1. Gene
  2. DDX50 - DExD-box helicase 50 Gene

DDX50 - DExD-box helicase 50 Gene

Homo sapiens

Also known as GU2; GUB; mcdrh; RH-II/GuB

Gene ID: 79009 | Gene type: protein coding

About DDX50

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:68,901,315-68,946,847 (from NCBI)

This gene has 5 transcripts (splice variants), 92 orthologues and 38 paralogues. Ubiquitous expression in testis (RPKM 10.4), thyroid (RPKM 9.2) 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. This gene encodes a DEAD box Enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]

DDX50 Products(1)

mRNA Protein Name
NM_024045.2 NP_076950.1 ATP-dependent RNA helicase DDX50

DDX50 Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (162 - 335)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (414 - 483)

GUCT

GUCT: GUCT (NUC152) domain (571 - 666)

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  • 737 a.a.
Protein Preferred Names Protein Names

ATP-dependent RNA helicase DDX50

DEAD (Asp-Glu-Ala-Asp) box polypeptide 50

Related Diseases

Diseases Alias
Immunodeficiency 51

IMD51

Candf5

Candidiasis, Familial, 5

Candidiasis, Familial, 5, Formerly

Candf5, Formerly

Familial Candidiasis 5

Candidiasis Familial 5 Autosomal Recessive

Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive

Chronic Mucocutaneous Candidiasis 5

Locked-In Syndrome

Locked In Syndrome

Cerebromedullospinal Disconnection

Locked-In State

Quadriplegia

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
Macaca mulatta DDX50 VGNC VGNC:103808
Felis catus DDX50 VGNC VGNC:61412
Rattus norvegicus DDX50 RGD RGD:1310934
Bos taurus DDX50 VGNC VGNC:27973
Mus musculus DDX50 MGD MGI:2182303
Canis familiaris DDX50 VGNC VGNC:39863