Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
TUB (TUB Bipartite Transcription Factor) is a Protein Coding gene. Diseases associated with TUB include Retinal Dystrophy And Obesity and Retinitis Pigmentosa. Among its related pathways are Presynaptic function of Kainate receptors and Transcription_Transcription factor Tubby signaling pathways. Gene Ontology (GO) annotations related to this gene include G protein-coupled photoreceptor activity. An important paralog of this gene is TULP3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001664 | G protein-coupled receptor binding | IDA | 28154160 |
GO:0044877 | protein-containing complex binding | IDA | 20889716 |
GO:0120160 | intraciliary transport particle A binding | IDA | 28154160 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005634 | nucleus | IDA | 28154160 |
GO:0005737 | cytoplasm | IDA | 28154160 |
GO:0005829 | cytosol | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Presynaptic function of Kainate receptors |
G-Protein Signaling through Tubby Protein
.37
|
|
2 | Transcription_Transcription factor Tubby signaling pathways |
Transcription_Transcription factor Tubby signaling pathways
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006909 | phagocytosis | IEA | -- |
GO:0006910 | phagocytosis, recognition | IEA | -- |
GO:0007605 | sensory perception of sound | IEA | -- |
GO:0008277 | regulation of G protein-coupled receptor signaling pathway | IEA | -- |
GO:0009725 | response to hormone | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
(1R,2R,3S,4R,6S)-3,4,6-Trihydroxy-5-{[(S)-hydroxy(3-hydroxy-2-oxopropoxy)phosphoryl]oxy}-1,2-cyclohexanediyl bis[dihydrogen (phosphate)] | Experimental | Pharma | Target | 0 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TUB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TUB 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tub 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tub 30 |
|
||
Cow (Bos Taurus) |
Mammalia | TUB 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TUB 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TUB 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TUB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TUB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tub 30 |
|
||
Str.12141 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | TUB 31 |
|
OneToOne | |
tub 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tulp 32 |
|
|
|
king-tubby 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | tub-1 30 31 32 |
|
OneToMany | |
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.6835 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0351400 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.13886 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715959 | Likely Benign: not provided | 8,100,819(+) | C/G | INTRON_VARIANT | |
717299 | Likely Benign: not provided | 8,038,907(+) | GTTTC/G | FRAMESHIFT_VARIANT | |
717347 | Benign: not provided | 8,100,867(+) | G/A | SYNONYMOUS_VARIANT | |
719025 | Benign: not provided | 8,100,592(+) | C/T | SYNONYMOUS_VARIANT | |
719156 | Likely Benign: not provided | 8,094,116(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinal dystrophy and obesity |
|
|
retinitis pigmentosa |
|
|
multidrug-resistant tuberculosis |
|
|
usher syndrome, type i |
|
|
fundus dystrophy |
|
|