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HPS1

GENERAL INFORMATION

Gene name

 HPS1

Gene description

 Hermansky-Pudlak syndrome 1

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA061260
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 HPS1 (HGNC Symbol)

Synonyms

 BLOC3S1, HPS

Description

 Hermansky-Pudlak syndrome 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]

Chromosome

 10

Cytoband

 q24.2

Chromosome location (bp)

 98416198 - 98446947

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000107521 (version 83.38)

Entrez gene

 3257

UniProt

 Q92902 (UniProt - Evidence at protein level)

neXtProt

 NX_Q92902

Antibodypedia

 HPS1 antibodies

PROTEIN BROWSER
HPS1-009
HPS1-010
HPS1-011
HPS1-013
HPS1-014
HPS1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HPS1-009
ENSP00000326649
ENST00000325103
Q92902 [Direct mapping]
Hermansky-Pudlak syndrome 1 protein
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005887 [integral component of plasma membrane]
GO:0007040 [lysosome organization]
GO:0007601 [visual perception]
GO:0016023 [cytoplasmic membrane-bounded vesicle]
GO:0031085 [BLOC-3 complex]
GO:0046983 [protein dimerization activity]
GO:0050896 [response to stimulus]
Show all
 700 aa
79.3 kDa 		No 0
HPS1-010
ENSP00000343638
ENST00000338546
Q92902 [Direct mapping]
Hermansky-Pudlak syndrome 1 protein
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005887 [integral component of plasma membrane]
GO:0007040 [lysosome organization]
GO:0007601 [visual perception]
GO:0016023 [cytoplasmic membrane-bounded vesicle]
GO:0031085 [BLOC-3 complex]
GO:0046983 [protein dimerization activity]
GO:0050896 [response to stimulus]
Show all
 324 aa
36.5 kDa 		No 0
HPS1-011
ENSP00000355310
ENST00000361490
Q92902 [Direct mapping]
Hermansky-Pudlak syndrome 1 protein
Show all
Predicted intracellular proteins
Disease related genes
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005887 [integral component of plasma membrane]
GO:0007040 [lysosome organization]
GO:0007601 [visual perception]
GO:0016023 [cytoplasmic membrane-bounded vesicle]
GO:0031085 [BLOC-3 complex]
GO:0046983 [protein dimerization activity]
GO:0050896 [response to stimulus]
Show all
 700 aa
79.3 kDa 		No 0
HPS1-013
ENSP00000352652
ENST00000359632
Q5TAA8 [Direct mapping]
Hermansky-Pudlak syndrome 1 protein
Show all
Predicted intracellular proteins
Show all
 326 aa
36.4 kDa 		No 0
HPS1-014
ENSP00000392462
ENST00000414009
H0Y4K4 [Direct mapping]
Hermansky-Pudlak syndrome 1 protein
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Predicted intracellular proteins
Show all
 159 aa
17.8 kDa 		No 0
HPS1-201
ENSP00000477926
ENST00000613394
Q92902 [Direct mapping]
Hermansky-Pudlak syndrome 1 protein
Show all
Predicted intracellular proteins
Disease related genes
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005887 [integral component of plasma membrane]
GO:0007040 [lysosome organization]
GO:0007601 [visual perception]
GO:0016023 [cytoplasmic membrane-bounded vesicle]
GO:0031085 [BLOC-3 complex]
GO:0046983 [protein dimerization activity]
GO:0050896 [response to stimulus]
Show all
 700 aa
79.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.