Cell atlas - HPS4 - The Human Protein Atlas

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HPS4

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Centrosome

Human cell
	Centrosome

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GENERAL INFORMATION
Gene name	HPS4
Gene description	Hermansky-Pudlak syndrome 4
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the centrosome.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Centrosome (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA050189
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the centrosome.

Main location

Centrosome (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA050189	A-431	Centrosome
	HPA050189	U-2 OS	No staining
	HPA050189	U-251 MG	Centrosome

GENE INFORMATION
Gene name	HPS4 (HGNC Symbol)
Synonyms	BLOC3S2, KIAA1667, LE
Description	Hermansky-Pudlak syndrome 4 (HGNC Symbol)
Entrez gene summary	This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Chromosome	22
Cytoband	q12.1
Chromosome location (bp)	26443423 - 26483837
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000100099 (version 83.38)
Entrez gene	89781
UniProt	Q9NQG7 (UniProt - Evidence at protein level)
neXtProt	NX_Q9NQG7
Antibodypedia	HPS4 antibodies

PROTEIN BROWSER

HPS4-005	HPS4-006	HPS4-008	HPS4-022

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
HPS4-005 ENSP00000381213 ENST00000398145	Q9NQG7 [Direct mapping] Hermansky-Pudlak syndrome 4 protein Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005764 [lysosome] GO:0006605 [protein targeting] GO:0006996 [organelle organization] GO:0007040 [lysosome organization] GO:0007596 [blood coagulation] GO:0007599 [hemostasis] GO:0016020 [membrane] GO:0016023 [cytoplasmic membrane-bounded vesicle] GO:0030318 [melanocyte differentiation] GO:0031085 [BLOC-3 complex] GO:0042470 [melanosome] GO:0042803 [protein homodimerization activity] GO:0042827 [platelet dense granule] GO:0046983 [protein dimerization activity] GO:0048075 [positive regulation of eye pigmentation] GO:0050821 [protein stabilization] GO:1903955 [positive regulation of protein targeting to mitochondrion] Show all	708 aa 76.9 kDa	No	0
HPS4-006 ENSP00000338457 ENST00000336873	Q9NQG7 [Direct mapping] Hermansky-Pudlak syndrome 4 protein Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005764 [lysosome] GO:0006605 [protein targeting] GO:0007040 [lysosome organization] GO:0007599 [hemostasis] GO:0016020 [membrane] GO:0031085 [BLOC-3 complex] GO:0042470 [melanosome] GO:0042803 [protein homodimerization activity] GO:0042827 [platelet dense granule] GO:0046983 [protein dimerization activity] GO:0048075 [positive regulation of eye pigmentation] GO:0050821 [protein stabilization] GO:1903955 [positive regulation of protein targeting to mitochondrion] Show all	708 aa 76.9 kDa	No	0
HPS4-008 ENSP00000384185 ENST00000402105	Q9NQG7 [Direct mapping] Hermansky-Pudlak syndrome 4 protein Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005764 [lysosome] GO:0006605 [protein targeting] GO:0007040 [lysosome organization] GO:0007599 [hemostasis] GO:0016020 [membrane] GO:0031085 [BLOC-3 complex] GO:0042470 [melanosome] GO:0042803 [protein homodimerization activity] GO:0042827 [platelet dense granule] GO:0046983 [protein dimerization activity] GO:0048075 [positive regulation of eye pigmentation] GO:0050821 [protein stabilization] GO:1903955 [positive regulation of protein targeting to mitochondrion] Show all	703 aa 76.4 kDa	No	0
HPS4-022 ENSP00000415081 ENST00000422379	F1LLU8 [Direct mapping] Hermansky-Pudlak syndrome 4 protein Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		481 aa 52.8 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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