Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SMURF1 (SMAD specific E3 ubiquitin protein ligase 1)

Identity

Alias (NCBI)-
HGNC (Hugo) SMURF1
HGNC Alias symbKIAA1625
LocusID (NCBI) 57154
Atlas_Id 45826
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 99027440 and ends at 99144108 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    SMAD specific E3 ubiquitin protein ligase 1
Aliases
GeneCards (Weizmann)SMURF1
Ensembl hg19 (Hinxton)ENSG00000198742 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198742 [Gene_View]  ENSG00000198742 [Sequence]  chr7:99027440-99144108 [Contig_View]  SMURF1 [Vega]
ICGC DataPortalENSG00000198742
TCGA cBioPortalSMURF1
AceView (NCBI)SMURF1
Genatlas (Paris)SMURF1
SOURCE (Princeton)SMURF1
Genetics Home Reference (NIH)SMURF1
Genomic and cartography
GoldenPath hg38 (UCSC)SMURF1  -     chr7:99027440-99144108 -  7q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMURF1  -     7q22.1   [Description]    (hg19-Feb_2009)
GoldenPathSMURF1 - 7q22.1 [CytoView hg19]  SMURF1 - 7q22.1 [CytoView hg38]
ImmunoBaseENSG00000198742
Genome Data Viewer NCBISMURF1 [Mapview hg19]  
OMIM605568   
Gene and transcription
Genbank (Entrez)AB046845 AF199364 AF464850 AK057024 AK126471
RefSeq transcript (Entrez)NM_001199847 NM_020429 NM_181349
Consensus coding sequences : CCDS (NCBI)SMURF1
Gene ExpressionSMURF1 [ NCBI-GEO ]   SMURF1 [ EBI - ARRAY_EXPRESS ]   SMURF1 [ SEEK ]   SMURF1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMURF1 [ Firebrowse - Broad ]
GenevisibleExpression of SMURF1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57154
GTEX Portal (Tissue expression)SMURF1
Human Protein AtlasENSG00000198742-SMURF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCE7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HCE7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCE7
PhosPhoSitePlusQ9HCE7
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    HECT (PS50237)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)C2_dom    C2_domain_sf    E3_ub_ligase_SMURF1    HECT_dom    Hect_E3_ubiquitin_ligase    WW_dom    WW_dom_sf   
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)  
Conserved Domain (NCBI)SMURF1
PDB (RSDB)2LAZ    2LB0    2LB1    2LTX    3PYC   
PDB Europe2LAZ    2LB0    2LB1    2LTX    3PYC   
PDB (PDBSum)2LAZ    2LB0    2LB1    2LTX    3PYC   
PDB (IMB)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
AlphaFold pdb e-kbQ9HCE7   
Human Protein Atlas [tissue]ENSG00000198742-SMURF1 [tissue]
HPRD06902
Protein Interaction databases
DIP (DOE-UCLA)Q9HCE7
IntAct (EBI)Q9HCE7
BioGRIDSMURF1
STRING (EMBL)SMURF1
ZODIACSMURF1
Ontologies - Pathways
QuickGOQ9HCE7
Ontology : AmiGOprotein polyubiquitination  protein polyubiquitination  ubiquitin-protein transferase activity  protein binding  phospholipid binding  nucleoplasm  cytoplasm  cytoplasm  mitochondrion  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  protein export from nucleus  ectoderm development  protein ubiquitination  protein ubiquitination  cell differentiation  axon  BMP signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  negative regulation of BMP signaling pathway  negative regulation of BMP signaling pathway  ubiquitin-dependent SMAD protein catabolic process  ubiquitin-dependent SMAD protein catabolic process  receptor catabolic process  protein localization to cell surface  neuronal cell body  proteasome-mediated ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  positive regulation of protein catabolic process  activin binding  Wnt signaling pathway, planar cell polarity pathway  ubiquitin protein ligase activity  ubiquitin protein ligase activity  ubiquitin protein ligase activity  engulfment of target by autophagosome  substrate localization to autophagosome  extracellular exosome  I-SMAD binding  R-SMAD binding  protein targeting to vacuole involved in autophagy  protein localization to plasma membrane  positive regulation of dendrite extension  positive regulation of ubiquitin-dependent protein catabolic process  
Ontology : EGO-EBIprotein polyubiquitination  protein polyubiquitination  ubiquitin-protein transferase activity  protein binding  phospholipid binding  nucleoplasm  cytoplasm  cytoplasm  mitochondrion  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  protein export from nucleus  ectoderm development  protein ubiquitination  protein ubiquitination  cell differentiation  axon  BMP signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  negative regulation of BMP signaling pathway  negative regulation of BMP signaling pathway  ubiquitin-dependent SMAD protein catabolic process  ubiquitin-dependent SMAD protein catabolic process  receptor catabolic process  protein localization to cell surface  neuronal cell body  proteasome-mediated ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  positive regulation of protein catabolic process  activin binding  Wnt signaling pathway, planar cell polarity pathway  ubiquitin protein ligase activity  ubiquitin protein ligase activity  ubiquitin protein ligase activity  engulfment of target by autophagosome  substrate localization to autophagosome  extracellular exosome  I-SMAD binding  R-SMAD binding  protein targeting to vacuole involved in autophagy  protein localization to plasma membrane  positive regulation of dendrite extension  positive regulation of ubiquitin-dependent protein catabolic process  
Pathways : BIOCARTABIOCARTA_EFPPATHWAY   
Pathways : KEGGKEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS    KEGG_ENDOCYTOSIS    KEGG_TGF_BETA_SIGNALING   
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 : MitelmanSMURF1::AZGP1 [7q22.1/7q22.1]  
Fusion : MitelmanSMURF1::GJC3 [7q22.1/7q22.1]  
Fusion : MitelmanSMURF1::INHBA-AS1 [7q22.1/7p14.1]  
Fusion : MitelmanSMURF1::TRIM4 [7q22.1/7q22.1]  
Fusion : QuiverSMURF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMURF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMURF1
dbVarSMURF1
ClinVarSMURF1
MonarchSMURF1
1000_GenomesSMURF1 
Exome Variant ServerSMURF1
GNOMAD BrowserENSG00000198742
Varsome BrowserSMURF1
ACMGSMURF1 variants
VarityQ9HCE7
Genomic Variants (DGV)SMURF1 [DGVbeta]
DECIPHERSMURF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMURF1 
Mutations
ICGC Data PortalSMURF1 
TCGA Data PortalSMURF1 
Broad Tumor PortalSMURF1
OASIS PortalSMURF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMURF1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSMURF1
Mutations and Diseases : HGMDSMURF1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMURF1
DgiDB (Drug Gene Interaction Database)SMURF1
DoCM (Curated mutations)SMURF1
CIViC (Clinical Interpretations of Variants in Cancer)SMURF1
Cancer3DSMURF1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605568   
Orphanet
DisGeNETSMURF1
MedgenSMURF1
Genetic Testing Registry SMURF1
NextProtQ9HCE7 [Medical]
GENETestsSMURF1
Target ValidationSMURF1
Huge Navigator SMURF1 [HugePedia]
ClinGenSMURF1
Clinical trials, drugs, therapy
MyCancerGenomeSMURF1
Protein Interactions : CTDSMURF1
Pharm GKB GenePA134987175
PharosQ9HCE7
Clinical trialSMURF1
Miscellaneous
canSAR (ICR)SMURF1
HarmonizomeSMURF1
ARCHS4SMURF1
DataMed IndexSMURF1
Probes
Litterature
PubMed199 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMURF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 20 12:59:51 CET 2022

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