DDX20
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DDX20
Probable ATP-dependent RNA helicase DDX20, also known as DEAD-box helicase 20 and gem-associated protein 3 (GEMIN3), is an enzyme that in humans is encoded by the ''DDX20'' gene. Function 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. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neuron (SMN) complex. SMN is the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. Clinical significance Previous research has revealed that DDX20 m ...
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Survival Of Motor Neuron
Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the ''SMN1'' and ''SMN2'' genes. SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and cellular trafficking. SMN deficiency, primarily due to mutations in ''SMN1'', results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy. Research also showed a possible role of SMN in neuronal migration and/or differentiation. Function The SMN protein contains GEMIN2-binding, Tudor and YG-Box domains. It localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as GEMIN2 and GEMIN4, and also interacts with sev ...
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GEMIN5
Gem-associated protein 5 is a protein that in humans is encoded by the ''GEMIN5'' gene. Function Gem-associated protein 5 is part of the survival of motor neuron protein, SMN a large protein complex localized to both the cytoplasm and the cell nucleus, nucleus that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), gem-associated protein 2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), and GEMIN4 (MIM 606969). Interactions GEMIN5 has been shown to Protein-protein interaction, interact with DDX20 and SMN1. References Further reading

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Small Nuclear Ribonucleoprotein Polypeptide F
Small nuclear ribonucleoprotein F is a protein that in humans is encoded by the ''SNRPF'' gene. Interactions Small nuclear ribonucleoprotein polypeptide F has been shown to interact with DDX20, Small nuclear ribonucleoprotein D2 Small nuclear ribonucleoprotein Sm D2 is a protein that in humans is encoded by the ''SNRPD2'' gene. It belongs to the small nuclear ribonucleoprotein core protein family, and is required for pre-mRNA splicing and small nuclear ribonucleoprotein b ... and Small nuclear ribonucleoprotein polypeptide E. References Further reading

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Small Nuclear Ribonucleoprotein Polypeptide E
Small nuclear ribonucleoprotein E is a protein that in humans is encoded by the ''SNRPE'' gene. Interactions Small nuclear ribonucleoprotein polypeptide E has been shown to interact with DDX20 and Small nuclear ribonucleoprotein polypeptide F Small nuclear ribonucleoprotein F is a protein that in humans is encoded by the ''SNRPF'' gene. Interactions Small nuclear ribonucleoprotein polypeptide F has been shown to interact with DDX20, Small nuclear ribonucleoprotein D2 Small nuclear .... References Further reading

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Small Nuclear Ribonucleoprotein D2
Small nuclear ribonucleoprotein Sm D2 is a protein that in humans is encoded by the ''SNRPD2'' gene. It belongs to the small nuclear ribonucleoprotein core protein family, and is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. Interactions Small nuclear ribonucleoprotein D2 has been shown to interact with DDX20, Small nuclear ribonucleoprotein D1, Small nuclear ribonucleoprotein polypeptide F, CDC5L and SMN1 Survival of motor neuron 1 (''SMN1''), also known as component of gems 1 or ''GEMIN1'', is a gene that encodes the SMN protein in humans. Gene ''SMN1'' is the telomeric copy of the gene encoding the SMN protein; the centromeric copy is term .... References Further reading

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Small Nuclear Ribonucleoprotein D1
Small nuclear ribonucleoprotein Sm D1 is a protein that in humans is encoded by the ''SNRPD1'' gene. Function This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Interactions Small nuclear ribonucleoprotein D1 has been shown to interact with: * CDC5L, * CLNS1A, * DDX20, * SMN1, and * Small nuclear ribonucleoprotein D2 Small nuclear ribonucleoprotein Sm D2 is a protein that in humans is encoded by the ''SNRPD2'' gene. It belongs to the small nuclear ribonucleoprotein core protein family, and is required for pre-mRNA splicing and small nuclear ribonucleoprotein b ... References Further reading

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SNRPG
Small nuclear ribonucleoprotein G is a protein that in humans is encoded by the ''SNRPG'' gene. Interactions SNRPG has been shown to interact with DDX20 and TACC1 Transforming acidic coiled-coil-containing protein 1 is a protein that in humans is encoded by the ''TACC1'' gene. Function The function of this gene has not yet been determined; however, it is speculated that it may represent a breast cancer .... References Further reading * * * * * * * * * * * * * * * * External links

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SNRPD3
Small nuclear ribonucleoprotein Sm D3 is a protein that in humans is encoded by the ''SNRPD3'' gene. Function The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Interactions SNRPD3 has been shown to interact with: * CDC5L, * CLNS1A, * DDX20, and * Protein arginine methyltransferase 5 Protein arginine N-methyltransferase 5 is an enzyme that in humans is encoded by the ''PRMT5'' gene. PRMT5 symmetrically dimethylates H2AR3, H4R3, H3R2, and H3R8 in vivo, all of which are linked to a range of transcriptional regulatory events. PR .... References Further reading

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SNRPB
Small nuclear ribonucleoprotein-associated proteins B and B' is a protein that in humans is encoded by the ''SNRPB'' gene. Function The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. Interactions SNRPB has been shown to interact with DDX20 and Coilin Coilin is a protein that in humans is encoded by the ''COIL'' gene. Coilin got its name from the coiled shape of the Cajal bodies in which it is found. It was first identified using human autoimmune serum. Function Coilin protein is one of the .... References Further ...
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LSM2
U6 snRNA-associated Sm-like protein LSm2 is a protein that in humans is encoded by the ''LSM2'' gene. Function Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing. upplied by OMIMref name="entrez" /> Interactions LSM2 has been shown to interact with DDX20, LSM3, LSM8 and LSM7 U6 snRNA-associated Sm-like protein LSm7 is a protein that in humans is encoded by the ''LSM7'' gene. Function Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 60 .... References Further reading * * * * * * * * * * * * External links

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GEMIN4
Gem-associated protein 4 is a protein that in humans is encoded by the ''GEMIN4'' gene. Function The product of this gene is part of the SMN protein complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. Interactions GEMIN4 has been shown to interact with: * DDX20, * EIF2C2, * LGALS1 and * SMN1 Survival of motor neuron 1 (''SMN1''), also known as component of gems 1 or ''GEMIN1'', is a gene that encodes the SMN protein in humans. Gene ''SMN1'' is the telomeric copy of the gene encoding the SMN protein; the centromeric copy is term .... References ...
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EIF2C2
Protein argonaute-2 is a protein that in humans is encoded by the ''EIF2C2'' gene. This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with Dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Interactions EIF2C2 has been shown to interact with * DDX20, * DICER1, * FMRP, FXR1P, FXR2P, and * TNRC6B Trinucleotide repeat-containing gene 6B protein is a protein that in humans is encoded by the ''TNRC6B'' gene. Interactions TNRC6B has been shown to interact with EIF2C2. It is also known to associate with argonaute proteins and has been shown .... References Further reading * * * * * * * * * * * * * * * * * RNA interference {{gene-8-stub ...
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