Protein detail

HPS3

BLOC-2 complex member HPS3 (Hermansky-Pudlak syndrome 3 protein)

Entry name HPS3	UniProt ID Q969F9	EVMP confidence score 0.38
Supporting publications (n) 1	Transmembrane count	Protein classification Disease related genesHuman disease related genesMetabolic proteinsPredicted intracellular proteinsPredicted membrane 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-2 complex member HPS3 (Hermansky-Pudlak syndrome 3 protein)

Protein Class (5)

Disease related genesHuman disease related genesMetabolic proteinsPredicted intracellular proteinsPredicted membrane 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

ENSG00000163755

Entrez Gene Symbol

HPS3

Gene Synonym (2)

BLOC2S1SUTAL

Gene Description

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

Chromosome

Position

149129638-149173732

Supporting publications (n)

EVMP confidence score

0.38

Fluorescence & Localization3

Cell SpecificLoop of henle epithelial cellsSingle-Nuclei Brain Specificpericyte

Function & Pathway5

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 (4)

Molecular Function

GO:0005515 protein binding

Biological Process (3)

Mediation Categories

Fusion and delivery mediation

Relations & Evidence9

Ligand-Receptor Signaling (5)

5 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
intracellular	intracellular	ComPPI	No	No	No	No	No
intracellular	intracellular	GO_Intercell	No	No	No	No	No
intracellular	intracellular	UniProt_location	No	No	No	No	No
intracellular	intracellular	OmniPath	No	No	No	No	No
transmembrane	transmembrane_predicted	Phobius	No	No	No	No	No

Protein Complex Composition (3)

3 records.

Component Name	Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs	References
BLOC-2	HPS3 HPS5 HPS6	Q86YV9 Q969F9 Q9UPZ3	1:1:1	ComplexPortalSIGNORCompleatCORUM	Compleat:HC489intact:EBI-22228238CORUM:12SIGNOR:SIGNOR-C252	14718540 30387913 23247405 23726022 14755292 25189619 15030569
BLOC1-BLOC2 complex	BLOC1S1 BLOC1S2 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6 DTNBP1 HPS3 HPS5 HPS6 SNAPIN	O95295 P78537 Q6QNY0 Q6QNY1 Q86YV9 Q8TDH9 Q969F9 Q96EV8 Q9NUP1 Q9UL45 Q9UPZ3	1:1:1:1:1:1:1:1:1:1:1	CompleatCORUM	Compleat:HC370CORUM:654	16837549
	HPS3 HPS6	Q86YV9 Q969F9	0:0	hu.MAP2

Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential UltracentrifugationSize Exclusion Chromatography	Western BlottingElisaMass SpectrometryImmunofluorescence	2	34185707 37438583

Sequence, Structure & Domains6

Sequences

Length

1,004

Mass

113,736

Sequence

MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFSTLGRVLRLAYSEAGDYLVAIEEKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEGPFSKAFRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFSLKYQIINEEFSLLDFERSLIIHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNGERVHHHPHKTNNRIRRTEEGISNEISQLESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPDISSYVLSDDIKLHSLQLLPIYQTGSLTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKSVELMSVYQYPEKSQQAVLTPQFLHVITSNNLQCFTVRCSAAAAREEDPYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRQSPKRLLSRKDTSVKIKIPPVAEAGWNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEAHLLVRAALMDASQLEPGEKAELLEAFKESCGHLGDCYSRLDSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQKYERGLIFYINHSLYENLDEELNEELAAKVVQMFYVAEPKQVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILVTLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVDFWEAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVHVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFLEPLSEDTIAGLSVHVLCRTRLKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSSLKETLSIVAVELELKDFMNVLPEDGTATFFLPYLLYCSRKKPLT

Alternative Products

Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q969F9-1; Sequence=Displayed; Name=2; IsoId=Q969F9-2; Sequence=VSP_003878, VSP_003879

Alternative Sequence

864..890; SLICGPSFDIASIIPFLEPLSEDTIAG -> LPLFRSWSHFQKTLLPASVSMFCVVHA (in isoform 2); 891..1004; Missing (in isoform 2)

Domain & Motif Annotations

Motif

172..176; Clathrin-binding

Clinical Relevance2

Disease Involvement (3)

AlbinismDisease variantHermansky-Pudlak syndrome

Antibody (2)

HPA046281 HPA052778

Supporting Publications1

PMID	Title	Abstract
32384937	Alzheimer's disease progression characterized by alterations in the molecular profiles and biogenesis of brain extracellular vesicles.	No abstract available