DDX23 - DEAD-box helicase 23 Gene

Homo sapiens

Also known as prp28; PRPF28; U5-100K; SNRNP100; U5-100KD

Gene ID: 9416 | Gene type: protein coding

About DDX23

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:48,829,756-48,852,163 (from NCBI)

This gene has 23 transcripts (splice variants), 209 orthologues, 38 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 26.9), appendix (RPKM 25.8) and 25 other tissues.

Summary

This gene encodes a member of the DEAD box protein family. 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. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

DDX23 Products(1)

mRNA	Protein	Name
NM_004818.3	NP_004809.2	probable ATP-dependent RNA helicase DDX23

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables helicase activity	IDA IDA: Inferred from direct assay	9539711	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9774689	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in R-loop processing	IDA IDA: Inferred from direct assay	28076779	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of U4/U6 x U5 tri-snRNP complex	IDA IDA: Inferred from direct assay	9409622	GOA
part of U4/U6 x U5 tri-snRNP complex	IPI IPI: Inferred from physical interaction	30975767	GOA
part of U5 snRNP	IDA IDA: Inferred from direct assay	9539711	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in chromatin	IDA IDA: Inferred from direct assay	28076779	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28076779	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

DDX23 Protein Structure

DEAD

Helicase_C

0
200
400
600
820 a.a.

Protein Preferred Names

Protein Names

probable ATP-dependent RNA helicase DDX23

100 kDa U5 snRNP-specific protein

Related Diseases

Diseases

Alias

Gnathomiasis

Gnathostomiasis	Infectious Disease By Gnathostoma
Gnathostomosis	Wandering Swelling

Elephantiasis

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii	Distal Hereditary Motor Neuropathy Type 2
Distal Hereditary Motor Neuropathy Type Ii	Hmn Ii
Hmn2	Distal Hereditary Motor Neuronopathy, Type Ii
Distal Spinal Muscular Atrophy Type 2	Dhmn2
Dsma2	Neuropathy, Motor, Distal, Hereditary, Type Ii
Spinal Muscular Atrophy, Jerash Type

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 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-RS03638	DDX23 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DDX23	VGNC	VGNC:61401
Macaca mulatta	DDX23	VGNC	VGNC:71644
Rattus norvegicus	DDX23	RGD	RGD:1308685
Bos taurus	DDX23	VGNC	VGNC:27959
Mus musculus	DDX23	MGD	MGI:1921601
Canis familiaris	DDX23	VGNC	VGNC:39850

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