Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SAV1 Gene

Aliases for SAV1 Gene

  • Salvador Family WW Domain Containing Protein 1 2 3 5
  • WW Domain-Containing Adaptor 45 2 3
  • 45 KDa WW Domain Protein 3 4
  • HWW45 3 4
  • WW45 3 4
  • Salvador Homolog 1 (Drosophila) 2
  • Protein Salvador Homolog 1 3
  • Salvador Homolog 1 3
  • 1700040G09Rik 3
  • WWP4 3
  • SAV 3

External Ids for SAV1 Gene

Previous GeneCards Identifiers for SAV1 Gene

  • GC14M044894
  • GC14M049088
  • GC14M049090
  • GC14M050170
  • GC14M051100
  • GC14M031228

Summaries for SAV1 Gene

Entrez Gene Summary for SAV1 Gene

  • WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012]

GeneCards Summary for SAV1 Gene

SAV1 (Salvador Family WW Domain Containing Protein 1) is a Protein Coding gene. Diseases associated with SAV1 include Retinitis Pigmentosa 44 and Wilson-Turner Syndrome. Among its related pathways are Hippo signaling pathway - multiple species and Hippo signaling pathway. An important paralog of this gene is MAGI3.

UniProtKB/Swiss-Prot for SAV1 Gene

  • Regulator of STK3/MST2 and STK4/MST1 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. SAV1 is required for STK3/MST2 and STK4/MST1 activation and promotes cell-cycle exit and terminal differentiation in developing epithelial tissues. Plays a role in centrosome disjunction by regulating the localization of NEK2 to centrosomes, and its ability to phosphorylate CROCC and CEP250. In conjunction with STK3/MST2, activates the transcriptional activity of ESR1 through the modulation of its phosphorylation.

Gene Wiki entry for SAV1 Gene

Additional gene information for SAV1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAV1 Gene

Genomics for SAV1 Gene

Regulatory Elements for SAV1 Gene

Enhancers for SAV1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H050665 1.3 ENCODE dbSUPER 25.8 +0.1 69 5 HNRNPUL1 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZNF143 SMARCB1 ZNF592 KAT8 SAV1 KLHDC2 TMX1 KLHDC1 NEMF FRMD6 POLE2 VCPKMT MAP4K5 CDKL1
GH14H050528 1.3 ENCODE dbSUPER 11.3 +137.2 137206 5 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF207 ZNF143 DEK CDKL1 SAV1 MAP4K5 ENSG00000259113 ATL1 LOC100419913
GH14H050784 1.3 Ensembl ENCODE dbSUPER 10.6 -120.8 -120755 8 HDGF PKNOX1 TBL1XR1 EBF1 RELA POLR2A EED ATF7 RUNX3 IKZF2 NIN ENSG00000252945 ABHD12B SAV1 LOC105370489 GC14M050675
GH14H050319 1.3 ENCODE dbSUPER 10.6 +347.6 347568 3 PKNOX1 ATF1 ARID4B SIN3A FEZF1 ZNF2 TCF12 ELK1 ZNF143 ATF7 ATP5S KLHDC2 NEMF SAV1 MAP4K5 CDKL1 PIR33272 L2HGDH
GH14H050761 1.3 Ensembl ENCODE dbSUPER 10.2 -94.7 -94667 2 INSM2 FEZF1 BATF ATF7 RUNX3 CREM IKZF2 JUNB ZNF488 ZEB2 NIN SAV1 GC14M050675 LOC105370489
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SAV1 on UCSC Golden Path with GeneCards custom track

Promoters for SAV1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000068152 1257 3801 HNRNPUL1 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZNF143 SMARCB1 ZNF592 KAT8

Genomic Location for SAV1 Gene

Chromosome:
14
Start:
50,632,058 bp from pter
End:
50,668,357 bp from pter
Size:
36,300 bases
Orientation:
Minus strand

Genomic View for SAV1 Gene

Genes around SAV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAV1 Gene

Proteins for SAV1 Gene

  • Protein details for SAV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4B6-SAV1_HUMAN
    Recommended name:
    Protein salvador homolog 1
    Protein Accession:
    Q9H4B6
    Secondary Accessions:
    • A8K4B8
    • D3DSB6
    • Q6IA58
    • Q9H949
    • Q9HAK9

    Protein attributes for SAV1 Gene

    Size:
    383 amino acids
    Molecular mass:
    44634 Da
    Quaternary structure:
    • Homodimer. Stabilized through interaction with STK3/MST2 or STK4/MST1. Interacts (via SARAH domain) with isoform 1 of NEK2. Interacts with ESR1 only in the presence of STK3/MST2. Interacts with WTIP and AJUBA.

neXtProt entry for SAV1 Gene

Post-translational modifications for SAV1 Gene

  • Phosphorylated by STK3/MST2 and STK4/MST1. Phosphorylation is not required for SAV1 stability and may increase the number of protein binding sites on the scaffold molecule.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SAV1 Gene

No data available for DME Specific Peptides for SAV1 Gene

Domains & Families for SAV1 Gene

Gene Families for SAV1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SAV1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SAV1: view

No data available for UniProtKB/Swiss-Prot for SAV1 Gene

Function for SAV1 Gene

Molecular function for SAV1 Gene

UniProtKB/Swiss-Prot Function:
Regulator of STK3/MST2 and STK4/MST1 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. SAV1 is required for STK3/MST2 and STK4/MST1 activation and promotes cell-cycle exit and terminal differentiation in developing epithelial tissues. Plays a role in centrosome disjunction by regulating the localization of NEK2 to centrosomes, and its ability to phosphorylate CROCC and CEP250. In conjunction with STK3/MST2, activates the transcriptional activity of ESR1 through the modulation of its phosphorylation.

Phenotypes From GWAS Catalog for SAV1 Gene

Gene Ontology (GO) - Molecular Function for SAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16930133
GO:0032947 protein complex scaffold IEA --
genes like me logo Genes that share ontologies with SAV1: view
genes like me logo Genes that share phenotypes with SAV1: view

Animal Models for SAV1 Gene

MGI Knock Outs for SAV1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SAV1
  • Applied Biological Materials Clones for SAV1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SAV1 Gene

Localization for SAV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAV1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAV1 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA,IEA 19212654
GO:0005737 cytoplasm IDA,IEA 19212654
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SAV1: view

Pathways & Interactions for SAV1 Gene

genes like me logo Genes that share pathways with SAV1: view

Pathways by source for SAV1 Gene

1 Cell Signaling Technology pathway for SAV1 Gene
2 Reactome pathways for SAV1 Gene

SIGNOR curated interactions for SAV1 Gene

Activates:

Gene Ontology (GO) - Biological Process for SAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction IEA --
GO:0030216 keratinocyte differentiation IEA --
GO:0035329 hippo signaling TAS,IEA --
genes like me logo Genes that share ontologies with SAV1: view

Drugs & Compounds for SAV1 Gene

(3) Drugs for SAV1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for SAV1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SAV1: view

Transcripts for SAV1 Gene

Unigene Clusters for SAV1 Gene

Salvador homolog 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SAV1
  • Applied Biological Materials Clones for SAV1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SAV1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
SP1: -
SP2:

Relevant External Links for SAV1 Gene

GeneLoc Exon Structure for
SAV1
ECgene alternative splicing isoforms for
SAV1

Expression for SAV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SAV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SAV1 Gene

This gene is overexpressed in Lung (58.4) and Tlymphocyte (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SAV1 Gene



Protein tissue co-expression partners for SAV1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SAV1 Gene:

SAV1

SOURCE GeneReport for Unigene cluster for SAV1 Gene:

Hs.642842

mRNA Expression by UniProt/SwissProt for SAV1 Gene:

Q9H4B6-SAV1_HUMAN
Tissue specificity: Ubiquitously expressed in adult tissues with highest expression in the pancreas, aorta and interventricular septum and lowest expression in skeletal muscle. Expression was higher in fetal than in the adult heart. Expressed in various cell lines.

Evidence on tissue expression from TISSUES for SAV1 Gene

  • Nervous system(4.6)
  • Kidney(4.3)
genes like me logo Genes that share expression patterns with SAV1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAV1 Gene

Orthologs for SAV1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SAV1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAV1 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia SAV1 33 34
  • 95.04 (n)
cow
(Bos Taurus)
Mammalia SAV1 33 34
  • 93.56 (n)
rat
(Rattus norvegicus)
Mammalia Sav1 33
  • 89.73 (n)
mouse
(Mus musculus)
Mammalia Sav1 33 16 34
  • 89.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SAV1 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SAV1 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAV1 33 34
  • 75.47 (n)
lizard
(Anolis carolinensis)
Reptilia SAV1 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sav1 33
  • 75.04 (n)
Str.20182 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16360 33
zebrafish
(Danio rerio)
Actinopterygii sav1 33 34
  • 65.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta sav 34
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sav-1 34
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToOne
Species where no ortholog for SAV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SAV1 Gene

ENSEMBL:
Gene Tree for SAV1 (if available)
TreeFam:
Gene Tree for SAV1 (if available)

Paralogs for SAV1 Gene

Paralogs for SAV1 Gene

Pseudogenes.org Pseudogenes for SAV1 Gene

genes like me logo Genes that share paralogs with SAV1: view

Variants for SAV1 Gene

Sequence variations from dbSNP and Humsavar for SAV1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_015880 A colon cancer cell line
rs1060183 Likely benign 50,632,960(+) ATTTG(A/G)TACAC downstream-variant-500B, utr-variant-3-prime
rs111734056 Likely benign 50,632,814(+) TTTAA(A/C/G)CACAT downstream-variant-500B, utr-variant-3-prime
rs138209522 Likely benign 50,632,731(+) ATTAG(A/C)CATTT downstream-variant-500B, utr-variant-3-prime
rs183817549 Likely benign 50,632,789(+) ATCTT(A/G)TATAT downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SAV1 Gene

Variant ID Type Subtype PubMed ID
esv3581192 CNV loss 25503493
nsv1039493 CNV gain 25217958
nsv564839 CNV loss 21841781
nsv974336 CNV duplication 23825009

Variation tolerance for SAV1 Gene

Residual Variation Intolerance Score: 21.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SAV1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAV1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAV1 Gene

Disorders for SAV1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SAV1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 44
  • rp44
wilson-turner syndrome
  • mental retardation, x-linked, syndromic 6
- elite association - COSMIC cancer census association via MalaCards
Search SAV1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SAV1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SAV1
genes like me logo Genes that share disorders with SAV1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SAV1 Gene

Publications for SAV1 Gene

  1. The human WW45 protein enhances MST1-mediated apoptosis in vivo. (PMID: 19212654) Luo X … Gong J (International journal of molecular medicine 2009) 3 4 22 60
  2. Association of mammalian sterile twenty kinases, Mst1 and Mst2, with hSalvador via C-terminal coiled-coil domains, leads to its stabilization and phosphorylation. (PMID: 16930133) Callus BA … Vaux DL (The FEBS journal 2006) 3 4 22 60
  3. salvador Promotes both cell cycle exit and apoptosis in Drosophila and is mutated in human cancer cell lines. (PMID: 12202036) Tapon N … Hariharan IK (Cell 2002) 2 3 4 60
  4. Cloning, expression, and mapping of hWW45, a novel human WW domain-containing gene. (PMID: 11027580) Valverde P (Biochemical and biophysical research communications 2000) 2 3 4 60
  5. DLG5 connects cell polarity and Hippo signaling protein networks by linking PAR-1 with MST1/2. (PMID: 28087714) Kwan J … Vasioukhin V (Genes & development 2016) 3 4 60

Products for SAV1 Gene

  • Addgene plasmids for SAV1

Sources for SAV1 Gene

Content
Loading form....