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FLASH GENE

Symbol

DHX8

contributors: mct - updated : 27-02-2020

HGNC name	DEAH (Asp-Glu-Ala-His) box polypeptide 8
HGNC id	2749

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	60.93 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

in a region duplicated on 16p

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001322216 23 - 4392 NP_001309145 - 945 - 2017 28062851 NM_001322221 23 - 4304 NP_001309150 - 1218 - 2017 28062851 NM_001322217 22 - 4224 NP_001309146 - 1129 - 2017 28062851 NM_001322219 24 - 4231 NP_001309148 - 1169 - 2017 28062851 NM_001322220 23 - 4111 NP_001309149 - 1152 - 2017 28062851 NM_001302623 23 - 3833 NP_001289552 - 1181 - 2017 28062851 NM_001322218 23 - 3827 NP_001309147 - 1179 - 2017 28062851 NM_004941 23 - 5549 NP_004932 - 1220 - 2017 28062851

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 blood / hematopoietic thymus       highly Cardiovascular heart       highly Reproductive male system prostate     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal DEAD/H (Asp-Glu-Ala-Asp/His) domain
	a C terminal helicase domain
	a nuclear localization signal (NLS)
	a RS domain (serine rich domain)

HOMOLOGY

interspecies	ortholog to yeast S.cerevisiae Prp22
	homolog to murine Ddx8
	homolog to Drosophila CG8241
	homolog to C.elegans mog-5

Homologene

FAMILY

DEAD/H box family, DEAH subfamily

CATEGORY

enzyme , RNA associated , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus,nucleoplasm,nuclear bodies
text	transport to nucleus dependent on active RNA POL II transcription

basic FUNCTION	releasing of spliced mRNA from the spliceosome
	putative RNA helicase with RNA dependent ATPase
	is a crucial component of the eukaryotic pre-mRNA splicing machinery
	cellular complexes comprising CACTIN, DHX8 and SRRM2 sustain precise chromosome segregation, genome stability and cell proliferation by allowing faithful splicing of specific pre-mRNAs
	is a crucial DEAH-box RNA helicase involved in splicing and required for the release of mature mRNA from the spliceosome

CELLULAR PROCESS

nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	nuclear export of spliced mRNA

PATHWAY

metabolism

signaling

a component

spliceosome complex

INTERACTION

DNA

RNA

binding

small molecule	nucleotide,
	ATP

protein	SNW1-associated factors DHX8 and PRPF19 are also selectively required for CDKN1A expression under stress
	CACTIN physically and functionally interacts with the spliceosome-associated factors DHX8 and SRRM2

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS