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Search results 101 to 133 out of 133 for Hps3

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0.019s

Type

Details

Score

Allele

Hps3<coa-6J> | MGI:1861609

Name:	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa 6 Jackson
Allele Type:	Spontaneous

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Genotype

Symbol:	Hps3/Hps3
Background:	C3H/HeJ-Hps3/J
Zygosity:	hm
Has Mutant Allele:	true

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Genotype

Symbol:	Hps3/Hps3
Background:	involves: C57BL/10J
Zygosity:	hm
Has Mutant Allele:	true

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Genotype

Symbol:	Hps3/Hps3 Myo5a/Myo5a Mreg/Mreg
Background:	involves: C57BL/10J
Zygosity:	cx
Has Mutant Allele:	true

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DO Term

DOID:0060541 | Hermansky-Pudlak syndrome 3

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Protein Domain

IPR029437 | HPS3_N

Type:

Domain

Description:

This entry represents the N-terminal domain of BLOC-2 complex member HPS3. In human HPS3, this region carries the clathrin-binding motif LLDFE at residues 172-176. Hermansky-Pudlak syndrome caused by mutations in HPS3 gene is a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects [, ].

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Protein Domain

IPR029438 | HPS3_C

Type:

Domain

Description:

This entry represents the C-terminal domain of BLOC-2 complex member HPS3. In human HPS3, this region carries a number of tyrosine sorting motifs and the second of two di-leucine sorting boxes at residues 711-717, as well as the ER membrane-retention signal KKPL at residues 1000-1003. Hermansky-Pudlak syndrome caused by mutations in HPS3 gene is a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects [, ].

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Publication

11836498 | J:75144

First Author:	Suzuki T
Year:	2002
Journal:	Nat Genet
Title:	Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Volume:	30
Issue:	3
Pages:	321-4

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Publication

12847290 | J:99881

First Author:	Nazarian R
Year:	2003
Journal:	Proc Natl Acad Sci U S A
Title:	Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
Volume:	100
Issue:	15
Pages:	8770-5

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Publication

19687360 | J:167109

First Author:	King SM
Year:	2009
Journal:	Circulation
Title:	Platelet dense-granule secretion plays a critical role in thrombosis and subsequent vascular remodeling in atherosclerotic mice.
Volume:	120
Issue:	9
Pages:	785-91

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Publication

16837549 | J:114587

First Author:	Di Pietro SM
Year:	2006
Journal:	Mol Biol Cell
Title:	BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes.
Volume:	17
Issue:	9
Pages:	4027-38

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Publication

17156100 | -

First Author:	Falcón-Pérez JM
Year:	2007
Journal:	Traffic
Title:	The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).
Volume:	8
Issue:	2
Pages:	154-68

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Publication

17365864 | -

First Author:	Huizing M
Year:	2007
Journal:	Platelets
Title:	Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
Volume:	18
Issue:	2
Pages:	150-7

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Publication

15030569 | -

First Author:	Di Pietro SM
Year:	2004
Journal:	Traffic
Title:	Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
Volume:	5
Issue:	4
Pages:	276-83

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Protein

Q3TU08

Organism:	Mus musculus/domesticus
Length:	750
Fragment?:	true

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Protein

F6Q7C7

Organism:	Mus musculus/domesticus
Length:	534
Fragment?:	true

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Protein

F6YT95

Organism:	Mus musculus/domesticus
Length:	253
Fragment?:	true

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Publication

9714595 | -

First Author:	Lloyd V
Year:	1998
Journal:	Trends Cell Biol
Title:	Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery.
Volume:	8
Issue:	7
Pages:	257-9

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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 [,].

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Publication

17182842 | J:124026

First Author:	Setty SR
Year:	2007
Journal:	Mol Biol Cell
Title:	BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.
Volume:	18
Issue:	3
Pages:	768-80

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Protein

Q8BLY7

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

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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

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Protein

A0A1B0GSK6

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

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Protein

A0A173M1J6

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

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Protein

D3Z3L4

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

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Protein

A0A1B0GRB1

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

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Protein

D3YYJ4

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

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Protein

E9Q3X4

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

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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

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