DHX30 - DExH-box helicase 30 Gene

Also Known as DDX30; RETCOR; NEDMIAL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22907

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	References	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	References	Source
involved in mitochondrial large ribosomal subunit assembly	IMP IMP: Inferred from mutant phenotype	25683715	GOA

Cellular Component GO Annotation	Evidence	References	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

Helicase_C

HA2

OB_NTP_bind

0
200
400
600
800
1000
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	References
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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03751	DHX30 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21553	Dhx30 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28071	Dhx30 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	DHX30	NCBI