Set SET nuclear oncogene [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Setprovided by MGI
Official Full Name: SET nuclear oncogeneprovided by MGI
Primary source: MGI:MGI:1860267
See related: Ensembl:ENSMUSG00000054766 AllianceGenome:MGI:1860267
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: TAF-I; I-2PP2A; StF-IT-1; 2610030F17Rik; 5730420M11Rik
Summary: Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within negative regulation of neuron apoptotic process. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; sensory organ; skin; and tooth. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability. Orthologous to human SET (SET nuclear proto-oncogene). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 163.2), CNS E14 (RPKM 62.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 21.09 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (29952074..29962589)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (30061996..30072577)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SET improved oocyte maturation by serine/threonine protein phosphatase 2A and inhibited oocyte apoptosis in mouse oocytes.
Title: SET improved oocyte maturation by serine/threonine protein phosphatase 2A and inhibited oocyte apoptosis in mouse oocytes.
Embryonic Stem Cell Differentiation Is Regulated by SET through Interactions with p53 and beta-Catenin.
Title: Embryonic Stem Cell Differentiation Is Regulated by SET through Interactions with p53 and β-Catenin.
The data underscore the importance of SET oncoprotein during embryonic development and reveal both of the p53-dependent and the p53-independent functions of SET in vivo.
Title: Loss of SET reveals both the p53-dependent and the p53-independent functions in vivo.
co-immunofluorescent staining of mouse gastrointestinal tissues revealed that even though the positive rate is much lower than epithelial cells, SET protein is also expressed in non-epithelial cells, such as monocytes/macrophages, neural cells, myofibroblasts, and smooth muscle cells. Results indicate an extensive role of SET in a variety of cell types.
Title: Distribution of SET/I2PP2A protein in gastrointestinal tissues.
Molecular chaperone SET-assisted eviction of linker histones and Shugoshins is a fundamental step in mammalian mitotic progression.
Title: Phospho-H1 Decorates the Inter-chromatid Axis and Is Evicted along with Shugoshin by SET during Mitosis.
Presence of SET in the cytoplasm in Down Syndrome brains may play a role in the progression of the disease.
Title: Increases of SET level and translocation are correlated with tau hyperphosphorylation at ser202/thr205 in CA1 of Ts65Dn mice.
Data suggest a critical role for the I2PP2A protein (SET)-protein phosphatase-2A (PP2A) signaling axis in Pten protein (Pten) deficient castration resistant prostate cancer (CRPC) progression.
Title: Inhibition of Pten deficient Castration Resistant Prostate Cancer by Targeting of the SET - PP2A Signaling axis.
SET protein was expressed in spermatogonia and spermatocytes; the highest level was mainly in haploid and tetraploid cells of the prepubertal and adult groups, and Leydig cells of the adult and ageing groups. There was a low expression in Sertoli cells.
Title: Expression of the SET protein in testes of mice at different developmental stages.
The presence of full-length SET in the neuronal cytoplasm is sufficient to impair PP2A methylation and activity, leading to tau hyperphosphorylation.
Title: Cytoplasmic SET induces tau hyperphosphorylation through a decrease of methylated phosphatase 2A.
SET/PP2A system regulates testosterone production in ovarian follicles in vitro.
Title: SET/PP2A system regulates androgen production in ovarian follicles in vitro.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in nucleosome assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein SET

Names: SET translocation; phosphatase 2A inhibitor I2PP2A; template-activating factor I

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001204875.2 → NP_001191804.1 protein SET isoform 2

See identical proteins and their annotated locations for NP_001191804.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) encodes the shorter isoform (2; also known as isoform beta).

Source sequence(s)

BX005298

Consensus CDS

CCDS57162.1

UniProtKB/Swiss-Prot

Q9EQU5

Related

ENSMUSP00000070002.7, ENSMUST00000067996.7

Conserved Domains (1) summary

pfam00956
Location:32 → 221

NAP; Nucleosome assembly protein (NAP)
NM_023871.5 → NP_076360.1 protein SET isoform 1

See identical proteins and their annotated locations for NP_076360.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1; also known as isoform alpha).

Source sequence(s)

BX005298

Consensus CDS

CCDS15866.1

UniProtKB/Swiss-Prot

A2BE95, Q9CY82, Q9D0A9, Q9EQU5, Q9Z181

UniProtKB/TrEMBL

Q3T9S3, Q5U445

Related

ENSMUSP00000099930.4, ENSMUST00000102866.10

Conserved Domains (1) summary

pfam00956
Location:49 → 233

NAP; Nucleosome assembly protein (NAP)