| GEMIN4 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | GEMIN4 , HC56, HCAP1, HHRF-1, p97, gem nuclear organelle associated protein 4, NEDMCR | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606969 MGI: 2449313 HomoloGene: 69193 GeneCards: GEMIN4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Gem-associated protein 4 is a protein that in humans is encoded by the GEMIN4 gene. [5] [6]
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. [6]
GEMIN4 has been shown to interact with:
snRNPs, or small nuclear ribonucleoproteins, are RNA-protein complexes that combine with unmodified pre-mRNA and various other proteins to form a spliceosome, a large RNA-protein molecular complex upon which splicing of pre-mRNA occurs. The action of snRNPs is essential to the removal of introns from pre-mRNA, a critical aspect of post-transcriptional modification of RNA, occurring only in the nucleus of eukaryotic cells. Additionally, U7 snRNP is not involved in splicing at all, as U7 snRNP is responsible for processing the 3′ stem-loop of histone pre-mRNA.
Gideon Dreyfuss is an American biochemist who is the Isaac Norris Professor of Biochemistry and Biophysics at the University of Pennsylvania School of Medicine and an investigator of the Howard Hughes Medical Institute. He was elected to the National Academy of Sciences in 2012.
Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes.
rRNA 2'-O-methyltransferase fibrillarin is an enzyme that in humans is encoded by the FBL gene.
Small nuclear ribonucleoprotein Sm D1 is a protein that in humans is encoded by the SNRPD1 gene.
Small nuclear ribonucleoprotein-associated proteins B and B' is a protein that in humans is encoded by the SNRPB gene.
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.
Small nuclear ribonucleoprotein E is a protein that in humans is encoded by the SNRPE gene.
Small nuclear ribonucleoprotein Sm D3 is a protein that in humans is encoded by the SNRPD3 gene.
Gem-associated protein 2 (GEMIN2), also called survival of motor neuron protein-interacting protein 1 (SIP1), is a protein that in humans is encoded by the GEMIN2 gene.
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.
Small nuclear ribonucleoprotein F is a protein that in humans is encoded by the SNRPF gene.
U2 small nuclear ribonucleoprotein B is a protein that in humans is encoded by the SNRPB2 gene.
Small nuclear ribonucleoprotein G is a protein that in humans is encoded by the SNRPG gene.
H/ACA ribonucleoprotein complex subunit 1 is a protein that in humans is encoded by the GAR1 gene.
U1 small nuclear ribonucleoprotein C is a protein that in humans is encoded by the SNRPC gene.
Gem-associated protein 7 is a protein that in humans is encoded by the GEMIN7 gene. The gem-associated proteins are those found in the gems of Cajal bodies.
Gem-associated protein 6 is a protein that in humans is encoded by the GEMIN6 gene. The gem-associated proteins are those found in the gems of Cajal bodies.
Gem-associated protein 5 is a protein that in humans is encoded by the GEMIN5 gene.
Gem-associated protein 8 (Gemin-8) is a protein that in humans is encoded by the GEMIN8 gene.
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