(Q21435849)

English

HPS1, biogenesis of lysosomal organelles complex 3 subunit 1

mammalian protein found in Mus musculus

Hermansky-Pudlak syndrome 1 homolog
Hps1
Hermansky-Pudlak syndrome protein homolog
Hermansky-Pudlak syndrome 1 protein homolog
pale ear

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Statements

1 reference

25 May 2022

1 reference

19 January 2017

Hermansky-Pudlak syndrome 1 protein

1 reference

stated in

InterPro Release 71.0

reference URL

http://www.ebi.ac.uk/interpro/protein/O08983

1 reference

25 May 2022

1 reference

25 May 2022

protein dimerization activity

1 reference

14 February 2019

Mouse Genome Informatics

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O08983

determination method

ISO

guanyl-nucleotide exchange factor activity

3 references

2 references

1 reference

14 February 2019

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

GOA

curator

Mouse Genome Informatics

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O08983

1 reference

14 February 2019

Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci

GOA

curator

Mouse Genome Informatics

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O08983

determination method

IMP

organelle organization

1 reference

14 February 2019

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

GOA

curator

Mouse Genome Informatics

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O08983

determination method

IMP

retina development in camera-type eye

1 reference

14 February 2019

Mouse model resources for vision research

GOA

curator

Mouse Genome Informatics

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O08983

1 reference

14 February 2019

Mouse model resources for vision research

GOA

curator

Mouse Genome Informatics

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O08983

determination method

IMP

secretion of lysosomal enzymes

1 reference

14 February 2019

Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity

GOA

curator

Mouse Genome Informatics

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O08983

determination method

IMP

positive regulation of natural killer cell activation

1 reference

14 February 2019

Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity

GOA

curator

Mouse Genome Informatics

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O08983

determination method

IMP

melanocyte differentiation

1 reference

14 February 2019

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

GOA

curator

Mouse Genome Informatics

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O08983

2 references

Identifiers

1 reference

20 March 2022

1 reference

20 March 2022

1 reference

20 March 2022

1 reference

20 March 2022

1 reference

20 March 2022

1 reference

20 March 2022

1 reference

20 March 2022

1 reference

20 March 2022

1 reference

20 March 2022

1 reference

25 May 2022

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

(Q21435849)

HPS1, biogenesis of lysosomal organelles complex 3 subunit 1

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Identifiers

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