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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44466 (e-PCR)
- UniSTS:90157

G20498 (e-PCR)
- UniSTS:20028

SGC33466 (e-PCR)
- UniSTS:38204

A005U06 (e-PCR)
- UniSTS:20029

D7S2062E (e-PCR)
- UniSTS:151117

WI-10648 (e-PCR)
- UniSTS:41087

HSC25H072 (e-PCR)
- UniSTS:67500

SHGC-58544 (e-PCR)
- UniSTS:94389

Smurf1 (e-PCR), detects polymorphism
- UniSTS:527557

SHGC-31299 (e-PCR)
- UniSTS:67275

D7S2149E (e-PCR)
- UniSTS:71143

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 more info	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

EC 2.3.2.26

NP_065162.1

EC 2.3.2.26

NP_851994.1

EC 2.3.2.26

XP_016867946.1

EC 2.3.2.26

XP_047276591.1

EC 2.3.2.26

XP_047276592.1

EC 2.3.2.26

XP_047276593.1

EC 2.3.2.26

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)

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 ...
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 ...
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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

99027440..99144108 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
XM_047420637.1 → XP_047276593.1 E3 ubiquitin-protein ligase SMURF1 isoform X2
XM_047420636.1 → XP_047276592.1 E3 ubiquitin-protein ligase SMURF1 isoform X2
XM_047420635.1 → XP_047276591.1 E3 ubiquitin-protein ligase SMURF1 isoform X2