Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures
Basic Information
Protein Name :  Tubby-related protein 1  

UniProtKB / Swiss-Prot ID :  TULP1_HUMAN

Gene Name (Synonyms) : 
TULP1, TUBL1  

Species :  Homo sapiens (Human). 

Subcellular Localization :  Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Secreted (By similarity). Cell junction, synapse (By similarity). Note=Detected at synapses between photoreceptor cells and second-order neurons. Does not have a cleavable signal pe 

Protein 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. 

Protein Sequence MPLRDETLREVWASDSGHEEESLSPEAPRRPKQRPAPAQRLRKKRTEAPESPCPTGSKPRKPGAGRTGRP...
Predicted Secondary Structure CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC...
Protein Variant
LocationDescription
67T -> R (in dbSNP:rs7764472). VAR_008274
120Missing (in RP14). VAR_013310
245A -> V (in RP14). VAR_008275
259I -> T (in dbSNP:rs2064317). VAR_008276
261K -> N (in dbSNP:rs2064318). VAR_034575
261K -> T (in RP14). VAR_008277
368G -> W (in LCA15). VAR_065500
378R -> H (in RP14). VAR_008278
382F -> S (in RP14). VAR_037584
400R -> W (in LCA15). VAR_065501
420R -> P (in RP14; no effect on RPEphagocytosis).
454T -> M (in RP14). VAR_008279
459I -> K (in RP14; no effect on RPEphagocytosis).
482R -> W (in RP14). VAR_065502
489K -> R (in RP14; abolishes RPEphagocytosis).
491F -> L (in RP14; abolishes RPEphagocytosis).
496A -> T (in RP14; uncertainpathogenicity).
529A -> AFA (in LCA15). VAR_065503
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Overview of Protein Modification Sites with Functional and Structural Information
Accessible Surface Area (ASA)
Pred. Secondary
Real Secondary
Disorder Prediction
Protein Domain
&
Experimental PTM Sites
Predicted PTM Sites
Protein Variant
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Experimental Post-Translational Modification Sites Download
Locations
Modification
Substrate Sites
&
Secondary Structure
Accessible Surface Area (%)
Resource
Reference
Structural Characterization
Orthologous
Protein Cluster
200N6-acetyllysineKTKKKGSGE
CCCCCCCCC
60.92Phosphositeplus
Link-
260N6-acetyllysineATVIKKSNQ
CCCCCCCCC
45.90Phosphositeplus
Link-
273N6-acetyllysineKGKGKKKAK
CCCCCCCCC
55.37Phosphositeplus
Link-
347PhosphothreonineKRSKTANYL
CCCCCEEEE
22.75Phosphositeplus
Link
350PhosphotyrosineKTANYLISI
CCEEEEEEE
11.71Phosphositeplus
Link
357PhosphothreonineSIDPTNLSR
EECCCCCCC
45.07Phosphositeplus
Link
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
There are no Protein-Protein Interactions.
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Disease Reference
Kegg disease
H00527 Retinitis pigmentosa (RP)
H00837 Leber congenital amaurosis (LCR)
OMIM disease
600132Retinitis pigmentosa 14 (RP14)
613843Leber congenital amaurosis 15 (LCA15)
Drug Reference
There are no disease associations of PTM sites.
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Related Literatures of Post-Translational Modification
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures