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FLASH GENE

Symbol

DDX1

contributors: mct/pgu - updated : 13-03-2023

HGNC name	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1
HGNC id	2734

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	39.46 kb     26 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004939 26 - 2706 NP_004930 - 740 - 1996 8875996

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine thyroid       highly Nervous brain       highly   spinal cord         Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial         Nervous central

cell lineage
cell lines	retinoblastoma cell lines
	expressed in many cell types early in development, that later becomes restricted
fluid/secretion

at STAGE

physiological period

embryo

Text	neuroectodermal origin

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a SPRY domain
	one helicase ATP-binding domain
	one helicase C terminal domain

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to murine ddx1 (97.6pc)
	homolog to rattus Ddx1 (97.7pc)

Homologene

FAMILY	DEAD box RNA helicase family
	DDX1 subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytosolic,granule
	intracellular,nucleus,nucleoplasm

basic FUNCTION	RNA helicase with RNA dependent ATPase activity
	is required for testicular tumorigenesis
	specific roles in differentiated cells
	cofactor in various biological processes
	is required for both Rev activity and HIV production from infected cells
	DDX3X, DDX1 and DHX9 are among the helicases that are required for the replication of a diverse range of viruses
	DDX1 and DDX3X DEAD-box RNA helicases are known to be required for efficient HIV-1 Rev-dependent RNA export
	plays an important role in tRNA and mRNA processing, is involved in tumor progression and is also hijacked by several virus families such as HIV-1 for replication and nuclear export
	potential role for DDX1 in resolving RNA-DNA structures that accumulate at DSBs located at sites of active transcription
	DDX1 and RIF1 have different nucleic acid requirements for accumulation at DSBs, with RNA-DNA hybrids required for DDX1 accrual at DSBs, and single-strand RNA required for accumulation of RIF1 at these sites
	important role for DDX1 in the regulation of gene alternative splicing and insulin secretion in pancreatic beta cells
	novel role for DDX1 in maintaining cytoplasmic mRNA levels in cells exposed to oxidative stress

CELLULAR PROCESS	cell cycle
	cell life, proliferation/growth
	nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

development

text	spliceosome assembly proliferation

PATHWAY

metabolism

signaling

a component

DDX1-DDX21-DHX36 complex represents a dsRNA sensor that uses the TICAM1 pathway to activate type I IFN responses in the cytosol of myeloid dendritic cells (mDCs)

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding
	strong cooperativity in binding of RNA and ATP to DDX1 that is also reflected in ATP hydrolysis

protein	interacting with RELA, recruiting it to NF-KB-binding promoter sequences
	binding HIV Regulator of virion (Rev) protein, hwihc is required for nuclear export of viral transcripts v)
	acts potentially as a cellular cofactor by promoting oligomerization of Rev on the Rev response element (RRE)
	subcellular localization of KHSRP is regulated by competing interactions with DDX1 or 14-3-3
	DDX1, a RNA helicase also implicated in DSB repair, interacts with RIF1, with co-localization of DDX1 and RIF1 observed throughout interphase
	LGR5 is likely a critical effector of DDX1 in colorectal cancer cells
	FAM98A associates with stress granule-localized proteins, such as DDX1, ATXN2, ATXN2L, and NUFIP2
	DDX1 controls access to subsets of key maternal RNAs required for early embryonic development
	nuclear role for GLE1 in coordinating DDX1 function in transcription termination complexes

cell & other

REGULATION

Other

phosphorylated by ATM, phosphorylation enhanced by ionizing radiation, suggesting a role in the repair of dsDNA breaks

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     co-amplified with MYCN in neuroblastoma tumoral   amplification     in retinoblastoma, neuroblastoma, lung small cell carcinoma with poor prognosis

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive colon DDX1-LGR5 axis could be a new drug target for colorectal cancer

ANIMAL & CELL MODELS

Ddx1 knockout in early mouse embryos disrupts calcium distribution, and increases mitochondria membrane potential, mitochondrial activity, and reactive oxygen species