Setbp1 SET binding protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Setbp1provided by MGI
Official Full Name: SET binding protein 1provided by MGI
Primary source: MGI:MGI:1933199
See related: Ensembl:ENSMUSG00000024548 AllianceGenome:MGI:1933199
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: Seb; mKIAA0437; C130092E12
Summary: Predicted to enable histone H3K4 methyltransferase activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in cytosol and nuclear body. Predicted to be active in nucleoplasm. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in Schinzel Giedion syndrome and autosomal dominant intellectual developmental disorder 29. Orthologous to human SETBP1 (SET binding protein 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in CNS E14 (RPKM 9.2), whole brain E14.5 (RPKM 8.3) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 E3; 18 52.67 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (78793593..79153659, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (78750378..79110444, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

SETBP1 is dispensable for normal and malignant hematopoiesis.
Title: SETBP1 is dispensable for normal and malignant hematopoiesis.
myeloid transformation requires the interaction of XPO1 with SETBP1
Title: Interaction with XPO1 is essential for SETBP1 to induce myeloid transformation.
Myb knockdown in Setbp1 and Setbp1 missense mutations-induced AML cells also efficiently induced their differentiation in culture and significantly prolonged the survival of their secondary recipient mice.
Title: Myb expression is critical for myeloid leukemia development induced by Setbp1 activation.
We demonstrated that Nup98-TopIIbeta and Nup98-SETBP1 negatively regulate the XPO1-mediated protein export. Our results will contribute to the understanding of the molecular mechanism by which the Nup98-fusion proteins induce tumorigenesis.
Title: Function of Nup98 subtypes and their fusion proteins, Nup98-TopIIβ and Nup98-SETBP1 in nuclear-cytoplasmic transport.
Setbp1 overexpression also causes transcriptional repression of critical hematopoiesis regulator gene Runx1
Title: Runx1 repression by histone deacetylation is critical for Setbp1-induced mouse myeloid leukemia development.
Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10.
Title: Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D18Mit46 (e-PCR), detects polymorphism
- UniSTS:128267

MDB0659 (e-PCR)
- UniSTS:125031

MHAa78b10.seq (e-PCR)
- UniSTS:125317

D18Mit126 (e-PCR), detects polymorphism
- UniSTS:128146

Setbp1 (e-PCR), detects polymorphism
- UniSTS:527535

AU022049 (e-PCR)
- UniSTS:209403

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables histone H3K4 methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nuclear body	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: SET-binding protein

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.