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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
  • 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-Protein Ligase SMURF1 3
  • E3 Ubiquitin Ligase SMURF1 3
  • EC 2.3.2.26 4
  • KIAA1625 4
  • EC 6.3.2 61

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 Colonic Benign Neoplasm. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Innate Immune System. GO annotations related to this gene include ligase activity and phospholipid binding. An important paralog of this gene is SMURF2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SMURF1 Gene

Genomics for SMURF1 Gene

Regulatory Elements for SMURF1 Gene

Enhancers for SMURF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G099207 1.9 FANTOM5 Ensembl ENCODE dbSUPER 28.1 -65.9 -65898 5.9 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF121 FOS SMURF1 ARPC1B TRIM4 PDAP1 BUD31 ARPC1A ZNF655 FAM200A PTCD1 KPNA7
GH07G099579 1.5 FANTOM5 Ensembl ENCODE 28.5 -436.3 -436281 1.2 AGO1 ZNF2 RAD21 ZBTB40 ZNF354C ZNF366 ZNF263 ZNF202 ZNF680 ELF4 ZSCAN25 LOC100131859 TRRAP AP4M1 ZNF655 LOC101927550 LOC100419643 ENSG00000242798 STAG3L5P SMURF1
GH07G099223 1.5 Ensembl ENCODE dbSUPER 25.4 -80.8 -80825 1.9 PKNOX1 ATF1 ARNT YBX1 TCF12 GTF3C2 CBX5 FOS JUNB TSHZ1 ZSCAN25 SMURF1 TRRAP ZNF655 LOC100419643 ENSG00000242798 LOC101927550 ZKSCAN5 AP4M1 LOC100131859
GH07G099464 1.2 ENCODE 29.4 -321.7 -321685 2.0 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 MEF2D ZSCAN25 ZNF655 LOC100131859 TRRAP LOC101927550 SMURF1 AP4M1 LOC100419643 ENSG00000242798 STAG3L5P
GH07G098348 1.2 ENCODE dbSUPER 28.5 +795.3 795291 1.0 HDAC1 ZNF493 ZFP64 CHAMP1 TCF12 EGR1 FOS RCOR1 ZNF202 ZNF680 TRRAP RPS3AP26 ENSG00000231859 LOC101927550 LOC100419643 SMURF1 ENSG00000272950
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMURF1 on UCSC Golden Path with GeneCards custom track

Promoters for SMURF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000215631 920 3601 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF766 ZNF548 KLF13

Genomic Location for SMURF1 Gene

Chromosome:
7
Start:
99,027,435 bp from pter
End:
99,144,120 bp from pter
Size:
116,686 bases
Orientation:
Minus strand

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 isoforms=2381 and isoforms=2383
  • Modification sites at PhosphoSitePlus

Other Protein References for SMURF1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMURF1 (SMURF1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for SMURF1

Domains & Families for SMURF1 Gene

Protein Domains for SMURF1 Gene

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

No data available for Gene Families for SMURF1 Gene

Function for SMURF1 Gene

Molecular function for SMURF1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
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).

Enzyme Numbers (IUBMB) 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 TAS,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 Model Products

  • Taconic Biosciences Mouse Models for SMURF1

CRISPR Products

Inhibitory RNA Products

Clone Products

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
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
mitochondrion 3
peroxisome 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for SMURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,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

UniProtKB/Swiss-Prot Q9HCE7-SMUF1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for SMURF1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for SMURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 19937093
GO:0006611 protein export from nucleus IDA 11278251
GO:0007179 transforming growth factor beta receptor signaling pathway TAS --
GO:0007398 ectoderm development TAS 10458166
GO:0016567 protein ubiquitination IDA 11278251
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
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with SMURF1: view

Transcripts for SMURF1 Gene

Unigene Clusters for SMURF1 Gene

SMAD specific E3 ubiquitin protein ligase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
SMURF1

Expression for SMURF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SMURF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SMURF1 Gene:

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(4.6)
genes like me logo Genes that share expression patterns with SMURF1: view

Primer Products

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 34 35
  • 99.21 (n)
oppossum
(Monodelphis domestica)
Mammalia SMURF1 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMURF1 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMURF1 34 35
  • 89.48 (n)
rat
(Rattus norvegicus)
Mammalia Smurf1 34
  • 88.92 (n)
cow
(Bos Taurus)
Mammalia SMURF1 34 35
  • 88.73 (n)
mouse
(Mus musculus)
Mammalia Smurf1 34 16 35
  • 88.24 (n)
chicken
(Gallus gallus)
Aves SMURF1 34 35
  • 84.06 (n)
lizard
(Anolis carolinensis)
Reptilia SMURF1 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491582 34
  • 78.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Smurf1 34
zebrafish
(Danio rerio)
Actinopterygii smurf1 34 35
  • 77.96 (n)
wufb30b12 34
fruit fly
(Drosophila melanogaster)
Insecta lack 35 36
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8773 35
  • 63 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8479 34
Species where no ortholog for SMURF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for SMURF1 Gene

Paralogs for SMURF1 Gene

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

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

Variants for SMURF1 Gene

Sequence variations from dbSNP and Humsavar for SMURF1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000003305 -- 99,138,872(+) CAGCA(G/T)TTGTT intron-variant
rs1000061479 -- 99,146,045(+) TAATC(C/T)ATCCA upstream-variant-2KB, utr-variant-3-prime
rs1000101350 -- 99,051,564(+) TCCCA(C/G)TTCTT intron-variant
rs1000108178 -- 99,062,960(+) TTGTC(A/G)CCAGA intron-variant
rs1000123996 -- 99,044,627(+) GAGAG(A/G)TCCAG intron-variant

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)

Relevant External Links for SMURF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMURF1

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

Disorders for SMURF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SMURF1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wolfram syndrome
  • wolfram syndrome 1
colonic benign neoplasm
  • colon neoplasm
cerebral cavernous malformations-2
  • cerebral cavernous malformation 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SMURF1

Genetic Association Database (GAD)
SMURF1
Human Genome Epidemiology (HuGE) Navigator
SMURF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMURF1
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 G.H. (Nature 1999) 2 3 4 64
  2. SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. (PMID: 23999003) Yoo J.C. … Yoon T.J. (J. Dermatol. Sci. 2013) 3 4 64
  3. Ndfip1 negatively regulates RIG-I-dependent immune signaling by enhancing E3 ligase Smurf1-mediated MAVS degradation. (PMID: 23087404) Wang Y. … Ye X. (J. Immunol. 2012) 3 4 64
  4. Pivotal role of the C2 domain of the Smurf1 ubiquitin ligase in substrate selection. (PMID: 21402695) Lu K. … He F. (J. Biol. Chem. 2011) 3 4 64
  5. SCF(FBXL15) regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1. (PMID: 21572392) Cui Y. … Zhang L. (EMBO J. 2011) 3 4 64

Products for SMURF1 Gene

Sources for SMURF1 Gene

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