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Search results 701 to 735 out of 735 for Tyrp1

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0.024s

Type

Details

Score

Publication

17632576 | -

First Author:	Syrzycka M
Year:	2007
Journal:	Genome
Title:	The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene.
Volume:	50
Issue:	6
Pages:	548-56

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Protein Domain

IPR017218 | BLOC-2_complex_Hps6_subunit

Type:

Family

Description:

Lysosome-related organelles comprise a group of specialised intracellular compartments that include melanosomes and platelet dense granules in mammals and eye pigment granules in insects. Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis. Genes associated with HPS encode subunits of three complexes that are known as biogenesis of lysosome-related organelles complex (BLOC)-1, -2 and -3 []. There are eight known HPS proteins of the BLOCs [, ]]. Organelles affected in HPS include the melanosome, resulting in hypopigmentation, and the platelet delta (dense) granule, resulting in prolonged bleeding times. HPS in humans or mice is caused by mutations in any of 15 genes, five of which encode subunits BLOC-1. BLOC-1 and BLOC-2 act sequentially in the same pathway. Melanosome maturation requires at least two cargo transport pathways directly from early endosomes to melanosomes. One pathway mediated by AP-3, and one pathway mediated by BLOC-1 and BLOC-2 []. The adaptor protein AP-3 complex is a component of the cellular machinery that controls protein sorting from endosomes to lysosomes and melanosomes. BLOC-1 interacts physically and functionally with AP-3 to facilitate the trafficking of a known AP-3 cargo, CD63, and of tyrosinase-related protein 1 (Tyrp1). BLOC-1 also interacts with BLOC-2 to facilitate Tyrp1 trafficking by a mechanism apparently independent of AP-3 function. Both BLOC-1 and -2 predominantly localise to early endosome-associated tubules [].Complex-2 (BLOC-2) contains the HPS3, HPS5 and HPS6 proteins as subunits. Fibroblasts deficient in the BLOC-2 subunits HPS3 or HPS6 have normal basal secretion function of the lysosomal enzyme beta-hexosaminidase [].This entry includes BLOC-2 complex, Hps6 subunit, which may regulate the synthesis and function of lysosomes and of highly specialized organelles []. It acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Hsp6 facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and function [].

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Protein Domain

IPR035431 | HPS5

Type:

Family

Description:

Lysosome-related organelles comprise a group of specialised intracellular compartments that include melanosomes and platelet dense granules in mammals and eye pigment granules in insects. Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis. Genes associated with HPS encode subunits of three complexes that are known as biogenesis of lysosome-related organelles complex (BLOC)-1, -2 and -3 []. There are eight known HPS proteins of the BLOCs [, ]]. Organelles affected in HPS include the melanosome, resulting in hypopigmentation, and the platelet delta (dense) granule, resulting in prolonged bleeding times. HPS in humans or mice is caused by mutations in any of 15 genes, five of which encode subunits BLOC-1. BLOC-1 and BLOC-2 act sequentially in the same pathway. Melanosome maturation requires at least two cargo transport pathways directly from early endosomes to melanosomes. One pathway mediated by AP-3, and one pathway mediated by BLOC-1 and BLOC-2 []. The adaptor protein AP-3 complex is a component of the cellular machinery that controls protein sorting from endosomes to lysosomes and melanosomes. BLOC-1 interacts physically and functionally with AP-3 to facilitate the trafficking of a known AP-3 cargo, CD63, and of tyrosinase-related protein 1 (Tyrp1). BLOC-1 also interacts with BLOC-2 to facilitate Tyrp1 trafficking by a mechanism apparently independent of AP-3 function. Both BLOC-1 and -2 predominantly localise to early endosome-associated tubules [].Complex-2 (BLOC-2) contains the HPS3, HPS5 and HPS6 proteins as subunits. Fibroblasts deficient in the BLOC-2 subunits HPS3 or HPS6 have normal basal secretion function of the lysosomal enzyme beta-hexosaminidase [].This entry also includes HPS5 homologues from insects. Fruit fly HPS5 (also known as p) has a role in the biogenesis of eye pigment granules [,].

•

Publication

22730183 | J:189533

First Author:	Mori M
Year:	2012
Journal:	Genesis
Title:	Temporally controlled targeted somatic mutagenesis in mouse eye pigment epithelium.
Volume:	50
Issue:	11
Pages:	828-32

•

Publication

19553286 | J:152855

First Author:	Westenskow P
Year:	2009
Journal:	Development
Title:	Beta-catenin controls differentiation of the retinal pigment epithelium in the mouse optic cup by regulating Mitf and Otx2 expression.
Volume:	136
Issue:	15
Pages:	2505-10

•

Publication

22627278 | J:185536

First Author:	Lange CA
Year:	2012
Journal:	Development
Title:	Von Hippel-Lindau protein in the RPE is essential for normal ocular growth and vascular development.
Volume:	139
Issue:	13
Pages:	2340-50

•

Publication

18997061 | J:143241

First Author:	Kim JW
Year:	2008
Journal:	Genes Dev
Title:	Retinal degeneration triggered by inactivation of PTEN in the retinal pigment epithelium.
Volume:	22
Issue:	22
Pages:	3147-57

•

Publication

18055784 | J:132516

First Author:	Ruiz A
Year:	2007
Journal:	Invest Ophthalmol Vis Sci
Title:	Somatic ablation of the Lrat gene in the mouse retinal pigment epithelium drastically reduces its retinoid storage.
Volume:	48
Issue:	12
Pages:	5377-87

•

Publication

23676271 | J:197419

First Author:	Zhou Y
Year:	2013
Journal:	Proc Natl Acad Sci U S A
Title:	Notch2 regulates BMP signaling and epithelial morphogenesis in the ciliary body of the mouse eye.
Volume:	110
Issue:	22
Pages:	8966-71

•

Publication

20856205 | J:168814

First Author:	Schouwey K
Year:	2011
Journal:	Oncogene
Title:	RBP-Jκ-dependent Notch signaling enhances retinal pigment epithelial cell proliferation in transgenic mice.
Volume:	30
Issue:	3
Pages:	313-22

•

Publication

29615467 | J:263984

First Author:	Cristante E
Year:	2018
Journal:	Development
Title:	Late neuroprogenitors contribute to normal retinal vascular development in a Hif2a-dependent manner.
Volume:	145
Issue:	8

•

Publication

33440163 | J:320834

First Author:	Pang J
Year:	2021
Journal:	Cell Rep
Title:	NOTCH Signaling Controls Ciliary Body Morphogenesis and Secretion by Directly Regulating Nectin Protein Expression.
Volume:	34
Issue:	2
Pages:	108603

•

Publication

25189619 | J:236210

First Author:	Li K
Year:	2014
Journal:	J Cell Sci
Title:	HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes.
Volume:	127
Issue:	Pt 21
Pages:	4574-88

•

Publication

21709021 | J:175080

First Author:	Brown AD
Year:	2011
Journal:	Mol Cell Biol
Title:	A conditional mouse model for measuring the frequency of homologous recombination events in vivo in the absence of essential genes.
Volume:	31
Issue:	17
Pages:	3593-602

•

Publication

19596317 | J:153566

First Author:	Fujimura N
Year:	2009
Journal:	Dev Biol
Title:	Spatial and temporal regulation of Wnt/beta-catenin signaling is essential for development of the retinal pigment epithelium.
Volume:	334
Issue:	1
Pages:	31-45

•

Publication

33795534 | J:306330

First Author:	Le D
Year:	2021
Journal:	Mol Cells
Title:	Tsg101 Is Necessary for the Establishment and Maintenance of Mouse Retinal Pigment Epithelial Cell Polarity.
Volume:	44
Issue:	3
Pages:	168-178

•

Publication

23259948 | J:197656

First Author:	Burstyn-Cohen T
Year:	2012
Journal:	Neuron
Title:	Genetic dissection of TAM receptor-ligand interaction in retinal pigment epithelial cell phagocytosis.
Volume:	76
Issue:	6
Pages:	1123-32

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Protein

Q8BLY7

Organism:	Mus musculus/domesticus
Length:	805
Fragment?:	false

•

Protein

P59438

Organism:	Mus musculus/domesticus
Length:	1126
Fragment?:	false

•

Protein

Q6ZQ01

Organism:	Mus musculus/domesticus
Length:	1060
Fragment?:	true

•

Protein

Q640Q9

Organism:	Mus musculus/domesticus
Length:	1093
Fragment?:	false

•

Protein

A0A1B0GSK6

Organism:	Mus musculus/domesticus
Length:	119
Fragment?:	true

•

Protein

A0A173M1J6

Organism:	Mus musculus/domesticus
Length:	113
Fragment?:	false

•

Protein

D3Z3L4

Organism:	Mus musculus/domesticus
Length:	119
Fragment?:	true

•

Protein

A0A1B0GRB1

Organism:	Mus musculus/domesticus
Length:	204
Fragment?:	false

•

Protein

D3YYJ4

Organism:	Mus musculus/domesticus
Length:	202
Fragment?:	true

•

Protein

E9Q3X4

Organism:	Mus musculus/domesticus
Length:	1093
Fragment?:	false

•

Publication

17041891 | -

First Author:	Schreyer-Shafir N
Year:	2006
Journal:	Hum Mutat
Title:	A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
Volume:	27
Issue:	11
Pages:	1158

•

Publication

33187987 | J:331730

First Author:	Göppner C
Year:	2021
Journal:	J Biol Chem
Title:	Cellular basis of ClC-2 Cl(-) channel-related brain and testis pathologies.
Volume:	296

Pages:	100074

•

Publication

28402857 | J:251433

First Author:	Ha T
Year:	2017
Journal:	Cell Rep
Title:	The Retinal Pigment Epithelium Is a Notch Signaling Niche in the Mouse Retina.
Volume:	19
Issue:	2
Pages:	351-363

•

Strain

MGI:6188038 | DBA/2JArc

Attribute String:

inbred strain

•

Publication

29249622 | J:253963

First Author:	Moon KH
Year:	2018
Journal:	Dev Cell
Title:	Differential Expression of NF2 in Neuroepithelial Compartments Is Necessary for Mammalian Eye Development.
Volume:	44
Issue:	1
Pages:	13-28.e3

•

Publication

37190767 | J:354453

First Author:	Kim JM
Year:	2023
Journal:	Mol Cells
Title:	Wnt/β-Catenin Signaling Pathway Is Necessary for the Specification but Not the Maintenance of the Mouse Retinal Pigment Epithelium.
Volume:	46
Issue:	7
Pages:	441-450

•

Publication

34677125 | J:314167

First Author:	Lim S
Year:	2021
Journal:	Elife
Title:	mTORC1-induced retinal progenitor cell overproliferation leads to accelerated mitotic aging and degeneration of descendent Müller glia.
Volume:	10

•

Strain

MGI:2684695 | DBA/2J

Attribute String:

inbred strain

•

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