Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function

scientific article

Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1091/MBC.E08-07-0710
P3181OpenCitations bibliographic resource ID1226057
P932PMC publication ID2649270
P698PubMed publication ID19116314

P2093author name stringMichael S Marks
Esteban C Dell'Angelica
Ilaria Palmisano
M Vittoria Schiaffino
Dawn C Harper
Rosanna Piccirillo
Anand Sitaram
P2860cites workAP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytesQ24291443
Pmel17 initiates premelanosome morphogenesis within multivesicular bodiesQ24291864
Recognition of dileucine-based sorting signals from HIV-1 Nef and LIMP-II by the AP-1 gamma-sigma1 and AP-3 delta-sigma3 hemicomplexesQ24302853
Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organellesQ24305081
SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesisQ24305304
Organization and sequence of the human P gene and identification of a new family of transport proteinsQ24317332
An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1Q24318501
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinismQ24320016
Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomesQ24323356
Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)Q24337584
BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organellesQ24337651
A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.Q24533159
A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactionsQ24597783
Melanosomes--dark organelles enlighten endosomal membrane transportQ24647195
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye colorQ24656429
Ca2+/calmodulin signals the completion of docking and triggers a late step of vacuole fusion.Q27935567
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1Q28140288
Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. OnlineQ28144505
The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pHQ28213415
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinaseQ28218945
Genetic determinants of hair, eye and skin pigmentation in EuropeansQ28254206
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expressionQ28263436
Genetic evidence for the convergent evolution of light skin in Europeans and East AsiansQ28279959
BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomesQ28513739
Signals for sorting of transmembrane proteins to endosomes and lysosomesQ29547469
Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulumQ29620019
Characterization and cloning of lgp110, a lysosomal membrane glycoprotein from mouse and rat cellsQ33850972
Lysosome-related organellesQ33956953
Interaction of melanosomal proteins with melanin.Q34295081
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle functionQ34485728
Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms.Q34603456
What's special about secretory lysosomes?Q34874744
Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17Q34886367
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo traffickingQ35129447
Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNAQ35201461
A lumenal domain-dependent pathway for sorting to intralumenal vesicles of multivesicular endosomes involved in organelle morphogenesisQ35594079
Vacuole acidification is required for trans-SNARE pairing, LMA1 release, and homotypic fusionQ35642673
The gamma/sigma1 and alpha/sigma2 hemicomplexes of clathrin adaptors AP-1 and AP-2 harbor the dileucine recognition siteQ35757401
Downregulation of CD4 by human immunodeficiency virus type 1 Nef is dependent on clathrin and involves direct interaction of Nef with the AP2 clathrin adaptor.Q35785393
Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) geneQ35958046
Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymesQ36119125
The cell biology of Hermansky-Pudlak syndrome: recent advancesQ36154718
Protein targeting by tyrosine- and di-leucine-based signals: evidence for distinct saturable componentsQ36237576
Glycosphingolipids are required for sorting melanosomal proteins in the Golgi complexQ36294101
Tyrosinase maturation through the mammalian secretory pathway: bringing color to lifeQ36371592
Intracellular sorting and targeting of melanosomal membrane proteins: identification of signals for sorting of the human brown locus protein, gp75Q36382701
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndromeQ36457840
Lysosome-related organelles: driving post-Golgi compartments into specialisationQ36880252
Pink-eyed dilution protein controls the processing of tyrosinase.Q39617200
Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism.Q39691845
Glycolipid-dependent sorting of melanosomal from lysosomal membrane proteins by lumenal determinantsQ39997440
The repeat domain of the melanosomal matrix protein PMEL17/GP100 is required for the formation of organellar fibersQ40282474
An N-terminal double-arginine motif maintains type II membrane proteins in the endoplasmic reticulumQ40791455
A cytoplasmic sequence in human tyrosinase defines a second class of di-leucine-based sorting signals for late endosomal and lysosomal deliveryQ40959249
The tyrosinase tail mediates sorting to the lysosomal compartment in MDCK cells via a di-leucine and a tyrosine-based signal.Q40990231
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequencesQ41143554
Production and characterization of the murine monoclonal antibody 2G10 to a human T4-tyrosinase epitopeQ41690147
The role of intraorganellar Ca(2+) in late endosome-lysosome heterotypic fusion and in the reformation of lysosomes from hybrid organellesQ42919564
Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2.Q43624874
p16(Ink4a) in melanocyte senescence and differentiation.Q52122428
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.Q54055357
Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.Q55043225
AP-1 and AP-3 Mediate Sorting of Melanosomal and Lysosomal Membrane Proteins into Distinct Post-Golgi Trafficking PathwaysQ58323010
Optimized assay for mammalian tyrosinase (polyhydroxyl phenyloxidase)Q70496433
Pink-eyed dilution (p) gene in rodents: Increased pigmentation in tissue cultureQ72563030
Melanosomal pH, pink locus protein and their roles in melanogenesisQ74153070
Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytesQ74347101
Melanosomal defects in melanocytes from mice lacking expression of the pink-eyed dilution gene: correction by culture in the presence of excess tyrosineQ74378374
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectcell biologyQ7141
OCA2 melanosomal transmembrane proteinQ21126879
P304page(s)1464-77
P577publication date2009-03-01
P1433published inMolecular Biology of the CellQ2338259
P1476titleLocalization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function
P478volume20

Reverse relations

cites work (P2860)
Q64117228A case report for severe hand-foot skin reaction caused by chemotherapy with actinomycin D in a patient with oculocutaneous albinism
Q42571327A melanosomal two-pore sodium channel regulates pigmentation
Q35594393A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice
Q24308858AP-1 and KIF13A coordinate endosomal sorting and positioning during melanosome biogenesis
Q33886501Adaptation of human skin color in various populations
Q36310137Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 gene
Q34454090An intracellular anion channel critical for pigmentation
Q33828680Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival
Q27310758BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery
Q58450115Biogenesis of Melanosomes
Q36161681Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes
Q28589863Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
Q34762915Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation
Q38175526Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation
Q37849841How are proliferation and differentiation of melanocytes regulated?
Q26865756Human pigmentation genes under environmental selection
Q50448818Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community
Q37060715Lysosome-related organelles: unusual compartments become mainstream
Q35936316Mechanisms of protein delivery to melanosomes in pigment cells.
Q36788313PMEL: a pigment cell-specific model for functional amyloid formation
Q35604075Pleiotropic platelet defects in mice with disrupted FOG1-NuRD interaction
Q34443721Single-nucleotide polymorphisms in pigment genes and nonmelanoma skin cancer predisposition: a systematic review.
Q34359204Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells
Q39010107Storage pool diseases illuminate platelet dense granule biogenesis
Q24307848Structural and functional similarities of calcium homeostasis modulator 1 (CALHM1) ion channel with connexins, pannexins, and innexins
Q36931154TPC2 controls pigmentation by regulating melanosome pH and size
Q36961713The PKD domain distinguishes the trafficking and amyloidogenic properties of the pigment cell protein PMEL and its homologue GPNMB.
Q37726402The melanocortin-1 receptor gene polymorphism and association with human skin cancer.
Q28237643Update on the regulation of mammalian melanocyte function and skin pigmentation
Q47073180oca2 Regulation of chromatophore differentiation and number is cell type specific in zebrafish

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