| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Involved in early stages of melanosome biogenesis and maturation (By similarity). SUBCELLULAR LOCATION: Cytoplasm (By similarity). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q969F9-1; Sequence=Displayed; Name=2; IsoId=Q969F9-2; Sequence=VSP_003878, VSP_003879; Note=No experimental confirmation available; 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"; GENE SYNONYMS:HPS3. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 1004 AA; 113736 MW; ECA8FDF6AE37B47A CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:15597,
urn:biopax:RelationshipXref:NCBI GENE_84343,
urn:biopax:RelationshipXref:REFSEQ_NP_115759,
urn:biopax:UnificationXref:UNIPROT_A8K6G6,
urn:biopax:UnificationXref:UNIPROT_Q8WTV6,
urn:biopax:UnificationXref:UNIPROT_Q969F9,
urn:biopax:UnificationXref:UNIPROT_Q96AP1,
urn:biopax:UnificationXref:UNIPROT_Q96MR3,
urn:biopax:UnificationXref:UNIPROT_Q9H608
|
| biopax3:displayName |
HPS3_HUMAN
|
| biopax3:name |
HPS3
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFSTLGRVLRLAYSEAGDYLVAIEEKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEGPFSKAFRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFSLKYQIINEEFSLLDFERSLIIHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNGERVHHHPHKTNNRIRRTEEGISNEISQLESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPDISSYVLSDDIKLHSLQLLPIYQTGSLTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKSVELMSVYQYPEKSQQAVLTPQFLHVITSNNLQCFTVRCSAAAAREEDPYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRQSPKRLLSRKDTSVKIKIPPVAEAGWNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEAHLLVRAALMDASQLEPGEKAELLEAFKESCGHLGDCYSRLDSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQKYERGLIFYINHSLYENLDEELNEELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILVTLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVDFWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVHVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTRLKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSSLKETLSIVAVELELKDFMNVLPEDGTATFFLPYLLYCSRKKPLT
|
| biopax3:standardName |
Hermansky-Pudlak syndrome 3 protein
|