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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
Location 17q21.31      Physical location : 41.561.333 - 41.601.680
Synonym name
  • sperm autoantigenic protein 17
  • human RNA helicase 1
  • Synonym symbol(s) PRP22, HRH1, DDX8, C6C1, Dhr2, PRPF22
    EC.number 3.6.4.13
    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
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 4392 - 945 - 2017 28062851
    23 - 4304 - 1218 - 2017 28062851
    22 - 4224 - 1129 - 2017 28062851
    24 - 4231 - 1169 - 2017 28062851
    23 - 4111 - 1152 - 2017 28062851
    23 - 3833 - 1181 - 2017 28062851
    23 - 3827 - 1179 - 2017 28062851
    23 - 5549 - 1220 - 2017 28062851
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Cardiovascularheart   highly
    Reproductivemale systemprostate  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    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