Protein detail

HPS3

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

Protein symbol HPS3	UniProt ID Q969F9	EVMP score 0.38
Frequency 1	Transmembrane count	Protein classification Disease related genesHuman disease related genesMetabolic proteinsPredicted intracellular proteinsPredicted membrane proteins

EVMP score: annotation confidence score.

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

Basic Information

Protein Names

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

Protein Class

Disease related genesHuman disease related genesMetabolic proteinsPredicted intracellular proteinsPredicted membrane proteins

Protein Function

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

BLOC2S1SUTAL

Gene Description

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

Chromosome

Position

149129638-149173732

Frequency

EVMP Score

0.38

Fluorescence & Localization

Cell SpecificLoop of henle epithelial cellsSingle-Nuclei Brain Specificpericyte

Function & Pathway

Protein Function

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

Cellular Component

Molecular Function

GO:0005515 protein binding

Biological Process

Mediation Categories

Fusion and delivery mediation

Relations & Evidence

Enzyme-Mediated Modification

0 records.

Ligand-Receptor Signaling

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

Regulatory Interaction Network

0 records.

Protein Complex Composition

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 record.

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

Sequence, Structure & Domains

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)

3D Structural Models

Domain & Motif Annotations

Motif

172..176; Clathrin-binding

Clinical Relevance

Disease Involvement

AlbinismDisease variantHermansky-Pudlak syndrome

Antibody

HPA046281 HPA052778