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

Gene ID: 60485, updated on 23-Nov-2021

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
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
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Genomic context

See SAV1 in Genome Data Viewer
Location:
14q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (50633104..50668306, complement)
105.20201022 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 zinc finger protein 678 pseudogene Neighboring gene atlastin GTPase 1 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 452, pseudogene Neighboring gene ZFP64 zinc finger protein pseudogene 1 Neighboring gene ninein Neighboring gene uncharacterized LOC105370489

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

Associated conditions

Description Tests
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
GeneReviews: Not available
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
GeneReviews: Not available
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables beta-1 adrenergic receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor complex adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables type II activin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in hair follicle development IEA
Inferred from Electronic Annotation
more info
 
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 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 epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein stabilization IEA
Inferred from Electronic Annotation
more info
 
involved_in receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ventricular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

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)

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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_021818.4NP_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
    Q9H4B6
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    50633104..50668306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537057.3XP_011535359.1  protein salvador homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011535359.1

    UniProtKB/TrEMBL
    B3KTQ1
    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_017021568.2XP_016877057.1  protein salvador homolog 1 isoform X1

    UniProtKB/TrEMBL
    B3KTQ1
    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 ...
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