TULP1

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.^[5][6][7]

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)[1] Band 6p21.31 Start 35,497,874 bp[1] End 35,512,896 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 A3.3 Start 28,570,489 bp[2] End 28,584,196 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 7287 22157 Ensembl ENSG00000112041 ENSMUSG00000037446 UniProt O00294 Q9Z273 RefSeq (mRNA) NM_003322 NM_001289395 NM_021478 RefSeq (protein) NP_001276324 NP_003313 NP_067453 Location (UCSC) Chr 6: 35.5 – 35.51 Mb Chr 17: 28.57 – 28.58 Mb PubMed search [3] [4]
Wikidata
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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]