About   Help   FAQ
Sav1 Gene Detail
Summary
  • Symbol
    Sav1
  • Name
    salvador family WW domain containing 1
  • Synonyms
    1700040G09Rik, Salv, WW45
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927144
    NCBI Gene: 64010
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:70011786-70033776 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 28.94 cM, cytoband C3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    525 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927144
 protein coding gene Chr12:70011786-70033864 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019805
 protein coding gene Chr12:69690710-69713631 (-)
A/J MGP_AJ_G0019763
 protein coding gene Chr12:67090839-67112749 (-)
AKR/J MGP_AKRJ_G0019739
 protein coding gene Chr12:69100816-69123760 (-)
BALB/cJ MGP_BALBcJ_G0019743
 protein coding gene Chr12:67553113-67578889 (-)
C3H/HeJ MGP_C3HHeJ_G0019549
 protein coding gene Chr12:69574308-69596043 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020195
 protein coding gene Chr12:71917729-71939906 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017815
 protein coding gene Chr12:64628233-64650483 (-)
CAST/EiJ MGP_CASTEiJ_G0019100
 protein coding gene Chr12:64320853-64344731 (-)
CBA/J MGP_CBAJ_G0019518
 protein coding gene Chr12:74589077-74611689 (-)
DBA/2J MGP_DBA2J_G0019634
 protein coding gene Chr12:67006032-67028262 (-)
FVB/NJ MGP_FVBNJ_G0019621
 protein coding gene Chr12:65903901-65925994 (-)
LP/J MGP_LPJ_G0019706
 protein coding gene Chr12:69652706-69674889 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019660
 protein coding gene Chr12:77884078-77906029 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020230
 protein coding gene Chr12:68585308-68607669 (-)
PWK/PhJ MGP_PWKPhJ_G0018865
 protein coding gene Chr12:61275499-61298550 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018660
 protein coding gene Chr12:62955840-62982125 (-)
WSB/EiJ MGP_WSBEiJ_G0019151
 protein coding gene Chr12:69207479-69236594 (-)



Homology
more
  • Human Ortholog
    SAV1, salvador family WW domain containing protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SAV1, salvador family WW domain containing protein 1
  • Synonyms
    SAV, WW45, WWP4
  • Links
    NCBI Gene ID: 60485
    neXtProt AC: NX_Q9H4B6
    UniProt: Q9H4B6

  • Chr Location
    14q22.1; chr14:50632058-50668306 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Sav1 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    45 phenotypes from 5 alleles in 7 genetic backgrounds
    7 phenotypes from multigenic genotypes
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a null allele display fetal growth retardation and lethality, show multiple tissue hyperplasia and dysplasia due to unchecked proliferation and impaired terminal differentiation of epithelial cells, and develop hepatomas. Heterozygotes are prone to tumorigenesis and die prematurely.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    44
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    718
  • Tissues
    12
  • cDNA Data
    8
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021067 Ensembl Gene Model | MGI Sequence Detail 21991 C57BL/6J ±  kb
    transcript ENSMUST00000021467 Ensembl | MGI Sequence Detail 2524 Not Applicable  
    polypeptide ENSMUSP00000021467 Ensembl | MGI Sequence Detail 386 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 8

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1920575
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 11
      Phenotypes 38
    • Earliest
      J:65081 Valverde P, Cloning, expression, and mapping of hWW45, a novel human WW domain-containing gene. Biochem Biophys Res Commun. 2000 Oct 5;276(3):990-8
    • Latest
      J:348374 Moon D, et al., Loss of SAV1 in Kidney Proximal Tubule Induces Maladaptive Repair after Ischemia and Reperfusion Injury. Int J Mol Sci. 2024 Apr 23;25(9)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory