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FLASH GENE

Symbol

DDX1

contributors: mct/pgu - updated : 18-11-2013

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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2p24.3      Physical location : 15.731.769 - 15.771.224
Synonym name	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1
	DEAD box-1
	DEAD box protein retinoblastoma
	ATP-dependent RNA helicase DDX1
Synonym symbol(s)	DBP-RB, UKVH5d
EC.number	3.6.4.13

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 helicase family
	DDX1 subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic,granule
	intracellular,nucleus

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

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

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

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

ANIMAL & CELL MODELS