Sav1 salvador family WW domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sav1provided by MGI
Official Full Name: salvador family WW domain containing 1provided by MGI
Primary source: MGI:MGI:1927144
See related: Ensembl:ENSMUSG00000021067 AllianceGenome:MGI:1927144
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: Sav; Salv; WW45; Wwp3; Wwp4; 1700040G09Rik
Summary: Predicted to enable identical protein binding activity; protein serine/threonine kinase activator activity; and transcription regulator activator activity. Involved in hippo signaling. Acts upstream of or within several processes, including epithelial cell differentiation; negative regulation of cell population proliferation; and positive regulation of keratinocyte apoptotic process. Predicted to be located in cytoplasm and nucleus. Predicted to be active in cytosol. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Used to study colonic disease and hepatocellular carcinoma. Orthologous to human SAV1 (salvador family WW domain containing protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 18.7), bladder adult (RPKM 17.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C2; 12 28.94 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (70011786..70033864, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (69965009..69988141, complement)

Chromosome 12 - NC_000078.7 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 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?

Loss of SAV1 in Kidney Proximal Tubule Induces Maladaptive Repair after Ischemia and Reperfusion Injury.
Title: Loss of SAV1 in Kidney Proximal Tubule Induces Maladaptive Repair after Ischemia and Reperfusion Injury.
Importance of the filamin A-Sav1 interaction in organ size control: evidence from transgenic mice.
Title: Importance of the filamin A-Sav1 interaction in organ size control: evidence from transgenic mice.
N6-Methyladenosine-modified circSAV1 triggers ferroptosis in COPD through recruiting YTHDF1 to facilitate the translation of IREB2.
Title: N6-Methyladenosine-modified circSAV1 triggers ferroptosis in COPD through recruiting YTHDF1 to facilitate the translation of IREB2.
Hippo has a role in suppressing IRS2/AKT signaling prevents hepatic steatosis and liver cancer in a mouse model
Title: Hippo-mediated suppression of IRS2/AKT signaling prevents hepatic steatosis and liver cancer.
Homozygous knockout of WW45 effectively suppressed Hippo signaling pathway, resulting in cardiomyocyte dedifferentiation and left ventricular dysfunction.
Title: Hippo Deficiency Leads to Cardiac Dysfunction Accompanied by Cardiomyocyte Dedifferentiation During Pressure Overload.
deletion of the Hippo pathway component Salvador (Salv) in mouse hearts with established ischaemic heart failure after myocardial infarction induces a reparative genetic program with increased scar border vascularity, reduced fibrosis, and recovery of pumping function compared with controls
Title: Hippo pathway deficiency reverses systolic heart failure after infarction.
Loss of Sav1 induced Stat3 activation and a senescence-associated secretory phenotype (SASP) that coincided with the development of tubulointerstitial fibrosis.
Title: Sav1 Loss Induces Senescence and Stat3 Activation Coinciding with Tubulointerstitial Fibrosis.
Differentiation of 3T3-L1 cells was augmented by MST2 and SAV1 expression and inhibited by knockdown of MST1/2 or SAV1.
Title: Mammalian ste20-like kinase and SAV1 promote 3T3-L1 adipocyte differentiation by activation of PPARγ.
In this study, they investigated epigenetic characteristics of WW45+/- mice, evaluating time-dependent changes from prior to the onset of tumorigenesis to hepatocarcinoma.
Title: Retrotransposon-specific DNA hypomethylation and two-step loss-of-imprinting during WW45 haploinsufficiency-induced hepatocarcinogenesis.
show that mice with liver-specific ablation of WW45 (a homolog of Drosophila Salvador and adaptor for the Hippo kinase) manifest increased liver size and expansion of hepatic progenitor cells (oval cells) and eventually develop hepatomas.
Title: The Hippo-Salvador pathway restrains hepatic oval cell proliferation, liver size, and liver tumorigenesis.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ppp2r2a (e-PCR), detects polymorphism
- UniSTS:526878

Ppp2r2a (e-PCR), detects polymorphism
- UniSTS:526879

NoName (e-PCR)
- UniSTS:236861

AI414330 (e-PCR)
- UniSTS:180402

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activator activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activator activity	ISO Inferred from Sequence Orthology more info
enables transcription regulator activator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of cardiac muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hippo signaling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within hippo signaling	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hippo signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hippo signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hippo signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intestinal epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of keratinocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within keratinocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cardiac muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of fat cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of keratinocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of stem cell population maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

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

General protein information

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Preferred Names: protein salvador homolog 1

Names: 45 kDa WW domain protein; WW domain-containing protein 3; WW domain-containing protein 4; salvador homolog 1

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_001417786.1 → NP_001404715.1 protein salvador homolog 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC166827
NM_001417788.1 → NP_001404717.1 protein salvador homolog 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC166827
NM_022028.3 → NP_071311.1 protein salvador homolog 1 isoform 1

See identical proteins and their annotated locations for NP_071311.1

Status: VALIDATED

Source sequence(s)

AC166827

Consensus CDS

CCDS25956.1

UniProtKB/Swiss-Prot

Q8VEB2, Q9D9N9, Q9ER46

Related

ENSMUSP00000021467.8, ENSMUST00000021467.8

Conserved Domains (1) summary

cd00201
Location:203 → 233

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...