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tubby-related protein 1; tubby-like protein 1 (TULP1, TUBL1)
Function:
- required for normal development of photoreceptor synapses
- required for normal photoreceptor function & for long-term survival of photoreceptor cells
- interacts with cytoskeleton proteins & may play a role in protein transport in photoreceptor cells (putative)
- binds lipids (in vitro), especially
a) phosphatidylinositol-3-phosphate
b) phosphatidylinositol-4-phosphate
c) phosphatidylinositol-5-phosphate
d) phosphatidylinositol-3,4-bisphosphate
e) phosphatidylinositol-4,5-bisphosphate
f) phosphatidylinositol-3,4,5-triphosphate
g) phosphatidylserine
h) phosphatidic acid
- role in stimulating phagocytosis of apoptotic retinal pigment epithelium (RPE) cells & macrophages
- may interact with ABCF1, PSIP1, ZEB1 & HMGB2 (putative)
- interacts with DNM1 (put- ative)
- interacts with F-actin
- interacts with TUB (putative)
Structure:
- homodimer (probable)
- belongs to the TUB family
Compartment:
- cytoplasm. cell membrane
- peripheral membrane, cytoplasmic side
- secreted (putative)
- cell junction, synapse (putative)
- detected at synapses between photoreceptor cells & second-order neurons
- does not have a cleavable signal peptide & is secreted by an alternative pathway (putative)
Alternative splicing: named isoforms=2
Expression: retina-specific
Pathology:
- mutations associated with retinitis pigmentosa type 14
General
tub family protein
Properties
SIZE: entity length = 542 aa
MW = 61 kD
COMPARTMENT: cytoplasm
MOTIF: glutamate-rich region {115-131}
MOTIF: glutamate residue (SEVERAL)
glutamate-rich region {248-254}
MOTIF: glutamate residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 602280
UniProt O00294
Pfam PF01167
Entrez Gene 7287
Kegg hsa:7287
References
- UniProt :accession O00294
- Entrez Gene :accession 7287
- Mutations of the TULP1 gene;
Note: Retina International's scientific newsletter
http://www.retina-international.com/sci-news/tulpmut.htm
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TULP1