TULP1
entrez
7287
canonical
uniprot
O00294
canonical
ensembl
ENSG00000112041
resolver
ensp
ENSP00000229771
resolver
ensp
ENSP00000319414
resolver
genesymbol
TULP1
resolver
genesymbol_syn
TUBL1
resolver
hgnc
HGNC:12423
resolver
uniprot
F1T0I9
resolver
uniprot
O43536
resolver
uniprot
Q0QD38
resolver
uniprot
Q5TGM5
resolver
uniprot
Q8N571
resolver
uniprot_entry
F1T0I9_HUMAN
resolver
uniprot_entry
Q0QD38_HUMAN
resolver
uniprot_entry
TULP1_HUMAN
resolver
uniprot_sec
O43536
resolver
uniprot_sec
Q5TGM5
resolver
uniprot_sec
Q8N571
resolver
amino_acid_sequence
MPLRDETLREVWASDSGHEEESLSPEAPRRPKQRPAPAQRLRKKRTEAPESPCPTGSKPRKPGAGRTGRPREEPSPDPAQARAPQTVYARFLRDPEAKKRDPRETFLVARAPDAEDEEEEEEEDEEDEEEEAEEKKEKILLPPKKPLREKSSADLKERRAKAQGPRGDLGSPDPPPKPLRVRNKEAPAGEGTKMRKTKKKGSGEADKDPSGSPASARKSPAAMFLVGEGSPDKKALKKKGTPKGARKEEEEEEEAATVIKKSNQKGKAKGKGKKKAKEERAPSPPVEVDEPREFVLRPAPQGRTVRCRLTRDKKGMDRGMYPSYFLHLDTEKKVFLLAGRKRKRSKTANYLISIDPTNLSRGGENFIGKLRSNLLGNRFTVFDNGQNPQRGYSTNVASLRQELAAVIYETNVLGFRGPRRMTVIIPGMSAENERVPIRPRNASDGLLVRWQNKTLESLIELHNKPPVWNDDSGSYTLNFQGRVTQASVKNFQIVHADDPDYIVLQFGRVAEDAFTLDYRYPLCALQAFAIALSSFDGKLACE
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 14 (RP14) [MIM:600132]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:15557452, ECO:0000269|PubMed:17620573, ECO:0000269|PubMed:19837063, ECO:0000269|PubMed:9462750, ECO:0000269|PubMed:9660588}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leber congenital amaurosis 15 (LCA15) [MIM:613843]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:17962469}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages. {ECO:0000250, ECO:0000269|PubMed:16303976, ECO:0000269|PubMed:19837063}.
uniprot
proteins
mass_dalton
60609
uniprot
proteins
protein_family
TUB family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15024725
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15557452
uniprot
proteins
pubmed
16303976
uniprot
proteins
pubmed
17620573
uniprot
proteins
pubmed
17962469
uniprot
proteins
pubmed
19837063
uniprot
proteins
pubmed
9096357
uniprot
proteins
pubmed
9462750
uniprot
proteins
pubmed
9462751
uniprot
proteins
pubmed
9660588
uniprot
proteins
sequence_length
542
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16303976}. Cell membrane {ECO:0000269|PubMed:16303976}; Peripheral membrane protein {ECO:0000269|PubMed:16303976}; Cytoplasmic side {ECO:0000269|PubMed:16303976}. Secreted {ECO:0000250}. Synapse {ECO:0000250}. Note=Detected at synapses between photoreceptor cells and second-order neurons. Does not have a cleavable signal peptide and is secreted by an alternative pathway (By similarity). {ECO:0000250}.
uniprot
proteins