InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TULP1

Summary

InnateDB Protein

IDBP-84191.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TULP1

Protein Name

tubby like protein 1

Synonyms

LCA15; RP14; TUBL1;

Species

Homo sapiens

Ensembl Protein

ENSP00000229771

InnateDB Gene

IDBG-84185 (TULP1)

Protein Structure

UniProt Annotation

Function

Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long- term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4- phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages. {ECO:0000250, ECO:0000269PubMed:16303976, ECO:0000269PubMed:19837063}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:16303976}. Cell membrane {ECO:0000269PubMed:16303976}; Peripheral membrane protein {ECO:0000269PubMed:16303976}; Cytoplasmic side {ECO:0000269PubMed:16303976}. Secreted {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Detected at synapses between photoreceptor cells and second-order neurons. Does not have a cleavable signal peptide and is secreted by an alternative pathway (By similarity). {ECO:0000250}.

Disease Associations

Retinitis pigmentosa 14 (RP14) [MIM:600132]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:15557452, ECO:0000269PubMed:17620573, ECO:0000269PubMed:9462750, ECO:0000269PubMed:9660588}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leber congenital amaurosis 15 (LCA15) [MIM:613843]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:15024725, ECO:0000269PubMed:17962469}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Retina-specific.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding
GO:0008020	G-protein coupled photoreceptor activity
GO:0051015	actin filament binding

Biological Process

GO:0001895	retina homeostasis
GO:0006909	phagocytosis
GO:0007601	visual perception
GO:0007602	phototransduction
GO:0009584	detection of visible light
GO:0016358	dendrite development
GO:0042462	eye photoreceptor cell development
GO:0045494	photoreceptor cell maintenance
GO:0050766	positive regulation of phagocytosis
GO:0050908	detection of light stimulus involved in visual perception
GO:0060041	retina development in camera-type eye

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0001917	photoreceptor inner segment
GO:0005576	extracellular region
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0030054	cell junction
GO:0042995	cell projection
GO:0045202	synapse