Samsn1 SAM domain, SH3 domain and nuclear localization signals, 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Samsn1provided by MGI
Official Full Name: SAM domain, SH3 domain and nuclear localization signals, 1provided by MGI
Primary source: MGI:MGI:1914992
See related: Ensembl:ENSMUSG00000022876 AllianceGenome:MGI:1914992
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SLy2; Hacs1; 930571B16Rik; 4930571B16Rik
Summary: Predicted to enable phosphotyrosine residue binding activity. Involved in negative regulation of B cell activation; negative regulation of adaptive immune response; and negative regulation of peptidyl-tyrosine phosphorylation. Located in cytosol and nucleus. Is expressed in several structures, including cardiovascular system; embryo mesenchyme; nervous system; sensory organ; and surface ectoderm. Orthologous to human SAMSN1 (SAM domain, SH3 domain and nuclear localization signals 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in liver E14 (RPKM 5.1), liver E18 (RPKM 4.8) and 18 other tissues See more
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Genomic context

Location:: 16 C3.1; 16 43.36 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (75655682..75706154, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (75858794..75909266, complement)

Chromosome 16 - NC_000082.7 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?

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 is the first study to identify deletion of a key gene in the C57BL/KaLwRij mice that also displays reduced gene expression in patients with MM and is therefore likely to play an integral role in MM disease development.
Title: SAMSN1 is a tumor suppressor gene in multiple myeloma.
SLy2 controls the antibody response to pneumococcal vaccine through an IL-5Ralpha-dependent mechanism in B-1 cells.
Title: SLy2 controls the antibody response to pneumococcal vaccine through an IL-5Rα-dependent mechanism in B-1 cells.
the immunoinhibitory roles of SLy2 in vivo and suggest that the physiological up-regulation of SLy2 observed upon B cell activation functions to counteract excessive B cell spreading.
Title: Immunoinhibitory adapter protein Src homology domain 3 lymphocyte protein 2 (SLy2) regulates actin dynamics and B cell spreading.
This study suggests that Hacs1 is an immunoinhibitory adaptor that might be a useful target for immune suppression therapy.
Title: Enhanced adaptive immunity in mice lacking the immunoinhibitory adaptor Hacs1.

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Variation

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Alleles

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

Endonuclease-mediated (6)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Samsn1 (e-PCR), detects polymorphism
- UniSTS:259139

Samsn1 (e-PCR), detects polymorphism
- UniSTS:259654

px-56c9 (e-PCR)
- UniSTS:257932

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phosphotyrosine residue binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphotyrosine residue binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of B cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of B cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of adaptive immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of peptidyl-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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Preferred Names: SAM domain-containing protein SAMSN-1

Names: SAM domain, SH3 domain and nuclear localisation signals, 1; SAM domain, SH3 domain and nuclear localization signals protein 1; SH3 protein expressed in lymphocytes 2; SH3-lymphocyte protein 2

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_023380.2 → NP_075869.2 SAM domain-containing protein SAMSN-1

See identical proteins and their annotated locations for NP_075869.2

Status: PROVISIONAL

Source sequence(s)

DQ333189

Consensus CDS

CCDS37378.1

UniProtKB/Swiss-Prot

P57725, Q2LE09, Q5RKU0, Q6P210, Q8C6S2

Related

ENSMUSP00000109877.3, ENSMUST00000114239.9

Conserved Domains (4) summary

cd09561
Location:239 → 304

SAM_SAMSN1; SAM domain of SAMSN1 subfamily

smart00454
Location:245 → 304

SAM; Sterile alpha motif

pfam12485
Location:17 → 164

SLY; Lymphocyte signaling adaptor protein

cl17036
Location:167 → 218

SH3; Src Homology 3 domain superfamily