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

Gene ID: 57154, updated on 26-Oct-2020

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
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

Genomic context

See SMURF1 in Genome Data Viewer
Location:
7q22.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (99027435..99144118, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98625058..98741743, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene small Cajal body-specific RNA 28 Neighboring gene microRNA 3609 Neighboring gene transformation/transcription domain associated protein Neighboring gene uncharacterized LOC101927550 Neighboring gene RNF14 pseudogene 3 Neighboring gene karyopherin subunit alpha 7 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

Associated conditions

Description Tests
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

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

Homology

Clone Names

  • KIAA1625

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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
    Q9HCE7
    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, ENST00000361368.6
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    99027435..99144118 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012457.1XP_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 ...

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_017852929.1 Reference GRCh38.p13 PATCHES

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