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

Gene ID: 60485, updated on 5-Jan-2025

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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cardiac muscle cell proliferation  
involved_in epithelial cell proliferation  
involved_in hair follicle development  
involved_in hippo signaling  
involved_in hippo signaling PubMed 
involved_in hippo signaling  
involved_in intestinal epithelial cell differentiation  
involved_in keratinocyte apoptotic process  
involved_in keratinocyte differentiation  
involved_in lung epithelial cell differentiation  
involved_in negative regulation of cardiac muscle cell proliferation  
involved_in negative regulation of cell population proliferation  
involved_in negative regulation of epithelial cell proliferation  
involved_in positive regulation of apoptotic process  
involved_in positive regulation of fat cell differentiation  
involved_in positive regulation of keratinocyte apoptotic process  
acts_upstream_of_or_within protein stabilization PubMed 
involved_in regulation of gene expression  
involved_in regulation of stem cell population maintenance  
involved_in ventricular septum morphogenesis  
Component Evidence Code Pubs
is_active_in cytoplasm PubMed 
located_in cytoplasm PubMed 
is_active_in cytosol  
located_in cytosol  
located_in cytosol  
located_in nucleus 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)

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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
    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

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