Protein detail
HPS4
BLOC-3 complex member HPS4 (Hermansky-Pudlak syndrome 4 protein) (Light-ear protein homolog)
Entry name HPS4 | UniProt ID | EVMP confidence score 0.53 |
Supporting publications (n) 4 | Transmembrane count | Protein classification Disease related genesHuman disease related genesPredicted intracellular proteins |
Annotation confidence score; open for threshold definitions.
Extremely high >= 0.70High >= 0.60Medium >= 0.40Low >= 0.30Basic Information
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
Entrez Gene Symbol
Gene Synonym (3)
BLOC3S2KIAA1667LE
Gene Description
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Chromosome
22
Position
26443107-26483931
Supporting publications (n)
4
EVMP confidence score
0.53
Fluorescence & Localization
Tissue Specificadrenal glandCell SpecificBreast lactating cellsSingle-Nuclei Brain Specificendothelial cell
Function & Pathway
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 | |||||
| intracellular | intracellular | ComPPI | |||||
| intracellular | intracellular | GO_Intercell | |||||
| intracellular | intracellular | OmniPath |
Protein Complex Composition (1)
1 record.
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 & Domains
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 Relevance
Disease Involvement (2)
AlbinismHermansky-Pudlak syndrome
Related Diseases (2)
Supporting Publications4
| PMID | Title | Related sentences |
|---|---|---|
| 27894104 | Proteomic profiling of NCI-60 extracellular vesicles uncovers common protein cargo and cancer type-specific biomarkers. | No related sentences available |
| 33204424 | Proteomic analysis of extracellular vesicles reveals an immunogenic cargo in rheumatoid arthritis synovial fluid. | No related sentences available |
| 35611462 | Extracellular vesicles expressing CEACAM proteins in the urine of bladder cancer patients. | No related sentences available |
| 39569406 | Proteomics of circulating extracellular vesicles reveals diverse clinical presentations of COVID-19 but fails to identify viral peptides. | No related sentences available |