TULP3 - TUB like protein 3 Gene

Homo sapiens

Also known as HRCDF; TUBL3

Gene ID: 7289 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15272	TULP3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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