TULP1

TULP1
Identifiers
Aliases	TULP1, LCA15, RP14, TUBL1, tubby like protein 1, TUB like protein 1
External IDs	OMIM: 602280; MGI: 109571; GeneCards: TULP1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2FIM, 3C5N
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
Databases	NCBI: entry; OMA: entry
	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.^[5]^[6]^[7]

AliasesTULP1, LCA15, RP14, TUBL1, tubby like protein 1, TUB like protein 1

External IDsOMIM: 602280; MGI: 109571; GeneCards: TULP1

PDBOrtholog search: PDBe RCSB

Chr.Chromosome 6 (human)^[1]

Quick facts Identifiers, Aliases ...

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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.^[7]

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TULP1

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Related Articles

"Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases"

"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)"

"Mapping of transcription start sites of human retina expressed genes"

"Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis"