2. Gene
  3. DHX30 - DExH-box helicase 30 Gene

DHX30 - DExH-box helicase 30 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DDX30; RETCOR; NEDMIAL

Gene ID: 22907 | Gene type: protein coding

About DHX30

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:47,803,138-47,850,193 (from NCBI)

This gene has 15 transcripts (splice variants), 190 orthologues, 18 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 30.7), brain (RPKM 11.0) and 25 other tissues.

Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger Antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

DHX30 Products(3)

mRNA Protein Name
NM_001330990.2 NP_001317919.1 ATP-dependent RNA helicase DHX30 isoform 4
NM_014966.4 NP_055781.2 ATP-dependent RNA helicase DHX30 isoform 2
NM_138615.3 NP_619520.1 ATP-dependent RNA helicase DHX30 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables RNA binding IDA
IDA: Inferred from direct assay
29100085 GOA
enables RNA helicase activity IDA
IDA: Inferred from direct assay
29100085 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
18063578 GOA
enables double-stranded RNA binding IDA
IDA: Inferred from direct assay
21266579 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17932509 GOA
Biological Process GO Annotation Evidence Reference Source
involved in mitochondrial large ribosomal subunit assembly IMP
IMP: Inferred from mutant phenotype
25683715 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
29100085 GOA
located in mitochondrial nucleoid IDA
IDA: Inferred from direct assay
18063578 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
29100085 GOA
located in ribonucleoprotein granule IDA
IDA: Inferred from direct assay
25683715 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DHX30 Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (445 - 594)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (697 - 786)

HA2

HA2: Helicase associated domain (HA2) (851 - 939)

OB_NTP_bind

OB_NTP_bind: Oligonucleotide/oligosaccharide-binding (OB)-fold (1007 - 1102)

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  • 1194 a.a.
Protein Preferred Names Protein Names

ATP-dependent RNA helicase DHX30

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30

DHX30 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
DHX30 Q7L2E3 CFTR Homo sapiens P13569
Ub Reconstruction
35156780
Intra
DHX30 Q7L2E3 H1-5 Homo sapiens P16401
Crosslink
30021884
Intra
DHX30 Q7L2E3 OAS3 Homo sapiens Q9Y6K5
Anti Tag CoIP
21903422
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language

NEDMIAL
Oculomotor Apraxia
Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Peroxisome Biogenesis Disorder 2a

PBD2A

Peroxisome Biogenesis Disorder Complementation Group 2

PBD-CG2

Cg1

Pbd-Cge

Peroxisome Biogenesis Disorder Complementation Group E

Peroxisome Biogenesis Disorder, Type 2a
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay

CLIFAHDD

Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome

Clifahdd Syndrome

Doid:0081048

Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay
Syndromic X-Linked Intellectual Disability Turner Type

Mental Retardation, X-Linked Syndromic, Turner Type

Intellectual Disability, X-Linked Syndromic, Turner Type

Brooks-Wisniewski-Brown Syndrome

Mental Retardation And Macrocephaly Syndrome

Mrxst

X-Linked Intellectual Disability, Brooks Type

Mental Retardation, X-Linked, Syndromic, Turner Type
Hyperinsulinemic Hypoglycemia, Familial, 4

Hyperinsulinism Due To Glutamodehydrogenase Deficiency

HHF4

Familial Hyperinsulinemic Hypoglycemia 4

Hyperinsulinemic Hypoglycemia Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Hyperinsulinism Due To Schad Deficiency

Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Congenital Hyperinsulinism

Schad Deficiency

Persistent Hyperinsulinemic Hypoglycemia Of Infancy

Phhi

3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Brugada Syndrome 5

BRGDA5

Cardiac Conduction Defect, Nonspecific

Brugada Syndrome, Type 5
Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03751 DHX30 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus DHX30 VGNC VGNC:28051
Macaca mulatta DHX30 VGNC VGNC:71632
Felis catus DHX30 VGNC VGNC:61477
Rattus norvegicus DHX30 RGD RGD:1308888
Mus musculus DHX30 MGD MGI:1920081
Canis familiaris DHX30 VGNC VGNC:39942