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SMURF1 (SMAD specific E3 ubiquitin protein ligase 1)

Identity

Other names-
HGNC (Hugo) SMURF1
LocusID (NCBI) 57154
Atlas_Id 45826
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 98625058 and ends at 98741743 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ALG6 (1p31.3) / SMURF1 (7q22.1)BCAS3 (17q23.2) / SMURF1 (7q22.1)SMURF1 (7q22.1) / AZGP1 (7q22.1)
SMURF1 (7q22.1) / CFAP70 (10q22.2)SMURF1 (7q22.1) / GJC3 (7q22.1)SMURF1 (7q22.1) / INHBA-AS1 (7p14.1)
SMURF1 (7q22.1) / TRIM4 (7q22.1)SMURF1 (7q22.1) / UAP1 (1q23.3)SMURF1 7q22.1 / AZGP1 7q22.1
SMURF1 7q22.1 / GJC3 7q22.1SMURF1 7q22.1 / TRIM4 7q22.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SMURF1   16807
Cards
Entrez_Gene (NCBI)SMURF1  57154  SMAD specific E3 ubiquitin protein ligase 1
Aliases
GeneCards (Weizmann)SMURF1
Ensembl hg19 (Hinxton)ENSG00000198742 [Gene_View]  chr7:98625058-98741743 [Contig_View]  SMURF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000198742 [Gene_View]  chr7:98625058-98741743 [Contig_View]  SMURF1 [Vega]
ICGC DataPortalENSG00000198742
TCGA cBioPortalSMURF1
AceView (NCBI)SMURF1
Genatlas (Paris)SMURF1
WikiGenes57154
SOURCE (Princeton)SMURF1
Genomic and cartography
GoldenPath hg19 (UCSC)SMURF1  -     chr7:98625058-98741743 -  7q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMURF1  -     7q22.1   [Description]    (hg38-Dec_2013)
EnsemblSMURF1 - 7q22.1 [CytoView hg19]  SMURF1 - 7q22.1 [CytoView hg38]
Mapping of homologs : NCBISMURF1 [Mapview hg19]  SMURF1 [Mapview hg38]
OMIM605568   
Gene and transcription
Genbank (Entrez)AB046845 AF199364 AF464850 AK057024 AK126471
RefSeq transcript (Entrez)NM_001199847 NM_020429 NM_181349
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)SMURF1
Cluster EST : UnigeneHs.189329 [ NCBI ]
CGAP (NCI)Hs.189329
Alternative Splicing GalleryENSG00000198742
Gene ExpressionSMURF1 [ NCBI-GEO ]   SMURF1 [ EBI - ARRAY_EXPRESS ]   SMURF1 [ SEEK ]   SMURF1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMURF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57154
GTEX Portal (Tissue expression)SMURF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCE7 (Uniprot)
NextProtQ9HCE7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCE7
Splice isoforms : SwissVarQ9HCE7 (Swissvar)
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.-6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
PhosPhoSitePlusQ9HCE7
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    HECT (PS50237)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)C2_dom    HECT_dom    WW_dom   
Domain families : Pfam (Sanger)C2 (PF00168)    HECT (PF00632)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam00168    pfam00632    pfam00397   
Domain families : Smart (EMBL)C2 (SM00239)  HECTc (SM00119)  WW (SM00456)  
DMDM Disease mutations57154
Blocks (Seattle)SMURF1
PDB (SRS)2LAZ    2LB0    2LB1    2LTX    3PYC   
PDB (PDBSum)2LAZ    2LB0    2LB1    2LTX    3PYC   
PDB (IMB)2LAZ    2LB0    2LB1    2LTX    3PYC   
PDB (RSDB)2LAZ    2LB0    2LB1    2LTX    3PYC   
Structural Biology KnowledgeBase2LAZ    2LB0    2LB1    2LTX    3PYC   
SCOP (Structural Classification of Proteins)2LAZ    2LB0    2LB1    2LTX    3PYC   
CATH (Classification of proteins structures)2LAZ    2LB0    2LB1    2LTX    3PYC   
SuperfamilyQ9HCE7
Human Protein AtlasENSG00000198742
Peptide AtlasQ9HCE7
HPRD06902
IPIIPI00217054   IPI00219332   IPI00979334   
Protein Interaction databases
DIP (DOE-UCLA)Q9HCE7
IntAct (EBI)Q9HCE7
FunCoupENSG00000198742
BioGRIDSMURF1
STRING (EMBL)SMURF1
ZODIACSMURF1
Ontologies - Pathways
QuickGOQ9HCE7
Ontology : AmiGOprotein polyubiquitination  positive regulation of defense response to virus by host  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  phospholipid binding  nucleus  nucleoplasm  cytoplasm  mitochondrion  cytosol  plasma membrane  protein export from nucleus  transforming growth factor beta receptor signaling pathway  ectoderm development  protein ubiquitination  ligase activity  cell differentiation  negative regulation of ossification  axon  BMP signaling pathway  BMP signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  ubiquitin-dependent SMAD protein catabolic process  receptor catabolic process  protein localization to cell surface  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  neuronal cell body  proteasome-mediated ubiquitin-dependent protein catabolic process  activin binding  Wnt signaling pathway, planar cell polarity pathway  ubiquitin protein ligase activity  ubiquitin protein ligase activity  engulfment of target by autophagosome  extracellular exosome  I-SMAD binding  R-SMAD binding  protein targeting to vacuole involved in autophagy  protein targeting to plasma membrane  mitophagy in response to mitochondrial depolarization  positive regulation of dendrite extension  positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process  
Ontology : EGO-EBIprotein polyubiquitination  positive regulation of defense response to virus by host  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  phospholipid binding  nucleus  nucleoplasm  cytoplasm  mitochondrion  cytosol  plasma membrane  protein export from nucleus  transforming growth factor beta receptor signaling pathway  ectoderm development  protein ubiquitination  ligase activity  cell differentiation  negative regulation of ossification  axon  BMP signaling pathway  BMP signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  ubiquitin-dependent SMAD protein catabolic process  receptor catabolic process  protein localization to cell surface  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  neuronal cell body  proteasome-mediated ubiquitin-dependent protein catabolic process  activin binding  Wnt signaling pathway, planar cell polarity pathway  ubiquitin protein ligase activity  ubiquitin protein ligase activity  engulfment of target by autophagosome  extracellular exosome  I-SMAD binding  R-SMAD binding  protein targeting to vacuole involved in autophagy  protein targeting to plasma membrane  mitophagy in response to mitochondrial depolarization  positive regulation of dendrite extension  positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process  
Pathways : BIOCARTAEstrogen-responsive protein Efp controls cell cycle and breast tumors growth [Genes]   
Pathways : KEGGUbiquitin mediated proteolysis    Endocytosis    TGF-beta signaling pathway   
NDEx NetworkSMURF1
Atlas of Cancer Signalling NetworkSMURF1
Wikipedia pathwaysSMURF1
Orthology - Evolution
OrthoDB57154
GeneTree (enSembl)ENSG00000198742
Phylogenetic Trees/Animal Genes : TreeFamSMURF1
Homologs : HomoloGeneSMURF1
Homology/Alignments : Family Browser (UCSC)SMURF1
Gene fusions - Rearrangements
Fusion: TCGASMURF1 7q22.1 AZGP1 7q22.1 HNSC
Fusion: TCGASMURF1 7q22.1 GJC3 7q22.1 HNSC LGG
Fusion: TCGASMURF1 7q22.1 TRIM4 7q22.1 LGG
Polymorphisms : SNP, variants
NCBI Variation ViewerSMURF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMURF1
dbVarSMURF1
ClinVarSMURF1
1000_GenomesSMURF1 
Exome Variant ServerSMURF1
ExAC (Exome Aggregation Consortium)SMURF1 (select the gene name)
Genetic variants : HAPMAP57154
Genomic Variants (DGV)SMURF1 [DGVbeta]
Mutations
ICGC Data PortalSMURF1 
TCGA Data PortalSMURF1 
Broad Tumor PortalSMURF1
OASIS PortalSMURF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMURF1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMURF1
DgiDB (Drug Gene Interaction Database)SMURF1
DoCM (Curated mutations)SMURF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMURF1 (select a term)
intoGenSMURF1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:98625058-98741743  ENSG00000198742
CONAN: Copy Number AnalysisSMURF1 
Mutations and Diseases : HGMDSMURF1
OMIM605568   
MedgenSMURF1
Genetic Testing Registry SMURF1
NextProtQ9HCE7 [Medical]
TSGene57154
GENETestsSMURF1
Huge Navigator SMURF1 [HugePedia]
snp3D : Map Gene to Disease57154
BioCentury BCIQSMURF1
ClinGenSMURF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57154
Chemical/Pharm GKB GenePA134987175
Clinical trialSMURF1
Miscellaneous
canSAR (ICR)SMURF1 (select the gene name)
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMURF1
EVEXSMURF1
GoPubMedSMURF1
iHOPSMURF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:14:10 CEST 2016

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