ENSG00000151748


Homo sapiens

Features
Gene ID: ENSG00000151748
  
Biological name :SAV1
  
Synonyms : Q9H4B6 / salvador family WW domain containing protein 1 / SAV1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q22.1
Gene start: 50632058
Gene end: 50668331
  
Corresponding Affymetrix probe sets: 218276_s_at (Human Genome U133 Plus 2.0 Array)   222573_s_at (Human Genome U133 Plus 2.0 Array)   234491_s_at (Human Genome U133 Plus 2.0 Array)   238729_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000450571
Ensembl peptide - ENSP00000451596
Ensembl peptide - ENSP00000452104
Ensembl peptide - ENSP00000324729
Ensembl peptide - ENSP00000451492
NCBI entrez gene - 60485     See in Manteia.
OMIM - 607203
RefSeq - XM_017021568
RefSeq - NM_021818
RefSeq - XM_011537057
RefSeq Peptide - NP_068590
swissprot - H0YJT4
swissprot - G3V453
swissprot - Q9H4B6
swissprot - H0YJ02
swissprot - H0YJH0
Ensembl - ENSG00000151748
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sav1ENSDARG00000006196Danio rerio
 SAV1ENSGALG00000012341Gallus gallus
 1 ENSMUSG00000021067Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MAGI3 / Q5TCQ9 / membrane associated guanylate kinase, WW and PDZ domain containing 3ENSG0000008102627
MAGI1 / Q96QZ7 / membrane associated guanylate kinase, WW and PDZ domain containing 1ENSG0000015127626
MAGI2 / Q86UL8 / membrane associated guanylate kinase, WW and PDZ domain containing 2ENSG0000018739124
MAGIX / MAGI family member, X-linkedENSG000002693139


Protein motifs (from Interpro)
Interpro ID Name
 IPR001202  WW domain
 IPR011524  SARAH domain
 IPR030030  Scaffold protein salvador
 IPR036020  WW domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001942 hair follicle development IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0030216 keratinocyte differentiation IEA
 biological_processGO:0035329 hippo signaling IEA
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0045600 positive regulation of fat cell differentiation IEA
 biological_processGO:0046620 regulation of organ growth IEA
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IEA
 biological_processGO:0050821 protein stabilization IEA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0060044 negative regulation of cardiac muscle cell proliferation IEA
 biological_processGO:0060412 ventricular septum morphogenesis IEA
 biological_processGO:0060487 lung epithelial cell differentiation IEA
 biological_processGO:0060575 intestinal epithelial cell differentiation IEA
 biological_processGO:2000036 regulation of stem cell population maintenance IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0032947 protein-containing complex scaffold activity IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Signaling by Hippo


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000164305 CASP3 / P42574 / caspase 3  / reaction
 ENSG00000104375 STK3 / Q13188 / serine/threonine kinase 3  / complex
 ENSG00000101109 STK4 / Q13043 / serine/threonine kinase 4  / complex
 ENSG00000151748 SAV1 / Q9H4B6 / salvador family WW domain containing protein 1  / complex






 

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