| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N- terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G- protein localization and trafficking in sensory neurons. Binds myristoylated NPHP3; however, in contrast to UNC119B, does not seem to play a major role in ciliary membrane localization of NPHP3. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells. SUBUNIT: Interacts with CABP4; in the absence of calcium. Interacts with ARL2 (By similarity). Found in a complex with ARL3, RP2 and UNC119; RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119. Interacts with NPHP3 (when myristoylated). Interacts with CYS1 (when myristoylated). Interacts with C5orf30; interaction only takes place when UNC119 is not liganded with myristoylated proteins. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q13432-1; Sequence=Displayed; Name=B; IsoId=Q13432-2; Sequence=VSP_004545; TISSUE SPECIFICITY: Retinal-specific. Localized in photoreceptor synapses in the outer plexiform layer of the retina. DOMAIN: Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that capture N-terminally myristoylated target peptides (PubMed:21642972). Phe residues within the hydrophobic beta sandwich are required for myristate binding (PubMed:22085962). DISEASE: Note=Defects in UNC119 may be a cause of cone-rod dystrophy. A mutation was found in a 57-year-old woman with late- onset cone-rod dystrophy: from 40 year old, the patient suffered from poor night vision, defective color vision and light- sensitivity. At 57 year old, she displayed reduced visual acuity, myopa, macular atrophy and pericentral ring scotomas. The disease was caused by a heterozygous mutation causing premature termination and truncated UNC119 protein with dominant-negative effect. SIMILARITY: Belongs to the PDE6D/unc-119 family. CAUTION: According to some authors, acts by extracting target proteins from membranes (PubMed:21642972). According to a another report, rather acts by targeting proteins to membranes (PubMed:22085962). GENE SYNONYMS:UNC119 RG4. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 240 AA; 26962 MW; 22FD19C3518A4446 CRC64;
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| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:12565,
urn:biopax:RelationshipXref:NCBI GENE_9094,
urn:biopax:RelationshipXref:REFSEQ_NP_005139,
urn:biopax:RelationshipXref:REFSEQ_NP_473376,
urn:biopax:UnificationXref:UNIPROT_A8K8G4,
urn:biopax:UnificationXref:UNIPROT_F1T095,
urn:biopax:UnificationXref:UNIPROT_O95126,
urn:biopax:UnificationXref:UNIPROT_Q13432
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| biopax3:displayName |
U119A_HUMAN
|
| biopax3:name |
Retinal protein 4,
UNC119,
hRG4
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MKVKKGGGGAGTATESAPGPSGQSVAPIPQPPAESESGSESEPDAGPGPRPGPLQRKQPIGPEDVLGLQRITGDYLCSPEENIYKIDFVRFKIRDMDSGTVLFEIKKPPVSERLPINRRDLDPNAGRFVRYQFTPAFLRLRQVGATVEFTVGDKPVNNFRMIERHYFRNQLLKSFDFHFGFCIPSSKNTCEHIYDFPPLSEELISEMIRHPYETQSDSFYFVDDRLVMHNKADYSYSGTP
|
| biopax3:standardName |
Protein unc-119 homolog A
|