Expression of HPS3 in cancer - Summary - The Human Protein Atlas

CANCER ATLAS

Gene description

Hermansky-Pudlak syndrome 3

Protein class

Disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA046281

GENE INFORMATION
Gene name	HPS3 (HGNC Symbol)
Synonyms	BLOC2S1, SUTAL
Description	Hermansky-Pudlak syndrome 3 (HGNC Symbol)
Entrez gene summary	This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
Chromosome	3
Cytoband	q24
Chromosome location (bp)	149129584 - 149173732
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000163755 (version 83.38)
Entrez gene	84343
UniProt	Q969F9 (UniProt - Evidence at protein level)
neXtProt	NX_Q969F9
Antibodypedia	HPS3 antibodies

PROTEIN BROWSER

HPS3-001	HPS3-003

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
HPS3-001 ENSP00000296051 ENST00000296051	Q969F9 [Direct mapping] Hermansky-Pudlak syndrome 3 protein Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005737 [cytoplasm] GO:0006996 [organelle organization] GO:0031084 [BLOC-2 complex] GO:0043473 [pigmentation] Show all	1004 aa 113.7 kDa	No	1
HPS3-003 ENSP00000418230 ENST00000460120	G5E9V4 [Direct mapping] Hermansky-Pudlak syndrome 3 protein; Hermansky-Pudlak syndrome 3, isoform CRA_c Show all	MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		839 aa 94.8 kDa	No	0