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

Gene ID: 57154, updated on 27-Nov-2024

Summary

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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
mouse all
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Genomic context

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See SMURF1 in Genome Data Viewer
Location:
7q22.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99027440..99144108, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100260765..100377379, complement)
RS_2024_09 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

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. SMAD specific E3 ubiquitin protein ligase 1 promotes ovarian cancer cell migration and invasion via the activation of the RhoA/ROCK signaling pathway. Wang W, et al. Oncol Rep, 2019 Jan. PMID 30542716
  2. The impact of common Smurf1 gene variants on the risk, clinical characteristics and short-term prognosis of tuberculous meningitis. Zhang M, et al. Int J Infect Dis, 2021 May. PMID 33711518
  3. Role of SMURF1 ubiquitin ligase in BMP receptor trafficking and signaling. Murakami K, et al. Cell Signal, 2019 Feb. PMID 30395943
  4. Overexpressed Smurf1 is degraded in glioblastoma cells through autophagy in a p62-dependent manner. Han D, et al. FEBS Open Bio, 2022 Jan. PMID 34614303, Free PMC Article
  5. SMURF1 amplification promotes invasiveness in pancreatic cancer. Kwei KA, et al. PLoS One, 2011. PMID 21887346, Free PMC Article

See all (234) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The E3 ligase SMURF1 stabilizes p27 via UbcH7 catalyzed K29-linked ubiquitin chains to promote cell migration SMURF1-UbcH7 K29 ubiquitination of p27 and cell migration.
    Title: The E3 ligase SMURF1 stabilizes p27 via UbcH7 catalyzed K29-linked ubiquitin chains to promote cell migration SMURF1-UbcH7 K29 ubiquitination of p27 and cell migration.
  2. SMURF1 activates the cGAS/STING/IFN-1 signal axis by mediating YY1 ubiquitination to accelerate the progression of lupus nephritis.
    Title: SMURF1 activates the cGAS/STING/IFN-1 signal axis by mediating YY1 ubiquitination to accelerate the progression of lupus nephritis.
  3. Smurf1 polyubiquitinates on K285/K282 of the kinases Mst1/2 to attenuate their tumor-suppressor functions.
    Title: Smurf1 polyubiquitinates on K285/K282 of the kinases Mst1/2 to attenuate their tumor-suppressor functions.
  4. A Golgi-resident GPR108 cooperates with E3 ubiquitin ligase Smurf1 to suppress antiviral innate immunity.
    Title: A Golgi-resident GPR108 cooperates with E3 ubiquitin ligase Smurf1 to suppress antiviral innate immunity.
  5. SMURF1 attenuates endoplasmic reticulum stress by promoting the degradation of KEAP1 to activate NRF2 antioxidant pathway.
    Title: SMURF1 attenuates endoplasmic reticulum stress by promoting the degradation of KEAP1 to activate NRF2 antioxidant pathway.
  6. Smurf1 and Smurf2 mediated polyubiquitination and degradation of RNF220 suppresses Shh-group medulloblastoma.
    Title: Smurf1 and Smurf2 mediated polyubiquitination and degradation of RNF220 suppresses Shh-group medulloblastoma.
  7. Uncovering new insights into the role of the ubiquitin ligase Smurf1 on the regulation of innate immune signaling and resistance to infection.
    Title: Uncovering new insights into the role of the ubiquitin ligase Smurf1 on the regulation of innate immune signaling and resistance to infection.
  8. SMURF1 inhibits the Th17 and Th17.1 polarization and improves the Treg/Th17 imbalance in systemic lupus erythematosus through the ubiquitination of RORgammat.
    Title: SMURF1 inhibits the Th17 and Th17.1 polarization and improves the Treg/Th17 imbalance in systemic lupus erythematosus through the ubiquitination of RORγt.
  9. Smurf1 Facilitates Oxidative Stress and Fibrosis of Ligamentum Flavum by Promoting Nrf2 Ubiquitination and Degradation.
    Title: Smurf1 Facilitates Oxidative Stress and Fibrosis of Ligamentum Flavum by Promoting Nrf2 Ubiquitination and Degradation.
  10. Smurf1 Suppression Enhances Temozolomide Chemosensitivity in Glioblastoma by Facilitating PTEN Nuclear Translocation.
    Title: Smurf1 Suppression Enhances Temozolomide Chemosensitivity in Glioblastoma by Facilitating PTEN Nuclear Translocation.
Submit: New GeneRIF Correction See all GeneRIFs (100)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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

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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)

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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_001199847.2 → NP_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:14 → 138
    C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
    smart00456
    Location:281 → 313
    WW; Domain with 2 conserved Trp (W) residues
    cd00078
    Location:373 → 725
    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_020429.3 → NP_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:14 → 138
    C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
    smart00456
    Location:307 → 339
    WW; Domain with 2 conserved Trp (W) residues
    cd00078
    Location:399 → 754
    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_181349.3 → NP_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:14 → 138
    C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
    smart00456
    Location:281 → 313
    WW; Domain with 2 conserved Trp (W) residues
    cd00078
    Location:373 → 728
    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_2024_08

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_017012457.2 → XP_016867946.1  E3 ubiquitin-protein ligase SMURF1 isoform X1

    Conserved Domains (3) summary
    cd08382
    Location:14 → 138
    C2_Smurf-like; C2 domain present in Smad ubiquitination-related factor (Smurf)-like proteins
    smart00456
    Location:307 → 339
    WW; Domain with 2 conserved Trp (W) residues
    cd00078
    Location:399 → 751
    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_047420637.1 → XP_047276593.1  E3 ubiquitin-protein ligase SMURF1 isoform X2

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

  4. XM_047420635.1 → XP_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HCE7.2 GenPept UniProtKB/Swiss-Prot:Q9HCE7

Gene LinkOut

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