Human Gene TUB (ENST00000299506.3_8) from GENCODE V47lift37
  Description: TUB bipartite transcription factor, transcript variant 2 (from RefSeq NM_177972.3)
Gencode Transcript: ENST00000299506.3_8
Gencode Gene: ENSG00000166402.9_9
Transcript (Including UTRs)
   Position: hg19 chr11:8,102,758-8,127,790 Size: 25,033 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr11:8,103,058-8,123,166 Size: 20,109 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:8,102,758-8,127,790)mRNA (may differ from genome)Protein (506 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TUB_HUMAN
DESCRIPTION: RecName: Full=Tubby protein homolog;
FUNCTION: Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.
SUBUNIT: Interacts with GNAQ (By similarity). Interacts with TULP1 (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity). Secreted (By similarity). Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Note=Binds phospholipid and is anchored to the plasma membrane through binding phosphatidylinositol 4,5-bisphosphate. Is released upon activation of phospholipase C. Translocates from the plasma membrane to the nucleus upon activation of guanine nucleotide- binding protein G(q) subunit alpha. Does not have a cleavable signal peptide and is secreted by a non-conventional pathway (By similarity).
SIMILARITY: Belongs to the TUB family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TUB
Diseases sorted by gene-association score: retinal dystrophy and obesity* (1078), retinitis pigmentosa* (37), retinitis pigmentosa 14 (9), deafness, autosomal recessive 26 (8), obesity (7), signet ring cell adenocarcinoma (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.62 RPKM in Pituitary
Total median expression: 146.44 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 -165.00300-0.550 Picture PostScript Text
3' UTR -1594.204624-0.345 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
PF16322 - Tubby N-terminal

SCOP Domains:
54518 - Tubby C-terminal domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1S31 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P50607
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0035091 phosphatidylinositol binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0006909 phagocytosis
GO:0006910 phagocytosis, recognition
GO:0007605 sensory perception of sound
GO:0009725 response to hormone
GO:0045494 photoreceptor cell maintenance
GO:0050766 positive regulation of phagocytosis
GO:0050896 response to stimulus
GO:0060041 retina development in camera-type eye
GO:0097500 receptor localization to non-motile cilium
GO:1903546 protein localization to photoreceptor outer segment

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC036400 - Homo sapiens tubby homolog (mouse), mRNA (cDNA clone IMAGE:5264087).
AB977724 - Homo sapiens mRNA for T cell receptor beta chain V-D-J-region, partial cds, isolate: N(2)-TRB40.
AK293528 - Homo sapiens cDNA FLJ60427 complete cds, highly similar to Tubby protein homolog.
U82467 - Human tub homolog (TUB) mRNA, complete cds.
BC075031 - Homo sapiens tubby homolog (mouse), mRNA (cDNA clone MGC:104164 IMAGE:30915625), complete cds.
BC075032 - Homo sapiens tubby homolog (mouse), mRNA (cDNA clone MGC:104008 IMAGE:30915418), complete cds.
EU446711 - Synthetic construct Homo sapiens clone IMAGE:100069937; IMAGE:100011920; FLH257060.01L tubby homolog (mouse) (TUB) gene, encodes complete protein.
U54644 - Human tub homolog mRNA, complete cds.
DQ570072 - Homo sapiens piRNA piR-30184, complete sequence.
AB209618 - Homo sapiens mRNA for tubby isoform b variant protein.
JD153983 - Sequence 135007 from Patent EP1572962.
JD294699 - Sequence 275723 from Patent EP1572962.
JD544677 - Sequence 525701 from Patent EP1572962.
JD540639 - Sequence 521663 from Patent EP1572962.
JD470796 - Sequence 451820 from Patent EP1572962.
JD537481 - Sequence 518505 from Patent EP1572962.
JD063963 - Sequence 44987 from Patent EP1572962.
JD192328 - Sequence 173352 from Patent EP1572962.
JD543513 - Sequence 524537 from Patent EP1572962.
JD419589 - Sequence 400613 from Patent EP1572962.
JD444024 - Sequence 425048 from Patent EP1572962.
JD336893 - Sequence 317917 from Patent EP1572962.
JD175565 - Sequence 156589 from Patent EP1572962.
JD096235 - Sequence 77259 from Patent EP1572962.
JD343094 - Sequence 324118 from Patent EP1572962.
JD240801 - Sequence 221825 from Patent EP1572962.
JD484370 - Sequence 465394 from Patent EP1572962.
JD530460 - Sequence 511484 from Patent EP1572962.
JD275794 - Sequence 256818 from Patent EP1572962.
JD078269 - Sequence 59293 from Patent EP1572962.
JD292764 - Sequence 273788 from Patent EP1572962.
JD497632 - Sequence 478656 from Patent EP1572962.
JD065758 - Sequence 46782 from Patent EP1572962.
JD241468 - Sequence 222492 from Patent EP1572962.
JD279021 - Sequence 260045 from Patent EP1572962.
JD210931 - Sequence 191955 from Patent EP1572962.
JD084750 - Sequence 65774 from Patent EP1572962.
JD187103 - Sequence 168127 from Patent EP1572962.
JD094439 - Sequence 75463 from Patent EP1572962.
JD219554 - Sequence 200578 from Patent EP1572962.
JD364797 - Sequence 345821 from Patent EP1572962.
JD197314 - Sequence 178338 from Patent EP1572962.
JD246404 - Sequence 227428 from Patent EP1572962.
JD124358 - Sequence 105382 from Patent EP1572962.
JD328326 - Sequence 309350 from Patent EP1572962.
JD307805 - Sequence 288829 from Patent EP1572962.
JD183488 - Sequence 164512 from Patent EP1572962.
JD276651 - Sequence 257675 from Patent EP1572962.
JD292503 - Sequence 273527 from Patent EP1572962.
DQ581558 - Homo sapiens piRNA piR-49670, complete sequence.
JD308063 - Sequence 289087 from Patent EP1572962.
JD521746 - Sequence 502770 from Patent EP1572962.
DQ578725 - Homo sapiens piRNA piR-46837, complete sequence.
JD046900 - Sequence 27924 from Patent EP1572962.
JD258691 - Sequence 239715 from Patent EP1572962.
JD323238 - Sequence 304262 from Patent EP1572962.
JD052913 - Sequence 33937 from Patent EP1572962.
JD462097 - Sequence 443121 from Patent EP1572962.
JD184513 - Sequence 165537 from Patent EP1572962.
DQ581306 - Homo sapiens piRNA piR-49418, complete sequence.
JD360817 - Sequence 341841 from Patent EP1572962.
JD263151 - Sequence 244175 from Patent EP1572962.
JD206618 - Sequence 187642 from Patent EP1572962.
JD360052 - Sequence 341076 from Patent EP1572962.
JD221932 - Sequence 202956 from Patent EP1572962.
JD132439 - Sequence 113463 from Patent EP1572962.
DQ577240 - Homo sapiens piRNA piR-45352, complete sequence.
JD494731 - Sequence 475755 from Patent EP1572962.
JD523887 - Sequence 504911 from Patent EP1572962.
JD283737 - Sequence 264761 from Patent EP1572962.
JD494273 - Sequence 475297 from Patent EP1572962.
JD202619 - Sequence 183643 from Patent EP1572962.
JD214501 - Sequence 195525 from Patent EP1572962.
JD117966 - Sequence 98990 from Patent EP1572962.
JD320220 - Sequence 301244 from Patent EP1572962.
JD080768 - Sequence 61792 from Patent EP1572962.
JD453973 - Sequence 434997 from Patent EP1572962.
JD205283 - Sequence 186307 from Patent EP1572962.
JD554385 - Sequence 535409 from Patent EP1572962.
JD376661 - Sequence 357685 from Patent EP1572962.
JD549167 - Sequence 530191 from Patent EP1572962.
JD233490 - Sequence 214514 from Patent EP1572962.
JD338460 - Sequence 319484 from Patent EP1572962.
JD023585 - Sequence 4609 from Patent EP1572962.
JD035485 - Sequence 16509 from Patent EP1572962.
JD031214 - Sequence 12238 from Patent EP1572962.
JD209193 - Sequence 190217 from Patent EP1572962.
JD250902 - Sequence 231926 from Patent EP1572962.
JD348807 - Sequence 329831 from Patent EP1572962.
JD309544 - Sequence 290568 from Patent EP1572962.
JD067831 - Sequence 48855 from Patent EP1572962.
JD359501 - Sequence 340525 from Patent EP1572962.
JD300636 - Sequence 281660 from Patent EP1572962.
JD305819 - Sequence 286843 from Patent EP1572962.
JD042383 - Sequence 23407 from Patent EP1572962.
JD110937 - Sequence 91961 from Patent EP1572962.
JD111560 - Sequence 92584 from Patent EP1572962.
JD418559 - Sequence 399583 from Patent EP1572962.
JD150587 - Sequence 131611 from Patent EP1572962.
JD254293 - Sequence 235317 from Patent EP1572962.
JD071734 - Sequence 52758 from Patent EP1572962.
JD265402 - Sequence 246426 from Patent EP1572962.
JD039570 - Sequence 20594 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_tubbyPathway - G-Protein Signaling Through Tubby Proteins

-  Other Names for This Gene
  Alternate Gene Symbols: D3DQU4, ENST00000299506.1, ENST00000299506.2, NM_177972, O00293, P50607, Q6B007, TUB_HUMAN, uc317mke.1, uc317mke.2
UCSC ID: ENST00000299506.3_8
RefSeq Accession: NM_177972.3
Protein: P50607 (aka TUB_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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