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Aliases for TULP3 Gene

Aliases for TULP3 Gene

  • Tubby Like Protein 3 2 3
  • Tubby-Like Protein 3 3 4
  • TUBL3 3 4

External Ids for TULP3 Gene

Previous GeneCards Identifiers for TULP3 Gene

  • GC12P002872
  • GC12P003000
  • GC12P002987
  • GC12P002989

Summaries for TULP3 Gene

Entrez Gene Summary for TULP3 Gene

  • 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]

GeneCards Summary for TULP3 Gene

TULP3 (Tubby Like Protein 3) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog. GO annotations related to this gene include enzyme binding and phosphatidylinositol binding. An important paralog of this gene is TUB.

UniProtKB/Swiss-Prot for TULP3 Gene

  • Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TULP3 Gene

Genomics for TULP3 Gene

Regulatory Elements for TULP3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TULP3 Gene

Chromosome:
12
Start:
2,877,223 bp from pter
End:
2,941,140 bp from pter
Size:
63,918 bases
Orientation:
Plus strand

Genomic View for TULP3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TULP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TULP3 Gene

Proteins for TULP3 Gene

  • Protein details for TULP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75386-TULP3_HUMAN
    Recommended name:
    Tubby-related protein 3
    Protein Accession:
    O75386
    Secondary Accessions:
    • B3KNB7
    • B7Z6A2
    • D3DUQ4
    • F8WBZ9
    • Q8N5B0

    Protein attributes for TULP3 Gene

    Size:
    442 amino acids
    Molecular mass:
    49642 Da
    Quaternary structure:
    • Associates with the IFT complex A (IFT-A)

    Alternative splice isoforms for TULP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TULP3 Gene

Proteomics data for TULP3 Gene at MOPED

Post-translational modifications for TULP3 Gene

  • Ubiquitination at Lys 245, Lys 277, and Lys 316
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for TULP3 Gene

Domains & Families for TULP3 Gene

Protein Domains for TULP3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75386

UniProtKB/Swiss-Prot:

TULP3_HUMAN :
  • Belongs to the TUB family.
Family:
  • Belongs to the TUB family.
genes like me logo Genes that share domains with TULP3: view

No data available for Gene Families for TULP3 Gene

Function for TULP3 Gene

Molecular function for TULP3 Gene

GENATLAS Biochemistry:
tubby-like protein 3,expressed in testis,ovary,thyroid,spinal cord,brain,and in retina,at a moderate level,only in the inner nuclear and ganglion cell layers
UniProtKB/Swiss-Prot Function:
Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis.

Gene Ontology (GO) - Molecular Function for TULP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22190034
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding NAS 11375483
GO:0019899 enzyme binding IPI 23382074
GO:0032403 protein complex binding IDA 20889716
GO:0035091 phosphatidylinositol binding IDA 20889716
genes like me logo Genes that share ontologies with TULP3: view
genes like me logo Genes that share phenotypes with TULP3: view

Animal Model Products

miRNA for TULP3 Gene

miRTarBase miRNAs that target TULP3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TULP3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TULP3 Gene

Localization for TULP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TULP3 Gene

Nucleus. Cell membrane. Cell projection, cilium. Cytoplasm. Secreted. 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. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TULP3 Gene COMPARTMENTS Subcellular localization image for TULP3 gene
Compartment Confidence
nucleus 5
plasma membrane 5
extracellular 3

Gene Ontology (GO) - Cellular Components for TULP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus NAS 11375483
GO:0005730 nucleolus IDA --
GO:0005886 plasma membrane NAS 11375483
GO:0005929 cilium IDA 20889716
genes like me logo Genes that share ontologies with TULP3: view

Pathways & Interactions for TULP3 Gene

genes like me logo Genes that share pathways with TULP3: view

Pathways by source for TULP3 Gene

3 Reactome pathways for TULP3 Gene

Gene Ontology (GO) - Biological Process for TULP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001841 neural tube formation --
GO:0001843 neural tube closure IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 11375483
GO:0007186 G-protein coupled receptor signaling pathway NAS 11375483
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with TULP3: view

No data available for SIGNOR curated interactions for TULP3 Gene

Drugs & Compounds for TULP3 Gene

No Compound Related Data Available

Transcripts for TULP3 Gene

Unigene Clusters for TULP3 Gene

Tubby like protein 3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TULP3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TULP3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13
SP1: -
SP2: - -
SP3: - - - - - - - -
SP4:
SP5: -

Relevant External Links for TULP3 Gene

GeneLoc Exon Structure for
TULP3
ECgene alternative splicing isoforms for
TULP3

Expression for TULP3 Gene

mRNA expression in normal human tissues for TULP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TULP3 Gene

This gene is overexpressed in Ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TULP3 Gene



SOURCE GeneReport for Unigene cluster for TULP3 Gene Hs.655333

mRNA Expression by UniProt/SwissProt for TULP3 Gene

O75386-TULP3_HUMAN
Tissue specificity: Expressed at high levels in testis, ovaries, thyroid, and spinal chord.
genes like me logo Genes that share expression patterns with TULP3: view

Protein tissue co-expression partners for TULP3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for TULP3 Gene

Orthologs for TULP3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TULP3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TULP3 35
  • 75.13 (n)
  • 72.11 (a)
TULP3 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TULP3 35
  • 80.76 (n)
  • 78.18 (a)
TULP3 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tulp3 35
  • 74.17 (n)
  • 72.73 (a)
Tulp3 16
Tulp3 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tulp3 35
  • 71.74 (n)
  • 67.95 (a)
oppossum
(Monodelphis domestica)
Mammalia TULP3 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TULP3 36
  • 58 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TULP3 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves TULP3 35
  • 69.09 (n)
  • 66.59 (a)
TULP3 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TULP3 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tulp3 35
  • 63.79 (n)
  • 62.7 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC566221 35
  • 62.77 (n)
  • 62.84 (a)
TULP3 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tulp 37
  • 50 (a)
king-tubby 35
  • 53.61 (n)
  • 49.01 (a)
king-tubby 36
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011959 35
  • 58.81 (n)
  • 57.14 (a)
worm
(Caenorhabditis elegans)
Secernentea tub-1 37
  • 48 (a)
tub-1 36
  • 40 (a)
OneToMany
corn
(Zea mays)
Liliopsida Zm.3378 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToMany
Species with no ortholog for TULP3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TULP3 Gene

ENSEMBL:
Gene Tree for TULP3 (if available)
TreeFam:
Gene Tree for TULP3 (if available)

Paralogs for TULP3 Gene

Paralogs for TULP3 Gene

(3) SIMAP similar genes for TULP3 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for TULP3 Gene

genes like me logo Genes that share paralogs with TULP3: view

Variants for TULP3 Gene

Sequence variations from dbSNP and Humsavar for TULP3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs740766 -- 2,905,842(-) CCCCA(A/C/T)CCATG intron-variant
rs758615 -- 2,922,666(-) AAAGA(A/G)ACAAA intron-variant
rs998813 -- 2,940,336(+) AAAAA(A/G)AAGGT intron-variant, utr-variant-3-prime
rs998814 -- 2,940,532(+) CAGAA(C/T)GTATC missense, reference, utr-variant-3-prime
rs1034945 -- 2,908,501(-) agagc(A/G)agatc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TULP3 Gene

Variant ID Type Subtype PubMed ID
dgv19n68 CNV Loss 17160897
nsv832311 CNV Loss 17160897
esv2648236 CNV Deletion 19546169
nsv470261 CNV Loss 18288195
nsv579 CNV Insertion 18451855

Variation tolerance for TULP3 Gene

Residual Variation Intolerance Score: 78.27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.31; 70.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TULP3 Gene

HapMap Linkage Disequilibrium report
TULP3
Human Gene Mutation Database (HGMD)
TULP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TULP3 Gene

Disorders for TULP3 Gene

Relevant External Links for TULP3

Genetic Association Database (GAD)
TULP3
Human Genome Epidemiology (HuGE) Navigator
TULP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TULP3
genes like me logo Genes that share disorders with TULP3: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TULP3 Gene

Publications for TULP3 Gene

  1. Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans. (PMID: 9828123) Nishina P.M. … Naggert J.K. (Genomics 1998) 2 23 67
  2. Molecular cloning, expression and regulation of the avian tubby-like protein 1 (tulp1) gene. (PMID: 11483369) HeikenwAolder M.F. … Zenke M. (Gene 2001) 23 67
  3. GFP-tagged expression and immunohistochemical studies to determine the subcellular localization of the tubby gene family members. (PMID: 11000483) He W. … Naggert J.K. (Brain Res. Mol. Brain Res. 2000) 23 67
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  5. Computational analyses reveal a prognostic impact of TULP3 as a transcriptional master regulator in pancreatic ductal adenocarcinoma. (PMID: 24668219) Sartor I.T. … Moreira J.C. (Mol Biosyst 2014) 67

Products for TULP3 Gene

Sources for TULP3 Gene

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