General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Housekeeping proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
12
Cytoband
p13.33
Chromosome location (bp)
2877223 - 2941138
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Protein-protein adapter that drives transport of G protein-coupled receptors into primary cilia by mediating association between the intraflagellar transport complex A (IFT-A) and G protein-coupled receptors FFAR4, GPR45 and GPR161 1,2,3,4. Acts as a negative regulator of the Shh signaling by promoting trafficking of GPR161 to cilia 5,6. During adipogenesis, regulates ciliary trafficking of FFAR4 in preadipocytes 7. Promotes transport of GPR45 into primary cilia of neurons in paraventricular nucleus (PVN) of the hypothalamus (By similarity). Binds to phosphorylated inositide (phosphoinositide) lipids; both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking 8,9. Besides its role in cilium localization, acts as a regulator of AMP-activated protein kinase (AMPK) activity in response to calorie restriction: binds lithocholic acid, a metabolite generated in response to calorie restriction, promoting TULP3 ability to activate SIRT1, which then deacetylates the ATP6V1E1 subunit of the V-ATPase complex, leading to (1) V-ATPase complex inhibition on lysosomes and (2) AMPK activation via the AXIN1-STK11/LKB1 axis (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Housekeeping proteins Housekeeping in single cell types Housekeeping in tissues Housekeeping in single nuclei brain Housekeeping in cell lines Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Housekeeping proteins Housekeeping in single cell types Housekeeping in tissues Housekeeping in single nuclei brain Housekeeping in cell lines Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Housekeeping proteins Housekeeping in single cell types Housekeeping in tissues Housekeeping in single nuclei brain Housekeeping in cell lines Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Housekeeping proteins Housekeeping in single cell types Housekeeping in tissues Housekeeping in single nuclei brain Housekeeping in cell lines Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Housekeeping proteins Housekeeping in single cell types Housekeeping in tissues Housekeeping in single nuclei brain Housekeeping in cell lines Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Show all
137 aa
15.6 kDa
No
0
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