Full name: tubby like protein 1

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: Tulp1l

Summary: Predicted to enable actin filament binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in dendrite development; eye photoreceptor cell development; and photoreceptor cell maintenance. Acts upstream of or within phagocytosis, recognition; protein localization to photoreceptor outer segment; and retina development in camera-type eye. Located in several cellular components, including axon terminus; photoreceptor inner segment; and photoreceptor outer segment. Used to study retinitis pigmentosa 14. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 15; retinitis pigmentosa; and retinitis pigmentosa 14. Orthologous to human TULP1 (TUB like protein 1). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Biased expression in placenta adult (RPKM 2.3), lung adult (RPKM 1.4) and 10 other tissues

Gene size: 13702bp

Exon count: 16