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

    Gene ID: 57154, updated on 17-Jun-2024

    Summary

    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 MIM:605568; AllianceGenome:HGNC:16807
    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]
    Expression
    Ubiquitous expression in testis (RPKM 21.9), stomach (RPKM 11.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SMURF1 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99027440..99144108, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100260765..100377379, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98625063..98741731, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene transformation/transcription domain associated protein Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:98547245-98548444 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:98558926-98559090 Neighboring gene uncharacterized LOC101927550 Neighboring gene RNF14 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98631759-98632259 Neighboring gene Sharpr-MPRA regulatory region 1794 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98695995-98696849 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98696850-98697703 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:98700145-98701344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98706490-98706992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26311 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18402 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:98749275-98749496 Neighboring gene karyopherin subunit alpha 7 Neighboring gene Sharpr-MPRA regulatory region 10979 Neighboring gene Sharpr-MPRA regulatory region 10425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98848211-98848712 Neighboring gene uncharacterized LOC105375421 Neighboring gene myosin heavy chain 16 (pseudogene)

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1625

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables I-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables R-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables activin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phospholipid binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase activity TAS
    Traceable Author Statement
    more info
     
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Wnt signaling pathway, planar cell polarity pathway TAS
    Traceable Author Statement
    more info
     
    involved_in cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ectoderm development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in engulfment of target by autophagosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of BMP signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of axon extension IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of dendrite extension IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein export from nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein targeting to vacuole involved in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in receptor catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in substrate localization to autophagosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    colocalizes_with mitochondrion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase SMURF1
    Names
    E3 ubiquitin ligase SMURF1
    HECT-type E3 ubiquitin transferase SMURF1
    Smad ubiquitination regulatory factor 1
    Smad-specific E3 ubiquitin ligase 1
    hSMURF1
    NP_001186776.1
    NP_065162.1
    NP_851994.1
    XP_016867946.1
    XP_047276591.1
    XP_047276592.1
    XP_047276593.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001199847.2NP_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, DB727777
      UniProtKB/Swiss-Prot
      Q9HCE7
      Conserved Domains (3) summary
      cd08382
      Location:14138
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      smart00456
      Location:281313
      WW; Domain with 2 conserved Trp (W) residues
      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 ...
    2. NM_020429.3NP_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, DB727777
      Consensus CDS
      CCDS34690.1
      UniProtKB/Swiss-Prot
      A4D279, B7ZMB6, B9EGV3, O75853, Q547Q3, Q9HCE7, Q9UJT8
      Related
      ENSP00000354621.1, ENST00000361125.1
      Conserved Domains (3) summary
      cd08382
      Location:14138
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      smart00456
      Location:307339
      WW; Domain with 2 conserved Trp (W) residues
      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 ...
    3. NM_181349.3NP_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, DB727777
      Consensus CDS
      CCDS34689.1
      UniProtKB/Swiss-Prot
      Q9HCE7
      Related
      ENSP00000355326.2, ENST00000361368.7
      Conserved Domains (3) summary
      cd08382
      Location:14138
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      smart00456
      Location:281313
      WW; Domain with 2 conserved Trp (W) residues
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      99027440..99144108 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012457.2XP_016867946.1  E3 ubiquitin-protein ligase SMURF1 isoform X1

      Conserved Domains (3) summary
      cd08382
      Location:14138
      C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
      smart00456
      Location:307339
      WW; Domain with 2 conserved Trp (W) residues
      cd00078
      Location:399751
      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 ...
    2. XM_047420637.1XP_047276593.1  E3 ubiquitin-protein ligase SMURF1 isoform X2

    3. XM_047420636.1XP_047276592.1  E3 ubiquitin-protein ligase SMURF1 isoform X2

    4. XM_047420635.1XP_047276591.1  E3 ubiquitin-protein ligase SMURF1 isoform X2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852929.1 Reference GRCh38.p14 PATCHES

      Range
      51355..51737 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      100260765..100377379 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)