DHX38 - DEAH-box helicase 38 Gene

Homo sapiens

Also known as RP84; DDX38; PRP16; PRPF16

Gene ID: 9785 | Gene type: protein coding

About DHX38

Cytogenetic location: 16q22.2 Genomic coordinates (GRCh38): 16:72,093,847-72,112,912 (from NCBI)

This gene has 14 transcripts (splice variants), 206 orthologues, 18 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 15.5), bone marrow (RPKM 15.1) 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. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]

DHX38 Products(1)

mRNA	Protein	Name
NM_014003.4	NP_054722.2	pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	9524131	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	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

DHX38 Protein Structure

DEAD

Helicase_C

HA2

OB_NTP_bind

0
200
400
600
800
1000
1227 a.a.

Protein Preferred Names

Protein Names

pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16

ATP-dependent RNA helicase DHX38

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 84

RP84	Retinitis Pigmentosa, Type 84

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

Cone-Rod Dystrophy 20

CORD20

Dystrophy, Cone-Rod, Type 20

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Night Blindness

Nyctalopia

Bietti Crystalline Corneoretinal Dystrophy

BCD	Bietti Crystalline Dystrophy
Bietti Tapetoretinal Degeneration With Marginal Corneal Dystrophy	Bietti Crystalline Retinopathy
Bietti'S Crystalline Dystrophy	Crystalline Retinopathy
Dystrophy, Corneoretinal, Crystalline, Bietti

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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-RS03757	DHX38 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DHX38	RGD	RGD:1310345
Macaca mulatta	DHX38	VGNC	VGNC:71640
Felis catus	DHX38	VGNC	VGNC:61483
Canis familiaris	DHX38	VGNC	VGNC:39948
Bos taurus	DHX38	VGNC	VGNC:57044
Mus musculus	DHX38	MGD	MGI:1927617

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