TULP1 Gene Summary [Human]
This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]
Details
| Type | Protein Coding |
| Official Symbol | TULP1 |
| Official Name | TUB like protein 1 [Source:HGNC Symbol;Acc:HGNC:12423] |
| Ensembl ID | ENSG00000112041 |
| Bio databases IDs | |
| Aliases | TUB like protein 1 |
| Synonyms | LCA15, RP14, TUBL1, TUB like protein 1, Tulp1l |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TULP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Tub family
- actin filament binding
- transcription regulator
- phosphatidylinositol-4,5-bisphosphate binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- retinal dystrophy
- retinitis pigmentosa
- retinitis pigmentosa type 14
- Leber congenital amaurosis type 15
- autosomal recessive retinitis pigmentosa
- Dupuytren contracture
- spinocerebellar ataxia type 7
- Leber congenital amaurosis type 1
- COVID-19
role in cell
- number
- abnormal morphology
- electrophysiology
- development
- lack
- degeneration
- maintenance
- phagocytosis by
- enrichment in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- periactive zone
- Cytoplasm
- Extracellular Space
- Plasma Membrane
- cytosol
- connecting cilia
- nerve ending
- synapse
- photoreceptor outer segments
- photoreceptor inner segments
- cellular protrusions
- perikaryon
- axon terminals
- rod inner segments
- cone inner segments
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TULP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retina homeostasis
- detection of light stimulus involved in visual perception
- phagocytosis, recognition
- retina development in camera-type eye
- photoreceptor cell maintenance
- eye photoreceptor cell development
- positive regulation of phagocytosis
- visual perception
- dendrite development
Cellular Component
Where in the cell the gene product is active
- cilium
- cytosol
- synapse
- extracellular region
- photoreceptor inner segment
- cell projection
- plasma membrane
- axon terminus
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- phosphatidylinositol-4,5-bisphosphate binding
- protein binding