Human Gene TULP3 (ENST00000448120.7) from GENCODE V44
  Description: Homo sapiens TUB like protein 3 (TULP3), transcript variant 1, mRNA. (from RefSeq NM_003324)
RefSeq Summary (NM_003324): 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].
Gencode Transcript: ENST00000448120.7
Gencode Gene: ENSG00000078246.17
Transcript (Including UTRs)
   Position: hg38 chr12:2,890,891-2,941,138 Size: 50,248 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr12:2,890,948-2,939,444 Size: 48,497 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:2,890,891-2,941,138)mRNA (may differ from genome)Protein (442 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TULP3_HUMAN
DESCRIPTION: RecName: Full=Tubby-related protein 3; AltName: Full=Tubby-like protein 3;
FUNCTION: Negatively regulates SHH signal transduction (By similarity). Probably functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to phosphorylated inositide lipids.
INTERACTION: P20929:NEB; NbExp=2; IntAct=EBI-5357290, EBI-1049657; P12520:vpr (xeno); NbExp=2; IntAct=EBI-5357290, EBI-6164519;
SUBCELLULAR LOCATION: Nucleus. Cell membrane. Cell projection, cilium (By similarity). Cytoplasm (By similarity). Secreted (By similarity). Note=Does not have a cleavable signal peptide and is secreted by a non-conventional pathway (By similarity). Translocates from the plasma membrane to the nucleus upon activation of guanine nucleotide-binding protein G(q) subunit alpha.
TISSUE SPECIFICITY: Expressed at high levels in testis, ovaries, thyroid, and spinal chord.
SIMILARITY: Belongs to the TUB family.

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.86 RPKM in Ovary
Total median expression: 620.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.8057-0.312 Picture PostScript Text
3' UTR -476.471694-0.281 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000007 - Tubby_C
IPR025659 - Tubby_C-like
IPR018066 - Tubby_C_CS
IPR005398 - Tubby_N

Pfam Domains:
PF01167 - Tub family

ModBase Predicted Comparative 3D Structure on O75386
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0019899 enzyme binding
GO:0035091 phosphatidylinositol binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0001841 neural tube formation
GO:0001843 neural tube closure
GO:0006355 regulation of transcription, DNA-templated
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007275 multicellular organism development
GO:0007420 brain development
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway
GO:0008589 regulation of smoothened signaling pathway
GO:0009952 anterior/posterior pattern specification
GO:0021904 dorsal/ventral neural tube patterning
GO:0021914 negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning
GO:0021915 neural tube development
GO:0021953 central nervous system neuron differentiation
GO:0031076 embryonic camera-type eye development
GO:0042733 embryonic digit morphogenesis
GO:0045879 negative regulation of smoothened signaling pathway
GO:0048702 embryonic neurocranium morphogenesis
GO:0060173 limb development
GO:0060348 bone development
GO:0060434 bronchus morphogenesis
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:0061548 ganglion development
GO:0097500 receptor localization to non-motile cilium
GO:1901621 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:1903546 protein localization to photoreceptor outer segment

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0005930 axoneme
GO:0016020 membrane
GO:0042995 cell projection
GO:0097546 ciliary base
GO:0030991 intraciliary transport particle A


-  Descriptions from all associated GenBank mRNAs
  AK299990 - Homo sapiens cDNA FLJ60873 complete cds, highly similar to Tubby-related protein 3.
AK024246 - Homo sapiens cDNA FLJ14184 fis, clone NT2RP2005144, highly similar to Homo sapiens tubby like protein 3 (TULP3), mRNA.
AK307434 - Homo sapiens cDNA, FLJ97382.
AK293285 - Homo sapiens cDNA FLJ54520 complete cds, highly similar to Homo sapiens tubby like protein 3 (TULP3), mRNA.
AF045583 - Homo sapiens tubby like protein 3 (TULP3) mRNA, complete cds.
BC032587 - Homo sapiens tubby like protein 3, mRNA (cDNA clone MGC:45295 IMAGE:5501868), complete cds.
JD399400 - Sequence 380424 from Patent EP1572962.
CU689434 - Synthetic construct Homo sapiens gateway clone IMAGE:100019419 5' read TULP3 mRNA.
JF432804 - Synthetic construct Homo sapiens clone IMAGE:100074121 tubby like protein 3 (TULP3) gene, encodes complete protein.
KJ897716 - Synthetic construct Homo sapiens clone ccsbBroadEn_07110 TULP3 gene, encodes complete protein.
AB464323 - Synthetic construct DNA, clone: pF1KB7747, Homo sapiens TULP3 gene for tubby like protein 3, without stop codon, in Flexi system.
EU446713 - Synthetic construct Homo sapiens clone IMAGE:100069894; IMAGE:100011922; FLH257101.01L tubby like protein 3 (TULP3) gene, encodes complete protein.
JD375097 - Sequence 356121 from Patent EP1572962.
JD492656 - Sequence 473680 from Patent EP1572962.
JD438439 - Sequence 419463 from Patent EP1572962.
JD541514 - Sequence 522538 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75386 (Reactome details) participates in the following event(s):

R-HSA-5610726 The IFT-A complex recruits TULP3
R-HSA-5610725 TULP3 is required for GPR161 localization in the cilium
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5358351 Signaling by Hedgehog
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B3KNB7, D3DUQ4, ENST00000448120.1, ENST00000448120.2, ENST00000448120.3, ENST00000448120.4, ENST00000448120.5, ENST00000448120.6, NM_003324, O75386, Q8N5B0, TUBL3, TULP3_HUMAN, uc010seh.1, uc010seh.2, uc010seh.3
UCSC ID: ENST00000448120.7
RefSeq Accession: NM_003324
Protein: O75386 (aka TULP3_HUMAN or TUL3_HUMAN)
CCDS: CCDS8519.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.