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

Gene ID: 64010, updated on 8-Feb-2024

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 several functions, including identical protein binding activity; signaling receptor binding activity; and signaling receptor complex adaptor activity. Acts upstream of or within several processes, including epithelial cell differentiation; hippo signaling; and negative regulation of cell population proliferation. Predicted to be located in cytosol and nucleus. Predicted to be active in cell-cell junction; cytoplasm; and dendrite. 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, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 18.7), bladder adult (RPKM 17.0) and 28 other tissues See more
Orthologs
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Genomic context

See Sav1 in Genome Data Viewer
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_000078.7Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase kinase 5 Neighboring gene RIKEN cDNA 4931403G20 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:70968432-70968671 Neighboring gene STARR-seq mESC enhancer starr_32379 Neighboring gene atlastin GTPase 1 Neighboring gene STARR-seq mESC enhancer starr_32381 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene RuvB-like protein 1 pseudogene Neighboring gene predicted gene, 52003 Neighboring gene synaptotagmin binding, cytoplasmic RNA interacting protein pseudogene Neighboring gene predicted gene, 19221 Neighboring gene predicted gene, 53725 Neighboring gene predicted gene, 23579 Neighboring gene ninein Neighboring gene STARR-seq mESC enhancer starr_32383 Neighboring gene predicted gene 9997

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (8)  1 citation
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables molecular adaptor activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
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 
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 
acts_upstream_of_or_within positive regulation of DNA-binding transcription factor activity ISO
Inferred from Sequence Orthology
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
PubMed 
involved_in regulation of cell population proliferation 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 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within ventricular septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

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)

  1. NM_001417786.1NP_001404715.1  protein salvador homolog 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC166827
  2. NM_001417788.1NP_001404717.1  protein salvador homolog 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC166827
  3. NM_022028.3NP_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:203233
    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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    70011786..70033864 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)