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
  • phosphatidylinositol-3-phosphate
  • phosphatidylinositol-4-phosphate
  • phosphatidylinositol-5-phosphate
  • phosphatidylinositol-3,4-bisphosphate
  • phosphatidylinositol-4,5-bisphosphate
  • phosphatidylinositol-3,4,5-triphosphate
  • phosphatidylserine
  • 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

More general terms

• tub family protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7287
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7287
• OMIM: https://mirror.omim.org/entry/600132
• OMIM: https://mirror.omim.org/entry/602280
• UniProt: http://www.uniprot.org/uniprot/O00294.html