DDX41

DDX41
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2P6N
Identifiers
Aliases	DDX41, ABS, MPLPF, DEAD-box helicase 41
External IDs	OMIM: 608170 MGI: 1920185 HomoloGene: 9431 GeneCards: DDX41
Gene location (Human)
Chr.	Chromosome 5 (human)[1]
End	177,516,961 bp[1]
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)[2]
End	55,684,471 bp[2]
RNA expression pattern
	Top expressed in
	sural nerve; ; stromal cell of endometrium; ; prefrontal cortex; ; nucleus accumbens; ; monocyte; ; caudate nucleus; ; putamen; ; amygdala; ; skin of abdomen; ; ganglionic eminence;
	Top expressed in
	primitive streak; ; proximal tubule; ; spermatocyte; ; islet of Langerhans; ; yolk sac; ; neural tube; ; renal corpuscle; ; superior frontal gyrus; ; medullary collecting duct; ; morula;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; nucleotide binding; helicase activity; metal ion binding; protein binding; nucleic acid binding; hydrolase activity; ATP binding; RNA binding;
Cellular component	cytosol; catalytic step 2 spliceosome; membrane; endoplasmic reticulum; nucleus; spliceosomal complex; nucleolus; cytoplasm;
Biological process	cellular response to interferon-beta; mRNA processing; regulation of type I interferon production; defense response to virus; RNA secondary structure unwinding; RNA splicing; positive regulation of type I interferon production; positive regulation of transcription by RNA polymerase II; apoptotic process; mRNA splicing, via spliceosome; cell population proliferation; cell differentiation;
	Sources:Amigo / QuickGO
Orthologs
	51428
	72935
	ENSG00000183258
	ENSMUSG00000021494
	Q9UJV9
	Q91VN6
	NM_016222; NM_001321732; NM_001321830
	NM_134059
	NP_001308661; NP_001308759; NP_057306
	NP_598820
	Wikidata
View/Edit Human	View/Edit Mouse

Probable ATP-dependent RNA helicase DDX41 is an enzyme that in humans is encoded by the DDX41 gene.[5][6]

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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression.[6] Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.[7]

References

GRCh38: Ensembl release 89: ENSG00000183258 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000021494 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Irion U, Leptin M (December 1999). "Developmental and cell biological functions of the Drosophila DEAD-box protein abstrakt". Current Biology. 9 (23): 1373–1381. doi:10.1016/S0960-9822(00)80082-2. PMID 10607561. S2CID 16448276.
"Entrez Gene: DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41".
Makishima H, Saiki R, Nannya Y, Korotev S, Gurnari C, Takeda J, et al. (February 2023). "Germ line DDX41 mutations define a unique subtype of myeloid neoplasms". Blood, the Journal of the American Society of Hematology. 141 (5): 534–549. doi:10.1182/blood.2022018221. PMID 36322930. S2CID 253266118.

Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ (April 2002). "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis". RNA. 8 (4): 426–439. doi:10.1017/S1355838202021088. PMC 1370266. PMID 11991638.
Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (January 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
Abdul-Ghani M, Hartman KL, Ngsee JK (July 2005). "Abstrakt interacts with and regulates the expression of sorting nexin-2". Journal of Cellular Physiology. 204 (1): 210–218. doi:10.1002/jcp.20285. PMC 2963638. PMID 15690390.
Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (April 2006). "Phosphoproteome analysis of the human mitotic spindle". Proceedings of the National Academy of Sciences of the United States of America. 103 (14): 5391–5396. Bibcode:2006PNAS..103.5391N. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000183258 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021494 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10607561-5] Irion U, Leptin M (December 1999). "Developmental and cell biological functions of the Drosophila DEAD-box protein abstrakt". Current Biology. 9 (23): 1373–1381. doi:10.1016/S0960-9822(00)80082-2. PMID 10607561. S2CID 16448276.

[entrez-6] "Entrez Gene: DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41".

[7] Makishima H, Saiki R, Nannya Y, Korotev S, Gurnari C, Takeda J, et al. (February 2023). "Germ line DDX41 mutations define a unique subtype of myeloid neoplasms". Blood, the Journal of the American Society of Hematology. 141 (5): 534–549. doi:10.1182/blood.2022018221. PMID 36322930. S2CID 253266118.

DDX41

References

Further reading