Sav1
Gene Detail

Symbol Name ID

Sav1 salvador homolog 1 (Drosophila) MGI:1927144

Synonyms

1700040G09Rik, Salv, WW45

Feature Type

protein coding gene

Genetic Map

Chromosome 12

28.94 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr12:69965012-69987002 bp, - strand From NCBI annotation of GRCm38   21991 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:32517  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Sav1

Human homologs

Human Homolog		SAV1, salvador homolog 1 (Drosophila)
NCBI Gene ID		60485
neXtProt AC		NX_Q9H4B6
Human Synonyms		SAV, WW45, WWP4
Human Chr (Location)		14q13-q23; chr14:51100298-51135071 (-)  GRCh37.p10

Alleles and phenotypes

All alleles(9) : Targeted(8) Gene trapped(1)
 

Homozygotes for a null allele display fetal growth retardation and lethality, show multiple tissue hyperplasia and dysplasia due to unchecked proliferation and impaired terminal differentiation of epithelial cells, and develop hepatomas. Heterozygotes are prone to tumorigenesis and die prematurely.

 

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	hair follicle development, hippo signaling cascade, ...
Component	cytoplasm, nucleus

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (12)    Tissues (12)   
Theiler Stages: 10, 18, 23, 25, 28

Assay Type	Results
Northern blot	12

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(7) cDNA(7)
Microarray probesets(7)

Other database links

Ensembl Gene Model	ENSMUSG00000021067 (Evidence)
Entrez Gene	64010 (Evidence)
DFCI	TC1575162, TC1609382
NIA Mouse Gene Index	U034042
PDB	2DWV, 2YSB
Consensus CDS Project	CCDS25956.1
International Mouse Knockout Project Status	Sav1

Sequences

Length	Strain/Species
genomic	64010	NCBI Gene Model | MGI Sequence Detail	21991	C57BL/6J
transcript	NM_022028	RefSeq | MGI Sequence Detail	2524	C57BL/6
polypeptide	Q8VEB2	UniProt | EBI | MGI Sequence Detail	386	Not Applicable

All sequences(20) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(65 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR011524	SARAH domain
InterPro	IPR001202	WW domain
Protein Ontology	PR:000014471	protein salvador 1

Graphical View of Protein Domain Structure

References

(Earliest) J:65081 Valverde P, Cloning, expression, and mapping of hWW45, a novel human WW domain-containing gene. Biochem Biophys Res Commun. 2000 Oct 5;276(3):990-8
(Latest) J:195266 Reginensi A, et al., Yap- and Cdc42-Dependent Nephrogenesis and Morphogenesis during Mouse Kidney Development. PLoS Genet. 2013 Mar;9(3):e1003380
All references(36)

Other accession IDs

MGI:1920575