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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 3

Gene

BLOC1S3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking.2 Publications

GO - Biological processi

  • anterograde axonal transport Source: UniProtKB
  • anterograde synaptic vesicle transport Source: UniProtKB
  • endosome to melanosome transport Source: UniProtKB
  • eye development Source: UniProtKB
  • melanosome organization Source: UniProtKB
  • melanosome transport Source: UniProtKB
  • neuron projection development Source: UniProtKB
  • pigmentation Source: UniProtKB
  • platelet activation Source: UniProtKB
  • platelet dense granule organization Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 3
Short name:
BLOC-1 subunit 3
Gene namesi
Name:BLOC1S3
Synonyms:BLOS3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000189114.6
HGNCiHGNC:20914 BLOC1S3
MIMi609762 gene
neXtProtiNX_Q6QNY0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Hermansky-Pudlak syndrome 8 (HPS8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
See also OMIM:614077

Keywords - Diseasei

Albinism, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNETi388552
GeneReviewsiBLOC1S3
MalaCardsiBLOC1S3
MIMi614077 phenotype
OpenTargetsiENSG00000189114
Orphaneti231537 Hermansky-Pudlak syndrome type 8
PharmGKBiPA134884924

Polymorphism and mutation databases

BioMutaiBLOC1S3
DMDMi74749299

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002345481 – 202Biogenesis of lysosome-related organelles complex 1 subunit 3Add BLAST202

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei63PhosphothreonineCombined sources1
Modified residuei65PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6QNY0
MaxQBiQ6QNY0
PaxDbiQ6QNY0
PeptideAtlasiQ6QNY0
PRIDEiQ6QNY0
ProteomicsDBi67306

PTM databases

iPTMnetiQ6QNY0
PhosphoSitePlusiQ6QNY0

Expressioni

Gene expression databases

BgeeiENSG00000189114
CleanExiHS_BLOC1S3
ExpressionAtlasiQ6QNY0 baseline and differential
GenevisibleiQ6QNY0 HS

Organism-specific databases

HPAiHPA050111

Interactioni

Subunit structurei

Interacts with BLOC1S4, BLOC1S5 and BLOC1S6 (By similarity). Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interacts directly with BLOC1S2.By similarity2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi132736, 12 interactors
ComplexPortaliCPX-1910 BLOC-1 complex
CORUMiQ6QNY0
IntActiQ6QNY0, 8 interactors
STRINGi9606.ENSP00000393840

Structurei

3D structure databases

ProteinModelPortaliQ6QNY0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the BLOC1S3 family.Curated

Phylogenomic databases

eggNOGiENOG410IZNP Eukaryota
ENOG4111PN4 LUCA
GeneTreeiENSGT00390000008756
HOGENOMiHOG000060304
InParanoidiQ6QNY0
KOiK20186
OMAiDDEVYIT
OrthoDBiEOG091G0XF0
PhylomeDBiQ6QNY0
TreeFamiTF336303

Family and domain databases

InterProiView protein in InterPro
IPR017245 BLOC-1_complex_su-3
PANTHERiPTHR31974 PTHR31974, 1 hit
PfamiView protein in Pfam
PF15753 BLOC1S3, 1 hit
PIRSFiPIRSF037630 BLOC-1_complex_subunit_3, 1 hit

Sequencei

Sequence statusi: Complete.

Q6QNY0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASQGRRRRP LRRPETVVPG EATETDSERS ASSSEEEELY LGPSGPTRGR
60 70 80 90 100
PTGLRVAGEA AETDSEPEPE PEPTAAPRDL PPLVVQRESA EEAWGTEEAP
110 120 130 140 150
APAPARSLLQ LRLAESQARL DHDVAAAVSG VYRRAGRDVA ALASRLAAAQ
160 170 180 190 200
AAGLAAAHSV RLARGDLCAL AERLDIVAGC RLLPDIRGVP GTEPEKDPGP

RA
Length:202
Mass (Da):21,256
Last modified:July 5, 2004 - v1
Checksum:iEB072B856AB6B4CF
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY531266 mRNA Translation: AAT00462.1
AK296695 mRNA Translation: BAG59289.1
BC151151 mRNA Translation: AAI51152.1
BC151152 mRNA Translation: AAI51153.1
CCDSiCCDS12656.1
RefSeqiNP_997715.1, NM_212550.4
UniGeneiHs.103902

Genome annotation databases

EnsembliENST00000433642; ENSP00000393840; ENSG00000189114
ENST00000587722; ENSP00000468281; ENSG00000189114
GeneIDi388552
KEGGihsa:388552
UCSCiuc002pax.5 human

Similar proteinsi

Entry informationi

Entry nameiBL1S3_HUMAN
AccessioniPrimary (citable) accession number: Q6QNY0
Secondary accession number(s): B2RXB8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: July 5, 2004
Last modified: June 20, 2018
This is version 124 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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