ID:HPS3_HUMAN DESCRIPTION: RecName: Full=Hermansky-Pudlak syndrome 3 protein; FUNCTION: Involved in early stages of melanosome biogenesis and maturation (By similarity). SUBCELLULAR LOCATION: Cytoplasm (By similarity). TISSUE SPECIFICITY: Widely expressed. Higher levels of expression are observed in kidney, liver and placenta. DISEASE: Defects in HPS3 are the cause of Hermansky-Pudlak syndrome type 3 (HPS3) [MIM:614072]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. SEQUENCE CAUTION: Sequence=AAH16901.1; Type=Erroneous initiation; Sequence=AAH22062.2; Type=Erroneous initiation; Sequence=BAB71221.1; Type=Erroneous initiation; WEB RESOURCE: Name=Mutations of the HPS3 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/hps3mut.htm"; WEB RESOURCE: Name=Albinism database (ADB); Note=HPS3 mutations; URL="http://albinismdb.med.umn.edu/hps3mut.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HPS3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q969F9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
