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] See more...

Aliases for SMURF1 Gene

Aliases for SMURF1 Gene

  • SMAD Specific E3 Ubiquitin Protein Ligase 1 2 3 5
  • HECT-Type E3 Ubiquitin Transferase SMURF1 3 4
  • E3 Ubiquitin-Protein Ligase SMURF1 3 4
  • KIAA1625 2 4
  • HSMURF1 3 4
  • SMAD-Specific E3 Ubiquitin-Protein Ligase 1 4
  • Smad Ubiquitination Regulatory Factor 1 3
  • SMAD Ubiquitination Regulatory Factor 1 4
  • Smad-Specific E3 Ubiquitin Ligase 1 3
  • E3 Ubiquitin Ligase SMURF1 3
  • EC 2.3.2.26 4
  • EC 6.3.2 50
  • SMURF1 5

External Ids for SMURF1 Gene

Previous GeneCards Identifiers for SMURF1 Gene

  • GC07M097159
  • GC07M098222
  • GC07M098236
  • GC07M098269
  • GC07M098463
  • GC07M098627
  • GC07M093257

Summaries for SMURF1 Gene

Entrez Gene Summary for SMURF1 Gene

  • 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]

GeneCards Summary for SMURF1 Gene

SMURF1 (SMAD Specific E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with SMURF1 include Wolfram Syndrome and Brachydactyly, Type A2. Among its related pathways are Class I MHC mediated antigen processing and presentation and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include ligase activity and phospholipid binding. An important paralog of this gene is SMURF2.

UniProtKB/Swiss-Prot Summary for SMURF1 Gene

  • E3 ubiquitin-protein ligase that acts as a negative regulator of BMP signaling pathway. Mediates ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes ubiquitination and subsequent proteasomal degradation of TRAF family members and RHOA. Promotes ubiquitination and subsequent proteasomal degradation of MAVS (PubMed:23087404). Plays a role in dendrite formation by melanocytes (PubMed:23999003).

Gene Wiki entry for SMURF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMURF1 Gene

Genomics for SMURF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMURF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMURF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMURF1

Top Transcription factor binding sites by QIAGEN in the SMURF1 gene promoter:
  • AML1a
  • ATF-2
  • Evi-1
  • Pax-5
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for SMURF1 Gene

Latest Assembly
chr7:99,027,435-99,144,118
(GRCh38/hg38)
Size:
116,684 bases
Orientation:
Minus strand

Previous Assembly
chr7:98,625,063-98,741,731
(GRCh37/hg19 by Entrez Gene)
Size:
116,669 bases
Orientation:
Minus strand

chr7:98,625,061-98,741,723
(GRCh37/hg19 by Ensembl)
Size:
116,663 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr7(PATCHES):51,355-51,737 (-)

Genomic View for SMURF1 Gene

Genes around SMURF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMURF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMURF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMURF1 Gene

Proteins for SMURF1 Gene

  • Protein details for SMURF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCE7-SMUF1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase SMURF1
    Protein Accession:
    Q9HCE7
    Secondary Accessions:
    • A4D279
    • B7ZMB6
    • B9EGV3
    • O75853
    • Q547Q3
    • Q9UJT8

    Protein attributes for SMURF1 Gene

    Size:
    757 amino acids
    Molecular mass:
    86114 Da
    Quaternary structure:
    • Interacts with TRAF4. Interacts (via HECT domain) with FBXL15 (via LRR repeats). Interacts with SMAD7 and TGFBR1; SMAD7 recruits SMURF1 to TGFBR1 and regulates TGF-beta receptor degradation. Interacts with MAVS; the interaction is mediated by NDFIP1 (PubMed:23087404).
    SequenceCaution:
    • Sequence=BAB13451.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SMURF1 Gene

    Alternative splice isoforms for SMURF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMURF1 Gene

Selected DME Specific Peptides for SMURF1 Gene

Q9HCE7:
  • PLPPGWE
  • LYEKLLTAVEET
  • RGIEAQFLALQKGFNE
  • LQINPDS
  • RLTVLCAKNL
  • EVSREEIFEESYRQ
  • VLDHTFCVEHNA
  • QPQAGHCR
  • VRGQIVVSLQ
  • GFKALQG
  • NPYYGLF
  • NTRLKHC
  • YFVDHNNRTTQFTDPRL
  • TGVSTWHDPR
  • NLPKAHTCFNRID
  • MKMRPKDL
  • RLLQFVTG
  • HLSYFHFVGR
  • KFRGEEGLDYGGVAREWLYLL
  • LPEGYEQRTT
  • ALQGSTGA
  • PLQGFKAL
  • GPRLFTIH

Post-translational modifications for SMURF1 Gene

  • Auto-ubiquitinated in presence of NDFIP1 (PubMed:23087404). Ubiquitinated by the SCF(FBXL15) complex at Lys-381 and Lys-383, leading to its degradation by the proteasome. Lys-383 is the primary ubiquitination site.
  • Ubiquitination at Lys381 and Lys383
  • Modification sites at PhosphoSitePlus

Other Protein References for SMURF1 Gene

Domains & Families for SMURF1 Gene

Gene Families for SMURF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for SMURF1 Gene

InterPro:
Blocks:
  • C2 domain
  • HECT domain (Ubiquitin-protein ligase)

Suggested Antigen Peptide Sequences for SMURF1 Gene

GenScript: Design optimal peptide antigens:
  • SMURF1 protein (B7ZMB6_HUMAN)
  • SMURF1 protein (B9EGV3_HUMAN)
  • SMAD specific E3 ubiquitin protein ligase 1, isoform CRA_a (D6W5S0_HUMAN)
  • Smad-ubiquitin E3 ligase Smurf1-beta (Q547Q3_HUMAN)
  • SMAD-specific E3 ubiquitin-protein ligase 1 (SMUF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HCE7

UniProtKB/Swiss-Prot:

SMUF1_HUMAN :
  • The C2 domain mediates membrane localization and substrate selection.
Domain:
  • The C2 domain mediates membrane localization and substrate selection.
genes like me logo Genes that share domains with SMURF1: view

Function for SMURF1 Gene

Molecular function for SMURF1 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that acts as a negative regulator of BMP signaling pathway. Mediates ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes ubiquitination and subsequent proteasomal degradation of TRAF family members and RHOA. Promotes ubiquitination and subsequent proteasomal degradation of MAVS (PubMed:23087404). Plays a role in dendrite formation by melanocytes (PubMed:23999003).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.26; Evidence={ECO:0000269|PubMed:19937093};.

Enzyme Numbers (IUBMB) for SMURF1 Gene

Phenotypes From GWAS Catalog for SMURF1 Gene

Gene Ontology (GO) - Molecular Function for SMURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 10458166
GO:0005515 protein binding IPI 15231748
GO:0005543 phospholipid binding TAS 22020285
GO:0016740 transferase activity IEA --
GO:0048185 activin binding NAS 16720724
genes like me logo Genes that share ontologies with SMURF1: view
genes like me logo Genes that share phenotypes with SMURF1: view

Animal Models for SMURF1 Gene

MGI Knock Outs for SMURF1:

Animal Models for research

  • Taconic Biosciences Mouse Models for SMURF1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMURF1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMURF1 Gene

Localization for SMURF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMURF1 Gene

Cytoplasm. Cell membrane. Peripheral membrane protein. Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMURF1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 4
nucleus 4
mitochondrion 3
cytoskeleton 2
peroxisome 2
endosome 2
lysosome 2
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA,IDA 11278251
GO:0005739 colocalizes_with mitochondrion IGI 22020285
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 12151385
genes like me logo Genes that share ontologies with SMURF1: view

Pathways & Interactions for SMURF1 Gene

genes like me logo Genes that share pathways with SMURF1: view

Pathways by source for SMURF1 Gene

1 R&D Systems pathway for SMURF1 Gene
3 Qiagen pathways for SMURF1 Gene
  • Epithelial Tight Junctions
  • SMAD Signaling Network
  • Ubiquitin-Proteasome Dependent Proteolysis
1 Cell Signaling Technology pathway for SMURF1 Gene
1 GeneTex pathway for SMURF1 Gene

UniProtKB/Swiss-Prot Q9HCE7-SMUF1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for SMURF1 Gene

Gene Ontology (GO) - Biological Process for SMURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 19937093
GO:0006511 ubiquitin-dependent protein catabolic process IDA 10458166
GO:0006611 protein export from nucleus IDA 11278251
GO:0007179 transforming growth factor beta receptor signaling pathway TAS --
GO:0007398 ectoderm development TAS 10458166
genes like me logo Genes that share ontologies with SMURF1: view

Drugs & Compounds for SMURF1 Gene

(3) Drugs for SMURF1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for SMURF1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with SMURF1: view

Transcripts for SMURF1 Gene

mRNA/cDNA for SMURF1 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMURF1

Alternative Splicing Database (ASD) splice patterns (SP) for SMURF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19
SP1: -
SP2:
SP3: - -
SP4:
SP5:
SP6: - -
SP7: -
SP8:

Relevant External Links for SMURF1 Gene

GeneLoc Exon Structure for
SMURF1

Expression for SMURF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMURF1 Gene

Protein differential expression in normal tissues from HIPED for SMURF1 Gene

This gene is overexpressed in Adipocyte (18.7), Placenta (15.8), Heart (11.5), and Uterus (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMURF1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMURF1

SOURCE GeneReport for Unigene cluster for SMURF1 Gene:

Hs.189329

mRNA Expression by UniProt/SwissProt for SMURF1 Gene:

Q9HCE7-SMUF1_HUMAN
Tissue specificity: Expressed in melanocytes (PubMed:23999003).

Evidence on tissue expression from TISSUES for SMURF1 Gene

  • Nervous system(4.7)
  • Kidney(2.5)
  • Heart(2.4)
  • Intestine(2.2)
  • Skin(2.2)
  • Muscle(2.2)
  • Bone marrow(2.1)
  • Lung(2.1)
  • Bone(2)
genes like me logo Genes that share expression patterns with SMURF1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMURF1 Gene

Orthologs for SMURF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMURF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SMURF1 29 30
  • 99.21 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SMURF1 30
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SMURF1 30
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SMURF1 29 30
  • 89.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Smurf1 29
  • 88.92 (n)
Cow
(Bos Taurus)
Mammalia SMURF1 29 30
  • 88.73 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Smurf1 29 16 30
  • 88.24 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SMURF1 29 30
  • 84.06 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SMURF1 30
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100491582 29
  • 78.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Smurf1 29
Zebrafish
(Danio rerio)
Actinopterygii smurf1 29 30
  • 77.96 (n)
OneToOne
wufb30b12 29
Fruit Fly
(Drosophila melanogaster)
Insecta lack 30 31
  • 42 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8773 30
  • 63 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8479 29
Species where no ortholog for SMURF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SMURF1 Gene

ENSEMBL:
Gene Tree for SMURF1 (if available)
TreeFam:
Gene Tree for SMURF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMURF1: view image
Alliance of Genome Resources:
Additional Orthologs for SMURF1

Paralogs for SMURF1 Gene

(12) SIMAP similar genes for SMURF1 Gene using alignment to 2 proteins:

  • SMUF1_HUMAN
  • D6W5S0_HUMAN
genes like me logo Genes that share paralogs with SMURF1: view

Variants for SMURF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMURF1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs114043203 Benign: not provided 99,035,506(-) G/A
NM_181349.3(SMURF1):c.2011+9C>T
NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs13246077 -- p.Ser466Tyr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SMURF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SMURF1 Gene

Variant ID Type Subtype PubMed ID
esv25445 CNV gain 19812545
esv2621233 CNV deletion 19546169
esv3614267 CNV gain 21293372
esv3614268 CNV loss 21293372
esv3614269 CNV loss 21293372
esv3614270 CNV loss 21293372
nsv1075046 CNV deletion 25765185
nsv1077494 CNV duplication 25765185
nsv1122167 CNV deletion 24896259
nsv366204 CNV deletion 16902084
nsv951378 CNV deletion 24416366

Variation tolerance for SMURF1 Gene

Residual Variation Intolerance Score: 3.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMURF1 Gene

Human Gene Mutation Database (HGMD)
SMURF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMURF1
Leiden Open Variation Database (LOVD)
SMURF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMURF1 Gene

Disorders for SMURF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SMURF1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
wolfram syndrome
  • diabetes insipidus and mellitus with optic atrophy and deafness
brachydactyly, type a2
  • bda2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SMURF1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SMURF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMURF1 Gene

Publications for SMURF1 Gene

  1. A SMAD ubiquitin ligase targets the BMP pathway and affects embryonic pattern formation. (PMID: 10458166) Zhu H … Thomsen GH (Nature 1999) 2 3 4
  2. SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. (PMID: 23999003) Yoo JC … Yoon TJ (Journal of dermatological science 2013) 3 4
  3. Ndfip1 negatively regulates RIG-I-dependent immune signaling by enhancing E3 ligase Smurf1-mediated MAVS degradation. (PMID: 23087404) Wang Y … Ye X (Journal of immunology (Baltimore, Md. : 1950) 2012) 3 4
  4. Pivotal role of the C2 domain of the Smurf1 ubiquitin ligase in substrate selection. (PMID: 21402695) Lu K … He F (The Journal of biological chemistry 2011) 3 4
  5. SCFFBXL¹⁵ regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1. (PMID: 21572392) Cui Y … Zhang L (The EMBO journal 2011) 3 4

Products for SMURF1 Gene

Sources for SMURF1 Gene