Sash3 SAM and SH3 domain containing 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sash3provided by MGI
Official Full Name: SAM and SH3 domain containing 3provided by MGI
Primary source: MGI:MGI:1921381
See related: Ensembl:ENSMUSG00000031101 AllianceGenome:MGI:1921381
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: SLY1; 1200013B08Rik
Summary: Acts upstream of or within several processes, including positive regulation of gene expression; positive regulation of lymphocyte activation; and positive regulation of organ growth. Located in cytoplasm and nucleus. Is expressed in heart ventricle and thymus primordium. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human SASH3 (SAM and SH3 domain containing 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in thymus adult (RPKM 104.2), spleen adult (RPKM 50.8) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A4; X 25.54 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (47235313..47250442)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (48146436..48161565)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Knockout of SLy1 decreases double-negative thymocyte proliferation and protects mice from p53-induced tumor formation.
Title: Knockout of SLy1 decreases double-negative thymocyte proliferation and protects mice from p53-induced tumor formation.
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Title: SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
In this report, the structure of the SLy1 SAM domain was solved and revealed that this SAM domain forms a symmetric homodimer through a novel interface. The interface consists primarily of the two long C-terminal helices, alpha5 and alpha5', of the domains packing against each other.
Title: Structure of the SLy1 SAM homodimer reveals a new interface for SAM domain self-association.
We also carried out transgene rescue by adding Sly1/2 transgenes to mice with NPYq deletions. We demonstrated that SLY1/2 expression in mutant mice decreased proportionally to deletion size, with ~12% of SLY1/2 retained in shSLY sh367 testes.
Title: Rescue of Sly Expression Is Not Sufficient to Rescue Spermiogenic Phenotype of Mice with Deletions of Y Chromosome Long Arm.
this study describes SLy1 as an immunoregulatory protein, which is involved in the generation of adaptive immune responses during L. monocytogenes infection, and provides a model of how SLy1 regulates T-cell proliferation.
Title: SLy1 regulates T-cell proliferation during Listeria monocytogenes infection in a Foxo1-dependent manner.
anti-apoptotic protein required for T cell differentiation to the CD4+CD8+ stage, likely to be involved in mTOR complex activation
Title: The orphan adapter protein SLY1 as a novel anti-apoptotic protein required for thymocyte development.
expression of the Notch signaling mediator RBP-J and the Notch target genes Hes-1 and Hes-5 was markedly reduced in MZ but not FO B cells of Sly1(d/d) mice.
Title: Reduced notch activity is associated with an impaired marginal zone B cell development and function in Sly1 mutant mice.
Sly1 is an essential molecular component for the full activation of adaptive immunity
Title: Impaired immune responses and prolonged allograft survival in Sly1 mutant mice.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (1) 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

Process	Evidence Code	Pubs
acts_upstream_of_or_within B cell homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of CD4-positive, alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of T cell cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells within a tissue	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of interleukin-10 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of interleukin-2 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of interleukin-4 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of B cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of CD4-positive, alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of T cell cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of adaptive immune response	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of adaptive immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of immunoglobulin production	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of immunoglobulin production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of interleukin-10 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of interleukin-2 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of interleukin-4 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of lymphocyte activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: SAM and SH3 domain-containing protein 3

Names: Novel SH3 and SAM domain containing protein; SH3 protein expressed in lymphocytes

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_001313749.1 → NP_001300678.1 SAM and SH3 domain-containing protein 3 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK004734, BC028773, BY204396, BY209546

UniProtKB/Swiss-Prot

Q8K352

Conserved Domains (3) summary

cd11968
Location:176 → 231

SH3_SASH3; Src homology 3 domain of Sam And SH3 Domain Containing Protein 3

pfam12485
Location:21 → 174

SLY; Lymphocyte signaling adaptor protein

cl15755
Location:250 → 317

SAM_superfamily; SAM (Sterile alpha motif )
NM_028773.4 → NP_083049.1 SAM and SH3 domain-containing protein 3 isoform 2

See identical proteins and their annotated locations for NP_083049.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK004734, BC028773, BY204396, BY209546

Consensus CDS

CCDS40959.1

UniProtKB/Swiss-Prot

Q3TBX0, Q8K352, Q9DBV2

Related

ENSMUSP00000033427.7, ENSMUST00000033427.7

Conserved Domains (3) summary

cd11968
Location:176 → 231

SH3_SASH3; Src homology 3 domain of Sam And SH3 Domain Containing Protein 3

pfam12485
Location:21 → 174

SLY; Lymphocyte signaling adaptor protein

cl15755
Location:250 → 317

SAM_superfamily; SAM (Sterile alpha motif )