(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

determination method or standard

1 reference

14 February 2019

Mouse Genome Informatics

reference URL

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

determination method or standard

ISO

guanyl-nucleotide exchange factor activity

determination method or standard

determination method or standard

ISO

1 reference

retrieved

14 February 2019

stated in

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 or standard

ISO

biological process

blood coagulation

determination method or standard

IMP

1 reference

retrieved

14 February 2019

stated in

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 or standard

IMP

organelle organization

determination method or standard

IMP

1 reference

retrieved

14 February 2019

stated in

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 or standard

IMP

retina development in camera-type eye

determination method or standard

IMP

1 reference

retrieved

14 February 2019

stated in

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 or standard

IMP

eye pigmentation

determination method or standard

IMP

1 reference

retrieved

14 February 2019

stated in

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 or standard

IMP

secretion of lysosomal enzymes

determination method or standard

IMP

1 reference

retrieved

14 February 2019

stated in

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 or standard

IMP

positive regulation of natural killer cell activation

determination method or standard

IMP

1 reference

retrieved

14 February 2019

stated in

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 or standard

IMP

melanocyte differentiation

determination method or standard

IMP

1 reference

retrieved

14 February 2019

stated in

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 or standard

IMP

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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