| SYMPK | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SYMPK , SPK, SYM, symplekin, Pta1, symplekin scaffold protein | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602388 MGI: 1915438 HomoloGene: 37969 GeneCards: SYMPK | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Symplekin is a protein that in humans is encoded by the SYMPK gene. [5] [6]
This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [6]
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Abnormal |
| Recessive lethal study | Abnormal |
| Fertility | Normal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal [7] |
| Citrobacter infection | Normal [8] |
| All tests and analysis from [9] [10] |
Model organisms have been used in the study of SYMPK function. A conditional knockout mouse line, called Sympktm1a(EUCOMM)Wtsi [11] [12] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. [13] [14] [15]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [9] [16] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed. [9] No homozygous mutant embryos were identified during gestation, and thus none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals. [9]
SYMPK has been shown to interact with CSTF2, [17] HSF1 [18] and Oct4 [19]
Polyadenylation is the addition of a poly(A) tail to an RNA transcript, typically a messenger RNA (mRNA). The poly(A) tail consists of multiple adenosine monophosphates; in other words, it is a stretch of RNA that has only adenine bases. In eukaryotes, polyadenylation is part of the process that produces mature mRNA for translation. In many bacteria, the poly(A) tail promotes degradation of the mRNA. It, therefore, forms part of the larger process of gene expression.
Heat shock factor 1 (HSF1) is a protein that in humans is encoded by the HSF1 gene. HSF1 is highly conserved in eukaryotes and is the primary mediator of transcriptional responses to proteotoxic stress with important roles in non-stress regulation such as development and metabolism.
Cleavage stimulation factor 64 kDa subunit is a protein that in humans is encoded by the CSTF2 gene.
Cleavage and polyadenylation specificity factor subunit 5 (CPSF5) is an enzyme that in humans is encoded by the NUDT21 gene. It belongs to the Nudix family of hydrolases.
Heat shock factor protein 2 is a protein that in humans is encoded by the HSF2 gene.
Cleavage and polyadenylation specificity factor subunit 2 is a protein that in humans is encoded by the CPSF2 gene. This protein is a subunit of the cleavage and polyadenylation specificity factor (CPSF) complex which plays a key role in pre-mRNA 3' end processing and polyadenylation. The CPSF2 protein connects the two subunits of the complex, mCF and mPSF. Its structure contributes both to the stability of the subunits interaction and to the flexibility of the complex necessary for function. This protein has been identified as an essential subunit of the complex as certain mutations in the region inhibit CPSF complex formation.
Cleavage and polyadenylation specificity factor subunit 1 is a protein that in humans is encoded by the CPSF1 gene.
Polyadenylate-binding protein 4 (PABPC4) is a protein that in humans is encoded by the PABPC4 gene.
Poly(A) polymerase alpha is an enzyme that in humans is encoded by the PAPOLA gene.
Cleavage stimulation factor 50 kDa subunit is a protein that in humans is encoded by the CSTF1 gene.
Cleavage stimulation factor 77 kDa subunit is a protein that in humans is encoded by the CSTF3 gene.
Cleavage stimulation factor 64 kDa subunit, tau variant is a protein that in humans is encoded by the CSTF2T gene.
Cleavage and polyadenylation specificity factor subunit 3 is a protein that in humans is encoded by the CPSF3 gene.
Cadherin-15 is a protein that in humans is encoded by the CDH15 gene.
Cleavage and polyadenylation specificity factor subunit 4 is a protein that in humans is encoded by the CPSF4 gene.
Cleavage and polyadenylation specificity factor subunit 6 is a protein that in humans is encoded by the CPSF6 gene.
Tetraspanin-8 is a protein that in humans is encoded by the TSPAN8 gene.
Cytoplasmic polyadenylation element-binding protein 1 is a protein that in humans is encoded by the CPEB1 gene.
RNA polymerase II associated protein 2, also known as RPAP2, is a human gene.
ARMH3 or Armadillo Like Helical Domain Containing 3, also known as UPF0668 and c10orf76, is a protein that in humans is encoded by the ARMH3 gene. Its function is not currently known, but experimental evidence has suggested that it may be involved in transcriptional regulation. The protein contains a conserved proline-rich motif, suggesting that it may participate in protein-protein interactions via an SH3-binding domain, although no such interactions have been experimentally verified. The well-conserved gene appears to have emerged in Fungi approximately 1.2 billion years ago. The locus is alternatively spliced and predicted to yield five protein variants, three of which contain a protein domain of unknown function, DUF1741.
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