• Gene id: 60485

Gene Summary

• Gene Symbol: SAV1   Gene   UCSC   Ensembl
• Aliases: SAV, WW45, WWP4
• Gene name: salvador family WW domain containing protein 1
• Alternate names: protein salvador homolog 1, 1700040G09Rik, 45 kDa WW domain protein, WW domain-containing adaptor 45, hWW45, salvador homolog 1,
• Gene location: 14q22.1 (50668305: 50633103)     Exons: 22     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 607203

Protein Summary

• Protein general information: Q9H4B6  
  • Name: Protein salvador homolog 1 (45 kDa WW domain protein) (hWW45)
  • Length: 383  
  • Mass: 44634
  • Tissue specificity: Ubiquitously expressed in adult tissues with highest expression in the pancreas, aorta and interventricular septum and lowest expression in skeletal muscle. Expression was higher in fetal than in the adult heart. Expressed in various c
• Sequence:

  MLSRKKTKNEVSKPAEVQGKYVKKETSPLLRNLMPSFIRHGPTIPRRTDICLPDSSPNAFSTSGDVVSRNQSFLR
  TPIQRTPHEIMRRESNRLSAPSYLARSLADVPREYGSSQSFVTEVSFAVENGDSGSRYYYSDNFFDGQRKRPLGD
  RAHEDYRYYEYNHDLFQRMPQNQGRHASGIGRVAATSLGNLTNHGSEDLPLPPGWSVDWTMRGRKYYIDHNTNTT
  HWSHPLEREGLPPGWERVESSEFGTYYVDHTNKKAQYRHPCAPSVPRYDQPPPVTYQPQQTERNQSLLVPANPYH
  TAEIPDWLQVYARAPVKYDHILKWELFQLADLDTYQGMLKLLFMKELEQIVKMYEAYRQALLTELENRKQRQQWY
  AQQHGKNF

• Structural information:
  • Protein Domains: (199..23-)
    (/note="WW-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (234..26-)
    (/note="WW-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (321..36-)
    (/note="SARAH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00310"-)
  • Interpro: IPR011524  IPR030030  IPR001202  IPR036020  
  • Prosite: PS50951 PS50020
  • CDD: cd00201
  • PDB: 6AO5
  • PDBsum: 6AO5
  • DIP: 36127
  • STRING: ENSP00000324729
• Other Databases: GeneCards:  SAV1  Malacards:  SAV1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IBA	biological process
GO:0035329	hippo signaling	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0035329	hippo signaling	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0035329	hippo signaling	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0035329	hippo signaling	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060575	intestinal epithelial cell differentiation	IEA	biological process
GO:0060044	negative regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0050821	protein stabilization	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0046620	regulation of organ growth	IEA	biological process
GO:0045600	positive regulation of fat cell differentiation	IEA	biological process
GO:0035329	hippo signaling	IEA	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:2000036	regulation of stem cell population maintenance	IEA	biological process
GO:0060487	lung epithelial cell differentiation	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0030216	keratinocyte differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04390	Hippo signaling pathway
hsa04392	Hippo signaling pathway - multiple species

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R