Protein detail

HPS4

BLOC-3 complex member HPS4 (Hermansky-Pudlak syndrome 4 protein) (Light-ear protein homolog)

Entry name HPS4	UniProt ID Q9NQG7	EVMP confidence score 0.38
Supporting publications (n) 4	Transmembrane count	Protein classification Disease related genesHuman disease related genesPredicted intracellular proteins

EVMP confidence score

Annotation confidence score; open for threshold definitions.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information11

Protein Names

BLOC-3 complex member HPS4 (Hermansky-Pudlak syndrome 4 protein) (Light-ear protein homolog)

Protein Class (3)

Disease related genesHuman disease related genesPredicted intracellular proteins

Protein Function (3)

Disease related genes
Predicted intracellular proteins
Human disease related genes:Congenital disorders of metabolism:Congenital disorders of amino acid metabolism

Ensembl

ENSG00000100099

Entrez Gene Symbol

HPS4

Gene Synonym (3)

BLOC3S2KIAA1667LE

Gene Description

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

Chromosome

Position

26443107-26483931

Supporting publications (n)

EVMP confidence score

0.38

Fluorescence & Localization4

Tissue Specificadrenal glandCell SpecificBreast lactating cellsSingle-Nuclei Brain Specificendothelial cell

Function & Pathway7

Protein Function (3)

Disease related genes
Predicted intracellular proteins
Human disease related genes:Congenital disorders of metabolism:Congenital disorders of amino acid metabolism

Cellular Component (9)

Molecular Function (5)

Biological Process (3)

Reactome (4)

Canonical Pathways (3)

M277 Pid integrin a4b1 pathway
M18 Pid integrin1 pathway
M3008 Naba ecm glycoproteins

Mediation Categories (2)

Fusion and delivery mediationImmune mediation

Relations & Evidence6

Ligand-Receptor Signaling (4)

4 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
intracellular	intracellular	LOCATE	No	No	No	No	No
intracellular	intracellular	ComPPI	No	No	No	No	No
intracellular	intracellular	GO_Intercell	No	No	No	No	No
intracellular	intracellular	OmniPath	No	No	No	No	No

Protein Complex Composition (1)

1 record.

Component Name	Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs	References
BLOC-3	HPS1 HPS4	Q92902 Q9NQG7	1:1	CORUMSIGNORCompleatComplexPortal	intact:EBI-22228063SIGNOR:SIGNOR-C253CORUM:11Compleat:HC1348	30387913 23247405 12756248 23174301 23726022 14755292 16185271 12847290 20048159

Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential UltracentrifugationSize Exclusion Chromatography	Mass spectrometry	1	40222457

Sequence, Structure & Domains7

Sequences

Length

708

Mass

76,919

Sequence

MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL

Alternative Products

Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9NQG7-1; Sequence=Displayed; Name=2; IsoId=Q9NQG7-2; Sequence=VSP_003880, VSP_003881, VSP_003882; Name=3; IsoId=Q9NQG7-3; Sequence=VSP_017082; Name=4; IsoId=Q9NQG7-4; Sequence=VSP_017082, VSP_003880

Alternative Sequence

1..14; MATSTSTEAKSASW -> MAPLCSLAR (in isoform 3 and isoform 4); 236; G -> GKWMLWSFKNRVTHQNPNG (in isoform 2 and isoform 4); 463..510; RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSS -> KSTVLFSGGCVKGSDTQLCVPGLVWYLEPQFYYVIVRHFFDSMRQTAG (in isoform 2); 511..708; Missing (in isoform 2)

Domain & Motif Annotations

Compositional Bias

319..331; Basic and acidic residues

Region

269..331; Disordered; 407..490; Disordered

Clinical Relevance2

Disease Involvement (2)

AlbinismHermansky-Pudlak syndrome

Antibody (3)

HPA003375 CAB033106 HPA050189

Supporting Publications4

PMID	Title	Abstract
27894104	Proteomic profiling of NCI-60 extracellular vesicles uncovers common protein cargo and cancer type-specific biomarkers.	No abstract available
33204424	Proteomic analysis of extracellular vesicles reveals an immunogenic cargo in rheumatoid arthritis synovial fluid.	No abstract available
35611462	Extracellular vesicles expressing CEACAM proteins in the urine of bladder cancer patients.	No abstract available
39569406	Proteomics of circulating extracellular vesicles reveals diverse clinical presentations of COVID-19 but fails to identify viral peptides.	No abstract available