TULP1 Gene
TUB like protein 1
Gene Information Card
| Symbol | TULP1 |
|---|---|
| Full Name | TUB like protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 7287 ncbi.nlm.nih.gov/gene/7287 |
| Ensembl ID | ENSG00000112041 |
| UniProt ID | O00294 |
| OMIM ID | 602280 |
| HGNC ID | 12423 |
| Aliases | TUBL1, RP14, LCA15 |
Description
TULP1 encodes a member of the tubby-like protein family (TULPs). This protein is expressed in the retinal pigment epithelium and photoreceptor cells, where it plays a critical role in photoreceptor function and survival. Mutations in TULP1 are associated with autosomal recessive retinitis pigmentosa (RP14) and Leber congenital amaurosis (LCA15).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 14 (RP14) | Loss of TULP1 function disrupts photoreceptor outer segment phagocytosis and trafficking, leading to progressive retinal degeneration. | ClinVar, OMIM |
| Leber congenital amaurosis 15 (LCA15) | Biallelic TULP1 mutations cause severe early-onset retinal dystrophy with photoreceptor dysfunction. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Testis | 1.2 | Low |
| Brain | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 8.3 | Moderate expression |
| Y79 (retinoblastoma) | 6.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1495C>T (p.Arg499Ter) | Nonsense | Rare | Loss of function; associated with RP14 |
| c.144C>A (p.Tyr48Ter) | Nonsense | Rare | Loss of function; associated with LCA15 |
| c.982G>A (p.Gly328Arg) | Missense | Rare | Likely loss of function; reported in RP14 |
Mutation functional classification
Loss of Function (LOF)
Most TULP1 mutations are loss-of-function (nonsense, frameshift, splice-site) leading to truncated or absent protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • photoreceptor cell maintenance | • phototransduction |
| • protein transport | • visual perception |
| • cilium assembly |
Pathways
• Photoreceptor cell maintenance
• Retinal metabolism
Protein Summary
TULP1 is a 542-amino acid protein containing a conserved tubby domain at the C-terminus. It localizes to the connecting cilium and inner segment of photoreceptors, facilitating protein trafficking and outer segment renewal. Loss of TULP1 leads to photoreceptor degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TULP1 Knockout HEK293 Cell Line | EDJ-KQ5981 | Human | 7287 | Details Get a Quote |
| TULP1 Knockout HeLa Cell Line | EDJ-KQ54707 | Human | 7287 | Details Get a Quote |
| TULP1 Knockout A-549 Cell Line | EDJ-KQ63195 | Human | 7287 | Details Get a Quote |
| TULP1 Knockout HCT 116 Cell Line | EDJ-KQ71666 | Human | 7287 | Details Get a Quote |
