar proteins: A0A061IR73, A0A1B0GUU1, A6H687, A8MYJ7, B1WC39, D3ZVB0, E1BD59, G3MY25, G3MZC5, O75064, P07199, P27790, P29597, P48988, P52333, P52824, Q08DF2, Q0VCE3, Q13608, Q1JPD6, Q2VPB7, Q3TAP4, Q3U1Y4, Q3ZBE0, Q499M4, Q53EQ6, Q5JZY3, Q62137, Q63272, Q6B0B8, Q6DI92, Q6ZPS2, Q6ZS72, Q7TM95, Q80VI1, Q86UT6, Q8BYG9, Q8N9M5, Q8R5G7, Q8TE96

Diamond homologs: A1Z9L3, A2A4P0, B4GEU5, B4JT42, B4K5R2, B4RC48, D4A2Z8, F4HYJ7, F4IE66, F4IJV4, F4ILR7, F4IM84, F4JMJ3, F4JRJ6, F4K2E9, F4KGU4, O17438, O22243, O22899, O35286, O42643, O42945, O43143, O45244, O46072, O51767, O60114, O60231, O70133, O94536, P0C7L7, P0CE10, P15938, P20095, P24384, P34305, P34498, P36009, P37024, P43329

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

98 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1921 predictions. Top by Δscore:

Variant	Effect	Δscore
2:74522574:TTATA:T	donor_loss	1.0000
2:74522575:TATA:T	donor_loss	1.0000
2:74522576:ATAC:A	donor_loss	1.0000
2:74522577:TA:T	donor_loss	1.0000
2:74522578:ACCTG:A	donor_loss	1.0000
2:74522579:CCTG:C	donor_loss	1.0000
2:74525550:A:AC	donor_gain	1.0000
2:74525551:C:CC	donor_gain	1.0000
2:74525554:T:A	donor_gain	1.0000
2:74519235:T:TC	acceptor_gain	0.9900
2:74519571:TGA:T	donor_gain	0.9900
2:74519913:A:AC	donor_gain	0.9900
2:74519914:C:CC	donor_gain	0.9900
2:74520032:CAG:C	acceptor_gain	0.9900
2:74520035:C:CC	acceptor_gain	0.9900
2:74523309:CA:C	donor_gain	0.9900
2:74525039:T:TA	donor_gain	0.9900
2:74525489:ACAC:A	donor_loss	0.9900
2:74525491:A:T	donor_loss	0.9900
2:74525505:G:A	donor_gain	0.9900
2:74525519:C:CA	donor_gain	0.9900
2:74525520:C:A	donor_gain	0.9900
2:74525539:C:CA	donor_gain	0.9900
2:74525551:CT:C	donor_gain	0.9900
2:74525553:CTCCA:C	donor_gain	0.9900
2:74519228:CACCT:C	acceptor_gain	0.9800
2:74519908:AAC:A	donor_loss	0.9800
2:74519909:ACTC:A	donor_loss	0.9800
2:74519911:TCA:T	donor_loss	0.9800
2:74519912:CA:C	donor_loss	0.9800

AlphaMissense

4576 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:74519226:G:T	A604D	0.996
2:74519569:C:T	G598E	0.996
2:74519113:A:G	W642R	0.995
2:74519113:A:T	W642R	0.995
2:74519200:A:C	Y613D	0.994
2:74519227:C:G	A604P	0.994
2:74519059:A:G	S660P	0.993
2:74522617:A:C	C486W	0.993
2:74525499:G:C	S77R	0.993
2:74525499:G:T	S77R	0.993
2:74525501:T:G	S77R	0.993
2:74519104:A:C	Y645D	0.992
2:74522691:C:G	G462R	0.992
2:74522642:A:G	L478P	0.991
2:74519578:A:G	L595P	0.990
2:74519665:A:G	L566P	0.990
2:74525188:A:C	C84W	0.990
2:74525190:A:G	C84R	0.990
2:74525193:A:G	W83R	0.990
2:74525193:A:T	W83R	0.990
2:74519106:A:G	L644P	0.989
2:74519172:G:T	A622D	0.989
2:74519581:G:T	A594E	0.989
2:74519582:C:G	A594P	0.989
2:74524304:G:C	F145L	0.989
2:74524304:G:T	F145L	0.989
2:74524306:A:G	F145L	0.989
2:74519570:C:G	G598R	0.988
2:74519570:C:T	G598R	0.988
2:74519590:A:G	L591P	0.988

dbSNP variants (sampled 300 via entrez): RS1000365630 (2:74521030 T>C), RS1000740980 (2:74522374 G>A,C), RS1000944255 (2:74523549 G>A), RS1001504940 (2:74521581 C>CAG), RS1001978985 (2:74525337 A>G), RS1002207424 (2:74521909 A>G), RS1002823960 (2:74520143 C>G), RS1002947900 (2:74526442 A>G,T), RS1003286889 (2:74519781 C>T), RS1003504531 (2:74524855 C>T), RS1003704523 (2:74518060 C>T), RS1003799144 (2:74521378 C>T), RS1004231660 (2:74521813 G>A,C), RS1004390260 (2:74524737 G>A,C,T), RS1004395859 (2:74518973 T>C)

Disease associations

OMIM: gene MIM:620580 | disease phenotypes: MIM:617468, MIM:208150

GenCC curated gene-disease

Mondo (2): arthrogryposis multiplex congenita (MONDO:0015168), fetal akinesia deformation sequence 1 (MONDO:0100101)

Orphanet (2): Arthrogryposis multiplex congenita (Orphanet:1037), Fetal akinesia deformation sequence (Orphanet:994)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST90002400_319	Plateletcrit	1.000000e-13
GCST90002402_240	Platelet count	1.000000e-15

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression	3
Nickel	decreases expression	2
Aflatoxin B1	increases expression	2
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
mercuric bromide	affects cotreatment, increases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
nutlin 3	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	increases expression, affects cotreatment	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Niclosamide	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Cyclosporine	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

4 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05393375	Not specified	COMPLETED	Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
NCT05673265	Not specified	UNKNOWN	Pediatric and Adult Registry for Patients With ARThrogryposis
NCT06130592	Not specified	UNKNOWN	Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound
NCT07360574	Not specified	NOT_YET_RECRUITING	Piezo2-related Arthrogryposis & physiopathOLOgy 3