| Type | Description |
|---|---|
| Definition | tubby like protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2018-02-03 11:55:00 | Pathogenic mutations in TULP1 are responsible for the retinitis pigmentosa phenotype in seven familial cases with a common ancestral mutation responsible for the disease phenotype in four of the seven families. | 27440997 |
| 2016-08-13 12:07:00 | photoreceptor degeneration caused by missense mutations via endoplasmic reticulum unfolded protein response | 26987071 |
| 2016-07-30 10:05:00 | This study highlights the value of the broad sequencing strategy of exome sequencing for disease gene identification in Leber congenital amaurosis, over other existing methods. | 24547928 |
| 2016-04-23 11:24:00 | Data suggest that mutant tubby like protein 1 (TULP1) proteins are misfolded and accumulate within the endoplasmic reticulum (ER) leading to induction of the unfolded protein response (UPR) stress response complex. | 26427415 |
| 2015-05-30 13:52:00 | The TULP1 allele p.Gln301* represents a founder mutation on the Arabian Peninsula and is associated with a recognisable congenital recessive rod-cone dystrophy phenotype in the homozygous state. | 25342276 |
| Type | IDs |
|---|---|
| Synonymous | LCA15, RP14, TUBL1 |
| Gene |
UniProtKB-ID:
TULP1_HUMAN,
F1T0I9_HUMAN,
Q0QD38_HUMAN
UniprotKB:
O00294,
F1T0I9,
Q0QD38
UniParc:
UPI000045742A,
UPI0000DB8BDB,
UPI0002003FE1,
UPI0000457429
EMBL:
AF034920,
U82468,
AB593123,
AF034922,
BC065261,
DQ426893,
AF034923,
AF034919,
AF034921,
BC032714,
AL033519
Ensembl:
ENSG00000112041
KO:
hsa:7287
|
| Nucleutide sequences |
EMBL-CDS:
AAB53700.1,
AAH65261.1,
AAH32714.1,
AAB97966.1,
BAJ84063.1,
ABD90544.1
Ensembl_TRS:
ENST00000322263,
ENST00000229771
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000319414,
ENSP00000229771
RefSeq:
NP_001276324.1,
NP_003313.3
|
| Others |
UniRef100:
UniRef100_F1T0I9,
UniRef100_O00294
UniRef90:
UniRef90_F1T0I9,
UniRef90_O00294
UniRef50:
UniRef50_O00294,
UniRef50_F1T0I9
UniGene:
Hs.485208
CCDS:
CCDS75436.1,
CCDS4807.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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