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SAV1 salvador family WW domain containing protein 1 [ Homo sapiens (human) ]

Gene ID: 60485, updated on 14-Nov-2024

Summary

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Official Symbol
SAV1provided by HGNC
Official Full Name
salvador family WW domain containing protein 1provided by HGNC
Primary source
HGNC:HGNC:17795
See related
Ensembl:ENSG00000151748 MIM:607203; AllianceGenome:HGNC:17795
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SAV; WW45; WWP4
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 16.7), testis (RPKM 15.2) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See SAV1 in Genome Data Viewer
Location:
14q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50633580..50668306, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (44839725..44874442, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (51100298..51135024, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase kinase 5 Neighboring gene uncharacterized LOC124903312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:51026957-51027456 Neighboring gene atlastin GTPase 1 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8360 Neighboring gene RNA, 7SL, cytoplasmic 452, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:51123951-51124450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5725 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5726 Neighboring gene ZFP64 zinc finger protein pseudogene 1 Neighboring gene uncharacterized LOC124903313 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:51210620-51211819 Neighboring gene ninein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Smoke-induced SAV1 Gene Promoter Hypermethylation Disrupts YAP Negative Feedback and Promotes Malignant Progression of Non-small Cell Lung Cancer.
    Title: Smoke-induced SAV1 Gene Promoter Hypermethylation Disrupts YAP Negative Feedback and Promotes Malignant Progression of Non-small Cell Lung Cancer.
  2. ALKBH5 Promotes Multiple Myeloma Tumorigenicity through inducing m(6)A-demethylation of SAV1 mRNA and Myeloma Stem Cell Phenotype.
    Title: ALKBH5 Promotes Multiple Myeloma Tumorigenicity through inducing m(6)A-demethylation of SAV1 mRNA and Myeloma Stem Cell Phenotype.
  3. Cell adhesion molecule KIRREL1 is a feedback regulator of Hippo signaling recruiting SAV1 to cell-cell contact sites.
    Title: Cell adhesion molecule KIRREL1 is a feedback regulator of Hippo signaling recruiting SAV1 to cell-cell contact sites.
  4. RNA-binding protein Musashi2 regulates Hippo signaling via SAV1 and MOB1 in pancreatic cancer.
    Title: RNA-binding protein Musashi2 regulates Hippo signaling via SAV1 and MOB1 in pancreatic cancer.
  5. BCL-2 is a new regulator of MST pathway. First, protein levels of MST2 and SAV1 were reduced significantly by co-expression of BCL-2. Physical interaction of BCL-2 with SAV1 was correlated with proteasomal degradation of SAV1 and MST2 proteins.
    Title: Mammalian Hippo kinase pathway is downregulated by BCL-2 via protein degradation.
  6. Authors report that SAV1, a Hippo signaling component, inhibits Akt, a function independent of its role in Hippo signaling. Binding to a proline-tyrosine motif in the Akt-PH domain, SAV1 suppresses Akt activation by blocking Akt's movement to plasma membrane. Authors further identify cancer-associated SAV1 mutations with impaired ability to bind Akt, leading to Akt hyperactivation.
    Title: MERTK mediated novel site Akt phosphorylation alleviates SAV1 suppression.
  7. SAV1 suppresses tumor growth in colorectal cancer and is regulated by miR-21.
    Title: SAV1, regulated by microRNA-21, suppresses tumor growth in colorectal cancer.
  8. These results suggest Salvador enhances the effects of Hippo kinase activity at multiple points in the Hippo pathway.
    Title: Salvador has an extended SARAH domain that mediates binding to Hippo kinase.
  9. Here, the authors discover SAV1-mediated inhibition of the PP2A complex STRIPAK(SLMAP) as a key mechanism of MST1/2 activation.
    Title: SAV1 promotes Hippo kinase activation through antagonizing the PP2A phosphatase STRIPAK.
  10. WW45 has suppressive roles in lung cancer through a pathway involving Hedgehog/Gli1 signaling.
    Title: WW45, a Gli1 binding protein, negatively regulated Hedgehog signaling in lung cancer.
Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
EBI GWAS Catalog
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
EBI GWAS Catalog
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription regulator activator activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in hair follicle development IEA
Inferred from Electronic Annotation
more info
  
involved_in hippo signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in hippo signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in hippo signaling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intestinal epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in keratinocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in lung epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of keratinocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within protein stabilization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
  
involved_in ventricular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein salvador homolog 1
Names
1700040G09Rik
45 kDa WW domain protein
WW domain-containing adaptor 45
hWW45
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_021818.4 → NP_068590.1  protein salvador homolog 1

    See identical proteins and their annotated locations for NP_068590.1

    Status: REVIEWED

    Source sequence(s)
    AK023071, BC006385, DA479812, DB543756
    Consensus CDS
    CCDS9701.1
    UniProtKB/Swiss-Prot
    A8K4B8, D3DSB6, Q6IA58, Q9H4B6, Q9H949, Q9HAK9
    Related
    ENSP00000324729.4, ENST00000324679.5
    Conserved Domains (1) summary
    cd00201
    Location:202 → 232
    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_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    50633580..50668306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537057.4 → XP_011535359.1  protein salvador homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011535359.1

    UniProtKB/TrEMBL
    B3KTQ1, H0YJH0
    Related
    ENSP00000451492.1, ENST00000555720.5
    Conserved Domains (1) summary
    cd00201
    Location:169 → 199
    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 ...

  2. XM_047431659.1 → XP_047287615.1  protein salvador homolog 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    44839725..44874442 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376541.1 → XP_054232516.1  protein salvador homolog 1 isoform X1

    UniProtKB/TrEMBL
    B3KTQ1

  2. XM_054376542.1 → XP_054232517.1  protein salvador homolog 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H4B6.2 GenPept UniProtKB/Swiss-Prot:Q9H4B6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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