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FLASH GENE

Symbol

DHX30

contributors: mct - updated : 28-12-2017

HGNC name	DEAH (Asp-Glu-Ala-His) box polypeptide 30
HGNC id	16716

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NEDMIAL Neurodevelopmental disorder with severe motor impairment and absent language
Location	3p21.31      Physical location : 47.844.398 - 47.891.685
Synonym name	retina corepressor
Synonym symbol(s)	KIAA0890, DDX30, FLJ11214, NEDMIAL, RETCOR
EC.number	3.6.4.13

DNA

TYPE	functioning gene
STRUCTURE	47.29 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_138615 22 - 4104 NP_619520 131.3 1194 - 2017 29100085 NM_014966 23 - 4133 NP_055781 127.1 1155 - 2017 29100085 NM_001330990 - - 4253 NP_001317919 - 1166 - 2017 29100085

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 Digestive liver         Endocrine neuroendocrine pituitary     highly Nervous nerve       highly Reproductive female system uterus cervix   highly Respiratory lung

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a DEAD/H box (Asp-Glu-Ala-Asp/His)
	a C terminal RNA helicase domain
	two DRBM (double-stranded RNA -binding) domains
	a DEVH box motif (ATPase/helicase domain)
	two CoRNR motifs that are thought to function as a physical interface for nuclear receptors and are found in co-repressors such as NCoR and SMRT

HOMOLOGY

interspecies

homolog to murine Helg protein

Homologene

FAMILY	DEAD box helicase family
	DExH-box helicases family

CATEGORY

enzyme , RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus
text	mostly diffusely localized throughout the cytoplasm with a slight accumulation in mitochondria, consistent with the distribution of endogenous DHX30

basic FUNCTION	RNA metabolism
	DHX30 is a cellular factor involved in the antiviral function of ZC3HAV1
	DHX30 and DDX28 and FASTKD2 are required for mitochondrial ribosome biogenesis
	acts as an RNA-dependent ATPase

CELLULAR PROCESS	nucleotide, replication
	nucleotide, repair

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

binding

small molecule

protein

DHX30 is required for optimal antiviral activity of ZC3HAV1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NEDMIAL

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS