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    SMURF1 SMAD specific E3 ubiquitin protein ligase 1 [ Homo sapiens (human) ]

    Gene ID: 57154, updated on 27-Jun-2015
    Official Symbol
    SMURF1provided by HGNC
    Official Full Name
    SMAD specific E3 ubiquitin protein ligase 1provided by HGNC
    Primary source
    HGNC:HGNC:16807
    See related
    Ensembl:ENSG00000198742; HPRD:06902; MIM:605568; Vega:OTTHUMG00000150272
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]
    Orthologs
    See SMURF1 in Epigenomics, MapViewer
    Location:
    7q22.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (99027435..99144120, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98625058..98741743, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene microRNA 3609 Neighboring gene transformation/transcription domain-associated protein Neighboring gene ring finger protein 14 pseudogene Neighboring gene uncharacterized LOC101927550 Neighboring gene uncharacterized LOC105375420 Neighboring gene karyopherin alpha 7 (importin alpha 8) Neighboring gene uncharacterized LOC105375421 Neighboring gene myosin, heavy chain 16 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of SMAD specific E3 ubiquitin protein ligase 1 (SMURF1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Asymmetric localization of PCP proteins, organism-specific biosystem (from REACTOME)
      Asymmetric localization of PCP proteins, organism-specific biosystemOne of the hallmarks of the Planar Cell Polarity pathway is the asymmetric distribution of proteins on opposite membranes of a single cell. In Drosophila, Stbm and Pk (homologues to the human VANGL1/...
    • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      BMP receptor signaling, organism-specific biosystem
      BMP receptor signaling
    • BMP signalling and regulation, organism-specific biosystem (from WikiPathways)
      BMP signalling and regulation, organism-specific biosystem"BMP signals are mediated by type I and II BMP receptors and their downstream molecules Smad1, 5 and 8. Phosphorylated Smad1, 5 and 8 proteins form a complex with Smad4 and then are translocated into...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Downregulation of TGF-beta receptor signaling, organism-specific biosystem (from REACTOME)
      Downregulation of TGF-beta receptor signaling, organism-specific biosystemTGF-beta receptor signaling is downregulated by proteasome and lysosome-mediated degradation of ubiquitinated TGFBR1, SMAD2 and SMAD3, as well as by dephosphorylation of TGFBR1, SMAD2 and SMAD3. In t...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • PCP/CE pathway, organism-specific biosystem (from REACTOME)
      PCP/CE pathway, organism-specific biosystemThe planar cell polarity (PCP) pathway controls the establishment of polarity within the plane of a sheet of cells. PCP was initially characterized in Drosophila, where it controls the arrangement o...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by BMP, organism-specific biosystem (from REACTOME)
      Signaling by BMP, organism-specific biosystemThe TGF-beta/BMP (bone morphogenetic protein) pathway incorporates several signalling pathways that share most, but not all, components of a central signal transduction engine. The general signalling...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
      Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • Signaling events mediated by HDAC Class I, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by HDAC Class I, organism-specific biosystem
      Signaling events mediated by HDAC Class I
    • TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling Pathway, organism-specific biosystem"The TGF beta receptors TGFBR1 and TGFBR2 belong to a subfamily of membrane-bound serine/threonine kinases which are designated as Type I or II based on their structural and functional properties. Th...
    • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      TGF-beta receptor signaling, organism-specific biosystem
      TGF-beta receptor signaling
    • TGF-beta receptor signaling activates SMADs, organism-specific biosystem (from REACTOME)
      TGF-beta receptor signaling activates SMADs, organism-specific biosystemBinding of transforming growth factor beta 1 (TGF beta 1, i.e. TGFB1) to TGF beta receptor type 2 (TGFBR2) activates TGF beta receptor signaling cascade. TGFB1 is posttranslationally processed by fur...
    • TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition), organism-specific biosystem (from REACTOME)
      TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition), organism-specific biosystemIn normal cells and in the early stages of cancer development, signaling by TGF-beta plays a tumor suppressive role, as SMAD2/3:SMAD4-mediated transcription inhibits cell division by downregulating M...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
      beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1625

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    I-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    R-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    activin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin protein ligase activity TAS
    Traceable Author Statement
    more info
     
    ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
     
    activation of mitophagy in response to mitochondrial depolarization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ectoderm development TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of BMP signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    positive regulation of defense response to virus by host IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of dendrite extension IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein export from nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein targeting to plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    protein targeting to vacuole involved in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    ubiquitin-dependent SMAD protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with mitochondrion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    E3 ubiquitin-protein ligase SMURF1
    Names
    E3 ubiquitin-protein ligase SMURF1
    E3 ubiquitin ligase SMURF1
    SMAD-specific E3 ubiquitin-protein ligase 1
    Smad ubiquitination regulatory factor 1
    Smad-specific E3 ubiquitin ligase 1
    hSMURF1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001199847.1NP_001186776.1  E3 ubiquitin-protein ligase SMURF1 isoform 3

      See identical proteins and their annotated locations for NP_001186776.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. Isoform 3 is shorter than isoform 1.
      Source sequence(s)
      BC136804, BC144414, BC152468, BM981719, DB727777
      UniProtKB/Swiss-Prot
      Q9HCE7
      Conserved Domains (4) summary
      cd08382
      Location:14138
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      smart00119
      Location:397725
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:373725
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd00201
      Location:283313
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    2. NM_020429.2NP_065162.1  E3 ubiquitin-protein ligase SMURF1 isoform 1

      See identical proteins and their annotated locations for NP_065162.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1) of this protein.
      Source sequence(s)
      BC152468, BM981719, DB727777
      Consensus CDS
      CCDS34690.1
      UniProtKB/Swiss-Prot
      Q9HCE7
      Related
      ENSP00000354621, OTTHUMP00000205583, ENST00000361125, OTTHUMT00000335001
      Conserved Domains (4) summary
      cd08382
      Location:14138
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      smart00119
      Location:423754
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:399754
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd00201
      Location:309339
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    3. NM_181349.2NP_851994.1  E3 ubiquitin-protein ligase SMURF1 isoform 2

      See identical proteins and their annotated locations for NP_851994.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. Isoform 2 is shorter than isoform 1.
      Source sequence(s)
      AF199364, BC152468, BM981719, DB727777
      Consensus CDS
      CCDS34689.1
      UniProtKB/Swiss-Prot
      Q9HCE7
      Related
      ENSP00000355326, OTTHUMP00000024663, ENST00000361368, OTTHUMT00000059366
      Conserved Domains (4) summary
      cd08382
      Location:14138
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      smart00119
      Location:397728
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:373728
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd00201
      Location:283313
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

      Range
      99027435..99144120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516421.1XP_011514723.1  

      Conserved Domains (4) summary
      cd08382
      Location:35155
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      smart00119
      Location:414742
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:390742
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd00201
      Location:300330
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    2. XM_011516420.1XP_011514722.1  

      Conserved Domains (4) summary
      cd08382
      Location:35155
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      smart00119
      Location:414745
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:390745
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd00201
      Location:300330
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    3. XM_011516419.1XP_011514721.1  

      Conserved Domains (4) summary
      cd08382
      Location:35155
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      smart00119
      Location:440768
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:416768
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd00201
      Location:326356
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    4. XM_011516418.1XP_011514720.1  

      Conserved Domains (4) summary
      cd08382
      Location:35155
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      smart00119
      Location:440771
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:416771
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd00201
      Location:326356
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      98555482..98672053
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)