TULP1 - TUB like protein 1 Gene

Also Known as RP14; LCA15; TUBL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7287

About TULP1

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:35,497,874-35,512,896 (from NCBI)

This gene has 8 transcripts (splice variants), 206 orthologues, 5 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in Plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]

TULP1 Products (2)

mRNA	Protein	Name
NM_001289395.2	NP_001276324.1	tubby-related protein 1 isoform 2
NM_003322.6	NP_003313.3	tubby-related protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin filament binding	IDA IDA: Inferred from direct assay	16303976	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	16303976	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17474147	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in detection of light stimulus involved in visual perception	IMP IMP: Inferred from mutant phenotype	15557452	GOA
involved in positive regulation of phagocytosis	IDA IDA: Inferred from direct assay	19837063	GOA
involved in retina homeostasis	IMP IMP: Inferred from mutant phenotype	15557452	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell projection	IDA IDA: Inferred from direct assay	16303976	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	16303976	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

TULP1 Protein Structure

Tub

0
100
200
300
400
500
542 a.a.

Protein Preferred Names	Protein Names
tubby-related protein 1	tubby like protein 1

Recombinant TULP1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P701074	Tulp1 Protein, Human (His)	O00294-2 (M1-E489)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Leber Congenital Amaurosis 15	LCA15 Leber Congenital Amaurosis, Type 15
Retinitis Pigmentosa 14	RP14 Retinitis Pigmentosa Juvenile Tulp1-Related Retinitis Pigmentosa-14 Retinitis Pigmentosa, Type 14
Leber Congenital Amaurosis 1	LCA1 Amaurosis Congenita Of Leber I Lca Retinal Blindness, Congenital Crb Leber Congenital Amaurosis Type I Leber Congenital Amaurosis, Type 1 Amaurosis Congenita Of Leber, Type 1
Retinal Degeneration	Degeneration Of Retina
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
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
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Brachydactyly
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Polydactyly, Postaxial, Type A1	Postaxial Polydactyly Type A Polydactyly, Postaxial Postaxial Polydactyly PAPA1 Postaxial Polydactyly, Type A Papa Polydactyly, Postaxial, Types A1 And B Postaxial Polydactyly Type B Polydactyly Postaxial Polydactyly, Postaxial A1 Polydactyly, Postaxial B PAPB Postaxial Polydactyly, Type A1/B Polydactyly, Postaxial, Type A Pyogenic Arthritis, Pyoderma Gangrenosum And Acne Postaxial Polydactyly, Type B
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Stargardt Disease 1	Fundus Flavimaculatus STGD1 Retinal Dystrophy, Early-Onset Severe Macular Dystrophy With Flecks, Type 1 Stargardt'S Disease Stgd Macular Degeneration, Juvenile Macular Degeneration Juvenile FFM Juvenile Macular Degeneration Macular Dystrophy With Flecks Type 1 Early Onset And Severe Retinal Dystrophy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis
Leber Congenital Amaurosis 9	LCA9 Leber Congenital Amaurosis, Type 9
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Leber Congenital Amaurosis 6	LCA6 Leber Congenital Amaurosis, Type 6
Leber Congenital Amaurosis 8	LCA8 Leber Congenital Amaurosis, Type 8
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Leber Congenital Amaurosis 11	LCA11 Leber Congenital Amaurosis, Type 11
Pseudoretinitis Pigmentosa	Secondary Pigmentary Retinal Degeneration Secondary Pigmentary Degeneration Of Retina
Leber Congenital Amaurosis 13	LCA13 Retinitis Pigmentosa 53 RP53 Leber Congenital Amaurosis, Type 13
Acquired Night Blindness
Leber Congenital Amaurosis 14	LCA14 Retinitis Pigmentosa, Juvenile, Lrat-Related Retinal Dystrophy, Early-Onset Severe Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa Juvenile Lrat-Related Severe Early-Onset Retinal Dystrophy Lrat-Related Retinal Dystrophy, Early-Onset Severe, Lrat-Related Leber Congenital Amaurosis, Type 14
Leber Congenital Amaurosis 2	LCA2 Amaurosis Congenita Of Leber Ii Amaurosis Congenita Of Leber, Type 2 Leber Congenital Amaurosis Type Ii Leber Congenital Amaurosis, Type 2 Leber Congenital Amaurosis, Type Ii
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	HJMD Congenital Hypotrichosis With Juvenile Macular Dystrophy Hypotrichosis With Cone-Rod Dystrophy Hypotrichosis With Juvenile Macular Dystrophy Juvenile Macular Degeneration And Hypotrichosis Juvenile Macular Dystrophy And Congenital Hypotrichosis Hypotrichosis With Juvenile Macular Degeneration Hypotrichosis Congenital With Juvenile Macular Dystrophy
Retinitis Pigmentosa 22	RP22 Retinitis Pigmentosa-22
Leber Congenital Amaurosis 16	LCA16 Leber Congenital Amaurosis, Type 16
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
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
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Eye Degenerative Disease
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Retinitis Pigmentosa 26	RP26 Retinitis Pigmentosa-26 Retinitis Pigmentosa, Type 26
Night Blindness	Nyctalopia
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Nanophthalmos	Nanophthalmia
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15270	TULP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TULP1	RGD	RGD:1311062
Felis catus	TULP1	VGNC	VGNC:66710
Canis familiaris	TULP1	VGNC	VGNC:58340
Macaca mulatta	TULP1	VGNC	VGNC:78676
Bos taurus	TULP1	VGNC	VGNC:36519
Mus musculus	TULP1	MGD	MGI:109571
Others	TULP1	NCBI