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

Gene ID: 57154, updated on 6-Sep-2022

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
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Genomic context

See SMURF1 in Genome Data Viewer
Location:
7q22.1
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99027440..99144108, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100260765..100295159, complement)
105.20220307 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 uncharacterized LOC101927550 Neighboring gene RNF14 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 1794 Neighboring gene karyopherin subunit alpha 7 Neighboring gene Sharpr-MPRA regulatory region 10979 Neighboring gene Sharpr-MPRA regulatory region 10425

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

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

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
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 activin binding NAS
Non-traceable Author Statement
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 ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
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
PubMed 
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 cell surface 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 IBA
Inferred from Biological aspect of Ancestor
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 protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein ubiquitination IDA
Inferred from Direct Assay
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 SMAD protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ubiquitin-dependent SMAD protein catabolic process IDA
Inferred from Direct Assay
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
PubMed 
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
 
located_in 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
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_001199847.2NP_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, Q9UJT8
    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, ENST00000361368.7
    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 Annotation Release 110 details...Open this link in a new tab

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_017012457.2XP_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 ...
  2. XM_047420637.1XP_047276593.1  E3 ubiquitin-protein ligase SMURF1 isoform X2

    UniProtKB/TrEMBL
    D6W5S0
  3. XM_047420636.1XP_047276592.1  E3 ubiquitin-protein ligase SMURF1 isoform X2

    UniProtKB/TrEMBL
    D6W5S0
  4. XM_047420635.1XP_047276591.1  E3 ubiquitin-protein ligase SMURF1 isoform X2

    UniProtKB/TrEMBL
    D6W5S0

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..100295159 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)