Expression of HPS1 in cancer - Summary - The Human Protein Atlas

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HPS1

TISSUE

CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

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 category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Mixed
HPA (normal tissue):	Expressed in all

Protein evidence

Evidence at protein level

Protein expression
normal tissue

General cytoplasmic expression.

ANTIBODY IHC 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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PROGNOSTIC SUMMARY
Prognostic marker in endometrial cancer (favourable), cervical cancer (favourable), lung cancer (favourable) and glioma (unfavourable).
Endometrial cancer p<0.001 Cervical cancer p<0.001 Lung cancer p<0.001 Glioma p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA061260

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 Show all	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

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The Project

The Human Protein Atlas

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