dbPAF Protein Information

Tag Content
dbPAF ID dbPAF-0000058
Uniprot Accession O00294; TULP1_HUMAN; O43536; Q5TGM5; Q8N571;
Genbank Protein ID NP_001276324.1; NP_003313.3;
Genbank Nucleotide ID NM_001289395.1; NM_003322.4;
Protein Name Tubby-related protein 1
Protein Synonyms/Alias Tubby-like protein 1;
Gene Name TULP1
Gene Synonyms/Alias TUBL1;
Organism Homo sapiens(Human)
NCBI Taxa ID 9606
Functional Description
(View all)		 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.
Phosphorylation Sites
 dbPAF PTMs: 5
PositionPeptidesSourceReferences ( PMIDs )
202RKTKKKGSGEADKDPPhosphoSitePlus22135298
347RKRKRSKTANYLISIdbPTM 3.0;PhosphoSitePlus;curated18180459; 16381945; 23193290; 22135298; 22817900
350KRSKTANYLISIDPTdbPTM 3.0;PhosphoSitePlus;curated18180459; 16381945; 23193290; 22135298; 22817900
357YLISIDPTNLSRGGEdbPTM 3.0;PhosphoSitePlus;curated18180459; 16381945; 23193290; 22135298; 22817900
422FRGPRRMTVIIPGMSPhosphoSitePlus22135298
Sequence
(Fasta)		MPLRDETLRE VWASDSGHEE ESLSPEAPRR PKQRPAPAQR LRKKRTEAPE SPCPTGSKPR 60
KPGAGRTGRP REEPSPDPAQ ARAPQTVYAR FLRDPEAKKR DPRETFLVAR APDAEDEEEE 120
EEEDEEDEEE EAEEKKEKIL LPPKKPLREK SSADLKERRA KAQGPRGDLG SPDPPPKPLR 180
VRNKEAPAGE GTKMRKTKKK GSGEADKDPS GSPASARKSP AAMFLVGEGS PDKKALKKKG 240
TPKGARKEEE EEEEAATVIK KSNQKGKAKG KGKKKAKEER APSPPVEVDE PREFVLRPAP 300
QGRTVRCRLT RDKKGMDRGM YPSYFLHLDT EKKVFLLAGR KRKRSKTANY LISIDPTNLS 360
RGGENFIGKL RSNLLGNRFT VFDNGQNPQR GYSTNVASLR QELAAVIYET NVLGFRGPRR 420
MTVIIPGMSA ENERVPIRPR NASDGLLVRW QNKTLESLIE LHNKPPVWND DSGSYTLNFQ 480
GRVTQASVKN FQIVHADDPD YIVLQFGRVA EDAFTLDYRY PLCALQAFAI ALSSFDGKLA 540
CE 543
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0965--Cell junction
KW-1003--Cell membrane
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0225--Disease mutation
KW-0901--Leber congenital amaurosis
KW-0472--Membrane
KW-0581--Phagocytosis
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0682--Retinitis pigmentosa
KW-0964--Secreted
KW-0716--Sensory transduction
KW-0770--Synapse
KW-0844--Vision
Interpro

IPR000007--Tubby_C
IPR025659--Tubby_C-like
IPR018066--Tubby_C_CS
PROSITE

PS01200--TUB_1
PS01201--TUB_2
Pfam

PF01167--Tub
Gene Ontology

GO:0043679--C:axon terminus
GO:0030054--C:cell junction
GO:0042995--C:cell projection
GO:0005929--C:cilium
GO:0005829--C:cytosol
GO:0005576--C:extracellular region
GO:0001917--C:photoreceptor inner segment
GO:0001750--C:photoreceptor outer segment
GO:0005886--C:plasma membrane
GO:0045202--C:synapse
GO:0051015--F:actin filament binding
GO:0005546--F:phosphatidylinositol-4,5-bisphosphate binding
GO:0016358--P:dendrite development
GO:0050908--P:detection of light stimulus involved in visual perception
GO:0042462--P:eye photoreceptor cell development
GO:0006910--P:phagocytosis, recognition
GO:0045494--P:photoreceptor cell maintenance
GO:0050766--P:positive regulation of phagocytosis
GO:1903546--P:protein localization to photoreceptor outer segment
GO:0097500--P:receptor localization to nonmotile primary cilium
GO:0060041--P:retina development in camera-type eye
GO:0001895--P:retina homeostasis
GO:0007601--P:visual perception