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Q6QNY0 (BL1S3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 3

Short name=BLOC-1 subunit 3
Gene names
Name:BLOC1S3
Synonyms:BLOS3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length202 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.4 Ref.5

Subunit structure

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. Ref.1 Ref.10

Subcellular location

Cytoplasm By similarity.

Involvement in disease

Hermansky-Pudlak syndrome 8 (HPS8) [MIM:614077]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the BLOC1S3 family.

Ontologies

Keywords
   Cellular componentCytoplasm
   DiseaseAlbinism
Hermansky-Pudlak syndrome
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanterograde axon cargo transport

Inferred from sequence or structural similarity. Source: UniProtKB

anterograde synaptic vesicle transport

Inferred from sequence or structural similarity. Source: UniProtKB

endosome to melanosome transport

Inferred from direct assay Ref.5. Source: UniProtKB

eye development

Inferred from mutant phenotype Ref.4. Source: UniProtKB

melanosome organization

Non-traceable author statement Ref.1Ref.10. Source: UniProtKB

melanosome transport

Inferred from direct assay Ref.5. Source: UniProtKB

membrane organization

Traceable author statement. Source: Reactome

neuron projection development

Inferred from sequence or structural similarity. Source: UniProtKB

pigmentation

Inferred from mutant phenotype Ref.4. Source: UniProtKB

platelet activation

Inferred from mutant phenotype Ref.4. Source: UniProtKB

platelet dense granule organization

Non-traceable author statement Ref.1. Source: UniProtKB

positive regulation of natural killer cell activation

Inferred from electronic annotation. Source: Ensembl

post-Golgi vesicle-mediated transport

Traceable author statement. Source: Reactome

response to drug

Inferred from electronic annotation. Source: Ensembl

secretion of lysosomal enzymes

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentBLOC-1 complex

Inferred from direct assay Ref.1Ref.5Ref.10. Source: UniProtKB

cytosol

Traceable author statement. Source: Reactome

transport vesicle

Inferred from direct assay Ref.5. Source: UniProtKB

Complete GO annotation...

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 202202Biogenesis of lysosome-related organelles complex 1 subunit 3
PRO_0000234548

Amino acid modifications

Modified residue631Phosphothreonine Ref.6 Ref.8 Ref.9
Modified residue651Phosphoserine Ref.6 Ref.8 Ref.9

Sequences

Sequence LengthMass (Da)Tools
Q6QNY0 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: EB072B856AB6B4CF

FASTA20221,256
        10         20         30         40         50         60 
MASQGRRRRP LRRPETVVPG EATETDSERS ASSSEEEELY LGPSGPTRGR PTGLRVAGEA 

        70         80         90        100        110        120 
AETDSEPEPE PEPTAAPRDL PPLVVQRESA EEAWGTEEAP APAPARSLLQ LRLAESQARL 

       130        140        150        160        170        180 
DHDVAAAVSG VYRRAGRDVA ALASRLAAAQ AAGLAAAHSV RLARGDLCAL AERLDIVAGC 

       190        200 
RLLPDIRGVP GTEPEKDPGP RA 

« Hide

References

« Hide 'large scale' references
[1]"Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)."
Starcevic M., Dell'Angelica E.C.
J. Biol. Chem. 279:28393-28401(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], IDENTIFICATION IN THE BLOC-1 COMPLEX, INTERACTION WITH BLOC1S2.
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Tongue.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain and Testis.
[4]"A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)."
Morgan N.V., Pasha S., Johnson C.A., Ainsworth J.R., Eady R.A.J., Dawood B., McKeown C., Trembath R.C., Wilde J., Watson S.P., Maher E.R.
Am. J. Hum. Genet. 78:160-166(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INVOLVEMENT IN HPS8.
[5]"BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles."
Setty S.R., Tenza D., Truschel S.T., Chou E., Sviderskaya E.V., Theos A.C., Lamoreux M.L., Di Pietro S.M., Starcevic M., Bennett D.C., Dell'Angelica E.C., Raposo G., Marks M.S.
Mol. Biol. Cell 18:768-780(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[6]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-63 AND SER-65, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-63 AND SER-65, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[9]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-63 AND SER-65, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1)."
Lee H.H., Nemecek D., Schindler C., Smith W.J., Ghirlando R., Steven A.C., Bonifacino J.S., Hurley J.H.
J. Biol. Chem. 287:5882-5890(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, COMPOSITION OF THE BLOC-1 COMPLEX.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY531266 mRNA. Translation: AAT00462.1.
AK296695 mRNA. Translation: BAG59289.1.
BC151151 mRNA. Translation: AAI51152.1.
BC151152 mRNA. Translation: AAI51153.1.
RefSeqNP_997715.1. NM_212550.3.
UniGeneHs.103902.

3D structure databases

ProteinModelPortalQ6QNY0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid132736. 6 interactions.
IntActQ6QNY0. 6 interactions.
STRING9606.ENSP00000343089.

PTM databases

PhosphoSiteQ6QNY0.

Polymorphism databases

DMDM74749299.

Proteomic databases

PaxDbQ6QNY0.
PRIDEQ6QNY0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000433642; ENSP00000393840; ENSG00000189114.
ENST00000587722; ENSP00000468281; ENSG00000189114.
GeneID388552.
KEGGhsa:388552.
UCSCuc002pax.4. human.

Organism-specific databases

CTD388552.
GeneCardsGC19P045682.
HGNCHGNC:20914. BLOC1S3.
MIM609762. gene.
614077. phenotype.
neXtProtNX_Q6QNY0.
Orphanet231537. Hermansky-Pudlak syndrome type 8.
PharmGKBPA134884924.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45212.
HOGENOMHOG000060304.
InParanoidQ6QNY0.
OMAQILPDIN.
OrthoDBEOG7SFHZV.
PhylomeDBQ6QNY0.
TreeFamTF336303.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

ArrayExpressQ6QNY0.
BgeeQ6QNY0.
CleanExHS_BLOC1S3.
GenevestigatorQ6QNY0.

Family and domain databases

InterProIPR017245. BLOC-1_complex_su-3.
[Graphical view]
PIRSFPIRSF037630. BLOC-1_complex_subunit_3. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi388552.
NextBio102134.
PROQ6QNY0.
SOURCESearch...

Entry information

Entry nameBL1S3_HUMAN
AccessionPrimary (citable) accession number: Q6QNY0
Secondary accession number(s): B2RXB8
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 90 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM