DHX38 - DEAH-box helicase 38 Gene

Also Known as RP84; DDX38; PRP16; PRPF16

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9785

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
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
21044950 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in mRNA splicing, via spliceosome IDA
IDA: Inferred from direct assay
9524131 GOA
Cellular Component GO Annotation Evidence Verweise 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

DEAD: DEAD/DEAH box helicase (536 - 690)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (770 - 861)

HA2

HA2: Helicase associated domain (HA2) (923 - 1012)

OB_NTP_bind

OB_NTP_bind: Oligonucleotide/oligosaccharide-binding (OB)-fold (1047 - 1147)

  • 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

DHX38 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
DHX38 Q92620 NUDCD1 Homo sapiens Q96RS6 25036637
Intra
DHX38 Q92620 NUDCD1 Homo sapiens Q96RS6 33961781
Intra
DHX38 Q92620 DHX16 Homo sapiens O60231 22365833
Intra
DHX38 Q92620 DHX16 Homo sapiens O60231
Y2H
22365833
Intra
DHX38 Q92620 RBM10 Homo sapiens P98175 22365833
Intra
DHX38 Q92620 RBM10 Homo sapiens P98175
Y2H
22365833
Intra
DHX38 Q92620 GPKOW Homo sapiens Q92917
Y2H
22365833
Intra
DHX38 Q92620 TERF2IP Homo sapiens Q9NYB0 21044950
Intra
DHX38 Q92620 TERF2IP Homo sapiens Q9NYB0 21044950
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others DHX38 NCBI