Entity Details

Primary name DHX30_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7L2E3
EntryNameDHX30_HUMAN
FullNameATP-dependent RNA helicase DHX30
TaxID9606
Evidenceevidence at protein level
Length1194
SequenceStatuscomplete
DateCreated2006-07-11
DateModified2021-06-02

Ontological Relatives

GenesDHX30

GO terms

Show/Hide Table
GOName
GO:0003682 chromatin binding
GO:0003723 RNA binding
GO:0003724 RNA helicase activity
GO:0003725 double-stranded RNA binding
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0007417 central nervous system development
GO:0035770 ribonucleoprotein granule
GO:0042645 mitochondrial nucleoid
GO:1902775 mitochondrial large ribosomal subunit assembly

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Mitochondrion
Mitochondrion matrix

Domains

Show/Hide Table
DomainNameCategoryType
IPR001650 Helicase, C-terminalDomainDomain
IPR002464 DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved siteSiteConserved site
IPR007502 Helicase-associated domainDomainDomain
IPR011545 DEAD/DEAH box helicase domainDomainDomain
IPR011709 Domain of unknown function DUF1605DomainDomain
IPR014001 Helicase superfamily 1/2, ATP-binding domainDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
617804 OMIMNeurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL)An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual disability, severe speech impairment and gait abnormalities. The disease is caused by variants affecting the gene represented in this entry.