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

    Gene ID: 60485, updated on 3-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_021818.4NP_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:202232
      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_011537057.4XP_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:169199
      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_047431659.1XP_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_054376541.1XP_054232516.1  protein salvador homolog 1 isoform X1

      UniProtKB/TrEMBL
      B3KTQ1, H0YJH0
    2. XM_054376542.1XP_054232517.1  protein salvador homolog 1 isoform X2