TULP1

TULP1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2FIM, 3C5N
Identifiers
Aliases	TULP1, LCA15, RP14, TUBL1, tubby like protein 1, TUB like protein 1
External IDs	OMIM: 602280; MGI: 109571; HomoloGene: 2491; GeneCards: TULP1; OMA:TULP1 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	35,512,896 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	28,584,196 bp
RNA expression pattern
	Top expressed in
	gonad; ; retinal pigment epithelium; ; sural nerve; ; ventricular zone; ; left uterine tube; ; body of uterus; ; vagina; ; ectocervix; ; skin of leg; ; prostate;
	Top expressed in
	neural layer of retina; ; retinal pigment epithelium; ; pineal gland; ; epithelium of lens; ; parotid gland; ; submandibular gland; ; corneal stroma; ; otic vesicle; ; lacrimal gland; ; left lung lobe;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; phosphatidylinositol-4,5-bisphosphate binding; actin filament binding; phosphatidylinositol binding;
Cellular component	cytoplasm; axon terminus; cytosol; cell projection; membrane; photoreceptor inner segment; plasma membrane; photoreceptor outer segment; synapse; cilium; extracellular region; cell junction;
Biological process	positive regulation of phagocytosis; response to stimulus; dendrite development; protein localization to photoreceptor outer segment; detection of light stimulus involved in visual perception; receptor localization to non-motile cilium; retina homeostasis; retina development in camera-type eye; eye photoreceptor cell development; phagocytosis; phagocytosis, recognition; photoreceptor cell maintenance; vesicle-mediated transport; visual perception; protein localization to cilium;
	Sources:Amigo / QuickGO
Orthologs
	7287
	22157
	ENSG00000112041
	ENSMUSG00000037446
	O00294
	Q9Z273
	NM_003322; NM_001289395
	NM_021478
	NP_001276324; NP_003313
	NP_067453
	Wikidata
View/Edit Human	View/Edit Mouse

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.

TULP1 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates.

The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. TULP1 is a candidate gene for retinitis pigmentosa-14 (RP). Mutation in TULP1 is a rare cause of recessive RP and TULP1 plays an essential role in the physiology of photoreceptors.