Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Curator Guide
Release Documentation
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Search ...
Go!
HPS1 [cytosol]
Stable Identifier
R-HSA-8877742
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Hermansky-Pudlak syndrome 1 protein, HPS1_HUMAN
Locations in the PathwayBrowser
Expand all
Vesicle-mediated transport (Homo sapiens)
Membrane Trafficking (Homo sapiens)
Rab regulation of trafficking (Homo sapiens)
RAB GEFs exchange GTP for GDP on RABs (Homo sapiens)
HPS1:HPS4 exchange GTP for GDP on RAB32 and RAB38 (Homo sapiens)
HPS1:HPS4 [cytosol] (Homo sapiens)
HPS1 [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q92902 HPS1
Gene Names
HPS1, HPS
Chain
chain:1-700
Reference Genes
BioGPS Gene:3257 HPS1
COSMIC (genes):HPS1 HPS1
CTD Gene:3257 HPS1
dbSNP Gene:3257 HPS1
ENSEMBL:ENSG00000107521 HPS1
HGNC:5163 HPS1
Monarch:3257 HPS1
NCBI Gene:3257 HPS1
OMIM:604982 HPS1
UCSC:Q92902 HPS1
Reference Transcript
RefSeq:XM_005269757.4 HPS1
RefSeq:NM_001322476.1 HPS1
RefSeq:NM_182639.3 HPS1
RefSeq:NM_001322479.1 HPS1
RefSeq:NM_001322477.1 HPS1
RefSeq:NM_000195.4 HPS1
RefSeq:NM_001322478.1 HPS1
Other Identifiers
11727901_a_at
11733232_a_at
11733233_a_at
11761719_at
11761720_x_at
16717314
203308_PM_x_at
203308_x_at
203309_PM_s_at
203309_s_at
210112_PM_at
210112_at
217354_PM_s_at
217354_s_at
239382_PM_at
239382_at
3257
3302793
3302794
3302795
3302796
3302797
3302798
3302799
3302800
3302802
3302804
3302806
3302807
3302808
3302809
3302810
3302811
3302812
3302813
3302814
3302823
3302824
3302825
3302831
3302832
3302833
3302834
3302835
3302836
3302837
3302838
3302839
3302840
3302841
3302842
3302843
3302844
3302845
3302846
3302847
3302848
3302849
3302850
3302851
3302852
3302853
3302854
3302855
3302856
3302857
3302858
3302859
3302860
3302861
3302862
3302863
3302864
3302865
3302866
3302867
3302868
3302869
3302870
3302871
3302872
3302873
3302877
3302879
3302880
3302881
38467_at
38468_at
3959770
58857_at
7935588
A_23_P202361
A_23_P328069
A_24_P415327
A_33_P3412479
GE59321
GO:0005085
GO:0005515
GO:0005737
GO:0005764
GO:0005773
GO:0005829
GO:0007040
GO:0007601
GO:0016192
GO:0031085
GO:0031410
GO:0043226
GO:0046907
GO:0046983
GO:0050877
GO:0060155
GO:0098772
GO:1903232
HMNXSV003014317
HMNXSV003015993
HMNXSV003018481
Hs.272270.0.S1_3p_s_at
Hs.293770.0.A1_3p_at
Hs.83951.0.S1_3p_a_at
ILMN_1741483
ILMN_2267787
ILMN_2411658
PH_hs_0024634
TC10001578.hg
U65676_at
g2454272_3p_at
g4504484_3p_a_at
Participates
as a component of
HPS1:HPS4 [cytosol] (Homo sapiens)
Inferred To
HPS1 [cytosol]
(Bos taurus)
HPS1 [cytosol]
(Canis familiaris)
HPS1 [cytosol]
(Drosophila melanogaster)
HPS1 [cytosol]
(Gallus gallus)
HPS1 [cytosol]
(Sus scrofa)
hps1 [cytosol]
(Danio rerio)
Hps1 [cytosol]
(Mus musculus)
Hps1 [cytosol]
(Rattus norvegicus)
Cross References
ENSEMBL
ENST00000361490
,
ENSP00000343638
,
ENSP00000326649
,
ENSP00000355310
,
ENST00000699142
,
ENST00000699140
,
ENST00000338546
,
ENSP00000514162
,
ENSP00000514157
,
ENSP00000514153
,
ENST00000699145
,
ENST00000699136
,
ENST00000325103
,
ENSP00000514159
OpenTargets
ENSG00000107521
HPA
ENSG00000107521-HPS1
PRO
Q92902
Pharos - Targets
Q92902
Orphanet
HPS1
© 2024
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text