Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7287
MIM: 602280
HGNC: 12423
Ensembl: ENSG00000112041
Variants:
dbSNP: 7287
ClinVar: 7287
TCGA: ENSG00000112041
COSMIC: TULP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112041 | ENST00000229771 | O00294 |
| ENSG00000112041 | ENST00000322263 | O00294 |
| ENSG00000112041 | ENST00000428978 | Q5TGM7 |
| ENSG00000112041 | ENST00000614066 | A0A087WT25 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36128853 | 2023 | Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG. | 2 |
| 36128853 | 2023 | Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG. | 2 |
| 34865612 | 2022 | TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases. | 4 |
| 34865612 | 2022 | TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases. | 4 |
| 33907372 | 2021 | A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa. | 8 |
| 33907372 | 2021 | A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa. | 8 |
| 26427415 | 2016 | TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR). | 5 |
| 26987071 | 2016 | Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration. | 14 |
| 27440997 | 2016 | Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. | 10 |
| 26427415 | 2016 | TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR). | 5 |
| 26987071 | 2016 | Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration. | 14 |
| 27440997 | 2016 | Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. | 10 |
| 24547928 | 2015 | Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. | 9 |
| 25342276 | 2015 | A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. | 7 |
| 24547928 | 2015 | Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. | 9 |
Citation
Dessen P
TULP1 (TUB like protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75377/tulp1-(tub-like-protein-1)
