Tulp3 TUB like protein 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tulp3provided by MGI
Official Full Name: TUB like protein 3provided by MGI
Primary source: MGI:MGI:1329045
See related: Ensembl:ENSMUSG00000001521 AllianceGenome:MGI:1329045
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 2310022L06Rik
Summary: Predicted to enable several functions, including enzyme binding activity; intraciliary transport particle A binding activity; and phosphatidylinositol binding activity. Involved in protein localization to cilium. Acts upstream of or within several processes, including nervous system development; regulation of signal transduction; and skeletal system development. Located in axoneme. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and respiratory system. Used to study polycystic kidney disease. Orthologous to human TULP3 (TUB like protein 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 15.2), ovary adult (RPKM 13.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 F3; 6 62.96 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (128298103..128332833, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (128321140..128355873, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in Ciliary Trafficking Genes affect Sonic Hedgehog-dependent Neural Tube Patterning Differentially along the Anterior-Posterior Axis.
Title: Mutations in Ciliary Trafficking Genes affect Sonic Hedgehog-dependent Neural Tube Patterning Differentially along the Anterior-Posterior Axis.
Tulp3 controls distinct ciliary pathways that positively or negatively regulate cystogenesis depending on the cellular context.
Title: Tulp3 Is a Ciliary Trafficking Gene that Regulates Polycystic Kidney Disease.
Embryonic-stage, nephron-specific Tulp3 knockout mice developed cystic kidneys, while retaining intact cilia.
Title: Tulp3 Regulates Renal Cystogenesis by Trafficking of Cystoproteins to Cilia.
loss of Zfp423 alters expression of several genes encoding key cilium components, including increased expression of Tulp3. Tulp3 is a direct binding target of Zfp423 and reducing the overexpression of Tulp3 in Zfp423-deficient cells suppresses Smoothened translocation defects.
Title: Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function.
Tubby-like protein 3 (TULP3) binds to the IFT-A complex
Title: TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia.
This work uncovers a novel role for Tulp3 as a negative regulatory factor in the hedgehog pathway.
Title: Tulp3 is a critical repressor of mouse hedgehog signaling.
Tulp3 is a novel negative regulator of the Shh pathway.
Title: Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway.
TULP3 is required proper for Shh-dependent limb patterning.
Title: Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signaling.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (1)
Gene trapped (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126589 (e-PCR)
- UniSTS:209708

D11Bhm20 (e-PCR), detects polymorphism
- UniSTS:141619

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

RH126252 (e-PCR)
- UniSTS:162960

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	ISO Inferred from Sequence Orthology more info	PubMed
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables intraciliary transport particle A binding	ISO Inferred from Sequence Orthology more info	PubMed
enables intraciliary transport particle A binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bronchus morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within central nervous system neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dorsal/ventral neural tube patterning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic neurocranium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ganglion development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within limb development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of smoothened signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cilium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to cilium	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within regulation of G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info	PubMed
involved_in regulation of G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in 9+0 non-motile cilium	ISO Inferred from Sequence Orthology more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary base	ISO Inferred from Sequence Orthology more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	ISO Inferred from Sequence Orthology more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: tubby-related protein 3

Names: tubby-like protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.