TULP3 - TUB like protein 3 Gene

Also Known as HRCDF; TUBL3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7289

About TULP3

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:2,890,891-2,941,138 (from NCBI)

This gene has 8 transcripts (splice variants), 200 orthologues and 5 paralogues. Ubiquitous expression in ovary (RPKM 20.1), endometrium (RPKM 13.4) and 23 other tissues.

Summary

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]

TULP3 Products (2)

mRNA	Protein	Name
NM_001160408.2	NP_001153880.1	tubby-related protein 3 isoform 2
NM_003324.5	NP_003315.2	tubby-related protein 3 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables G protein-coupled receptor binding	IDA IDA: Inferred from direct assay	28154160	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	23382074	GOA
enables intraciliary transport particle A binding	IDA IDA: Inferred from direct assay	20889716	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	20889716	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22190034	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	20889716	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in negative regulation of smoothened signaling pathway	IDA IDA: Inferred from direct assay	20889716	GOA
acts upstream of or within protein localization to cilium	IDA IDA: Inferred from direct assay	28154160	GOA
acts upstream of or within protein localization to cilium	IGI IGI: Inferred from genetic interaction	27727273	GOA
acts upstream of or within protein localization to cilium	IMP IMP: Inferred from mutant phenotype	27727273	GOA
acts upstream of or within regulation of G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	28154160	GOA
involved in regulation of G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	20889716	GOA
acts upstream of or within regulation of G protein-coupled receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	28154160	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in 9+0 non-motile cilium	IDA IDA: Inferred from direct assay	20889716	GOA
located in ciliary base	IDA IDA: Inferred from direct assay	20889716	GOA
located in cilium	IDA IDA: Inferred from direct assay	20889716	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20889716	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	28154160	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TULP3 Protein Structure

Tub

0
100
200
300
400
442 a.a.

Protein Preferred Names	Protein Names
tubby-related protein 3	tubby like protein 3

TULP3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	TULP3	O75386	ANKRD54	Homo sapiens	Q6NXT1	Y2H Array	32296183
Intra	TULP3	O75386	ANKRD54	Homo sapiens	Q6NXT1	Validated Y2H	32296183
Intra	TULP3	O75386	ANKRD54	Homo sapiens	Q6NXT1	Anti Tag CoIP	33961781
Intra	TULP3	O75386	ANKRD54	Homo sapiens	Q6NXT1	Y2H Prey Pooling	32296183
Intra	TULP3	O75386	ANKRD54	Homo sapiens	Q6NXT1	Anti Tag CoIP	28514442
Intra	TULP3	O75386	KRTAP10-5	Homo sapiens	P60370	Y2H Prey Pooling	25416956
Intra	TULP3	O75386	KRTAP10-7	Homo sapiens	P60409	Y2H Array	25416956
Intra	TULP3	O75386	MAGEA6	Homo sapiens	P43360	Y2H Array	32296183
Intra	TULP3	O75386	MAGEA6	Homo sapiens	P43360	Y2H Prey Pooling	25416956
Intra	TULP3	O75386	MAGEA6	Homo sapiens	P43360	Y2H Prey Pooling	32296183
Intra	TULP3	O75386	MAGEA6	Homo sapiens	P43360	Validated Y2H	25416956
Intra	TULP3	O75386	MAGEA6	Homo sapiens	P43360	Validated Y2H	32296183
Intra	TULP3	O75386	PSTPIP1	Homo sapiens	O43586	Y2H Prey Pooling	32296183
Intra	TULP3	O75386	PSTPIP1	Homo sapiens	O43586	Y2H Array	25416956
Intra	TULP3	O75386	PSTPIP1	Homo sapiens	O43586	Y2H Array	32296183
Intra	TULP3	O75386	ROPN1	Homo sapiens	Q9HAT0	Validated Y2H	25416956
Intra	TULP3	O75386	ROPN1	Homo sapiens	Q9HAT0	Y2H Prey Pooling	25416956
Intra	TULP3	O75386	BACH2	Homo sapiens	Q9BYV9	Anti Tag CoIP	33961781
Intra	TULP3	O75386	BACH2	Homo sapiens	Q9BYV9	Y2H Prey Pooling	32296183
Intra	TULP3	O75386	BACH2	Homo sapiens	Q9BYV9	Anti Tag CoIP	28514442
Intra	TULP3	O75386	BACH2	Homo sapiens	Q9BYV9	Validated Y2H	32296183
Intra	TULP3	O75386	BACH2	Homo sapiens	Q9BYV9	Y2H Array	32296183
Intra	TULP3	O75386	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	TULP3	O75386	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Cross	TULP3	O75386	vpr	Human immunodeficiency virus	P12520	Pull Down	22190034

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hepatorenocardiac Degenerative Fibrosis	HRCDF
Spina Bifida Occulta
Joubert Syndrome 22	JBTS22 Joubert Syndrome, Type 22
Fraser Syndrome 2	FRASRS2
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Nephronophthisis 12	NPHP12 Joubert Syndrome 11 JBTS11 Nephronophthisis, Type 12
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Weyers Acrofacial Dysostosis	Curry-Hall Syndrome Weyers Acrodental Dysostosis WAD Acrodental Dysostosis Of Weyers Acrofacial Dysostosis, Weyers Type Acrofacial Dysostosis Of Weyers Curry Hall Syndrome
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS15272	TULP3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TULP3	MGD	MGI:1329045
Canis familiaris	TULP3	VGNC	VGNC:47998
Macaca mulatta	TULP3	VGNC	VGNC:78677
Rattus norvegicus	TULP3	RGD	RGD:1585259
Bos taurus	TULP3	VGNC	VGNC:36521
Felis catus	TULP3	VGNC	VGNC:66712
Others	TULP3	NCBI