DDX19B - DEAD-box helicase 19B Gene

Homo sapiens

Also known as DBP5; RNAh; DDX19

Gene ID: 11269 | Gene type: protein coding

About DDX19B

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:70,289,767-70,335,305 (from NCBI)

This gene has 16 transcripts (splice variants), 269 orthologues and 38 paralogues. Ubiquitous expression in testis (RPKM 16.5), thyroid (RPKM 10.7) 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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DDX19B Products(8)

mRNA	Protein	Name
NM_001014449.3	NP_001014449.1	ATP-dependent RNA helicase DDX19B isoform 3
NM_001014451.3	NP_001014451.1	ATP-dependent RNA helicase DDX19B isoform 2
NM_001257172.2	NP_001244101.1	ATP-dependent RNA helicase DDX19B isoform 4
NM_001257173.2	NP_001244102.1	ATP-dependent RNA helicase DDX19B isoform 3
NM_001257174.2	NP_001244103.1	ATP-dependent RNA helicase DDX19B isoform 3
NM_001257175.2	NP_001244104.1	ATP-dependent RNA helicase DDX19B isoform 5
NM_001363938.1	NP_001350867.1	ATP-dependent RNA helicase DDX19B isoform 6
NM_007242.7	NP_009173.1	ATP-dependent RNA helicase DDX19B isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19208808	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

DDX19B Protein Structure

DEAD

Helicase_C

0
100
200
300
400
479 a.a.

Protein Preferred Names

Protein Names

ATP-dependent RNA helicase DDX19B

ATP-dependent RNA helicase DDX19

Related Diseases

Diseases

Alias

Lethal Congenital Contracture Syndrome 1

LCCS1	Multiple Contracture Syndrome, Finnish Type
Lccs	Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures
Lethal Congenital Contracture Syndrome Type 1	Herva Disease
Multiple Contracture Syndrome Finnish Type	Contracture Syndrome, Lethal, Congenital, Type 1

Anterior Horn Cell Disease

Lethal Congenital Contracture Syndrome

Lccs	Lethal Congenital Contracture Syndrome 1

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2

Aoa2	Ataxia With Oculomotor Apraxia Type 2
Scar1	SCAN2
Ataxia-Oculomotor Apraxia 2	Ataxia-Ocular Apraxia 2
Ataxia-Oculomotor Apraxia Type 2	Scan 2
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly
Scar1, Formerly	Autosomal Recessive Spinocerebellar Ataxia-1
Spinocerebellar Ataxia, Autosomal Recessive, 1	Ataxia-Ocular Apraxia-2
Spinocerebellar Ataxia, Autosomal Recessive 1

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-RS03635	DDX19B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DDX19B	MGD	MGI:2148251
Rattus norvegicus	DDX19B	RGD	RGD:1593382

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