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This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]
STUB1 (STIP1 Homology And U-Box Containing Protein 1) is a Protein Coding gene. Diseases associated with STUB1 include Spinocerebellar Ataxia, Autosomal Recessive 16 and Spinocerebellar Ataxia 48. Among its related pathways are Signaling by GPCR and Signaling by ERBB2. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ligase activity. An important paralog of this gene is RPAP3.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH16J000676 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | -0.7 | -723 | 5.8 | SP1 HNRNPL PRDM10 ZNF629 TFE3 RFX1 IKZF1 ZNF692 POLR2A BACH1 | LINC02867 ENSG00000279441 STUB1 WDR90 WASH4P ENSG00000260051 RHOT2 WFIKKN1 WDR24 CHTF18 | |
GH16J000682 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 0.7 | +4.0 | 3995 | 2.5 | SP1 HNRNPL CREB1 PRDM10 ZNF629 RFX1 ZNF692 POLR2A BACH1 TARDBP | JMJD8 piR-35819 lnc-WDR24-1 piR-39280 piR-46110 LUC7L CRAMP1 UBE2I TELO2 ENSG00000268836 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001664 | G protein-coupled receptor binding | IPI | 12150907 |
GO:0004842 | ubiquitin-protein transferase activity | IEA,TAS | 16307917 |
GO:0005515 | protein binding | IEA,IPI | 11146632 |
GO:0016740 | transferase activity | IEA | -- |
GO:0019899 | enzyme binding | IPI | 16280320 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000151 | ubiquitin ligase complex | IDA | 12150907 |
GO:0005634 | nucleus | IEA,ISS | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA,ISS | -- |
GO:0005783 | endoplasmic reticulum | IDA | 12150907 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Signaling by ERBB2 | ||
3 | TGF-beta receptor signaling activates SMADs | ||
4 | Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway |
Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
.97
|
|
5 | Regulation of degradation of deltaF508 CFTR in CF |
Regulation of degradation of deltaF508 CFTR in CF
.58
|
Regulation of degradation of wt-CFTR
.58
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | IMP | 19713937 |
GO:0002931 | response to ischemia | ISS | -- |
GO:0006281 | DNA repair | IEA | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | ISS | 18292230 |
GO:0006515 | protein quality control for misfolded or incompletely synthesized proteins | IDA | 16831871 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | STUB1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | STUB1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | STUB1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | STUB1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Stub1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Stub1 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | STUB1 30 |
|
||
gga-mir-6643 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | STUB1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | stub1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.3752 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | stub1 30 31 |
|
OneToOne | |
wufc22f04 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11175 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008918 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CHIP 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | chn-1 30 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CHIP 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0113300 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU10270 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.522 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
783725 | Benign: not provided | 682,049(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
791553 | Conflicting Interpretations: not provided | 681,318(+) | G/A | MISSENSE_VARIANT | |
807330 | Uncertain Significance: not provided | 680,626(+) | A/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
807331 | Likely Pathogenic: not provided | 681,596(+) | CG/C | FRAMESHIFT_VARIANT | |
807332 | Likely Pathogenic: not provided | 682,168(+) | C/T | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4825n54 | CNV | loss | 21841781 |
esv2422427 | CNV | duplication | 17116639 |
nsv1160325 | CNV | duplication | 26073780 |
nsv1160326 | CNV | duplication | 26073780 |
nsv457310 | CNV | loss | 19166990 |
nsv457311 | CNV | loss | 19166990 |
nsv471063 | CNV | loss | 18288195 |
nsv471065 | CNV | gain | 18288195 |
nsv482181 | CNV | gain | 20164927 |
nsv482182 | CNV | gain | 20164927 |
nsv516590 | CNV | loss | 19592680 |
nsv526903 | CNV | loss | 19592680 |
nsv571012 | CNV | loss | 21841781 |
nsv571016 | CNV | loss | 21841781 |
nsv827480 | CNV | gain | 20364138 |
nsv9321 | CNV | gain+loss | 18304495 |
nsv952898 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia, autosomal recessive 16 |
|
|
spinocerebellar ataxia 48 |
|
|
gordon holmes syndrome |
|
|
cerebellar ataxia type 48 |
|
|
autosomal recessive cerebellar ataxia |
|
|