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Q6QNY0

- BL1S3_HUMAN

UniProt

Q6QNY0 - BL1S3_HUMAN

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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 3

Gene

BLOC1S3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. anterograde axon cargo transport Source: UniProtKB
  2. anterograde synaptic vesicle transport Source: UniProtKB
  3. endosome to melanosome transport Source: UniProtKB
  4. eye development Source: UniProtKB
  5. melanosome organization Source: UniProtKB
  6. melanosome transport Source: UniProtKB
  7. membrane organization Source: Reactome
  8. neuron projection development Source: UniProtKB
  9. pigmentation Source: UniProtKB
  10. platelet activation Source: UniProtKB
  11. platelet dense granule organization Source: UniProtKB
  12. positive regulation of natural killer cell activation Source: Ensembl
  13. post-Golgi vesicle-mediated transport Source: Reactome
  14. response to drug Source: Ensembl
  15. secretion of lysosomal enzymes Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_19400. 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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:20914. BLOC1S3.

Subcellular locationi

Cytoplasm By similarity

GO - Cellular componenti

  1. BLOC-1 complex Source: UniProtKB
  2. cytosol Source: Reactome
  3. transport vesicle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Albinism, Hermansky-Pudlak syndrome

Organism-specific databases

MIMi614077. phenotype.
Orphaneti231537. Hermansky-Pudlak syndrome type 8.
PharmGKBiPA134884924.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 202202Biogenesis of lysosome-related organelles complex 1 subunit 3PRO_0000234548Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei63 – 631Phosphothreonine3 Publications
Modified residuei65 – 651Phosphoserine3 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ6QNY0.
PaxDbiQ6QNY0.
PRIDEiQ6QNY0.

PTM databases

PhosphoSiteiQ6QNY0.

Expressioni

Gene expression databases

BgeeiQ6QNY0.
CleanExiHS_BLOC1S3.
ExpressionAtlasiQ6QNY0. baseline and differential.
GenevestigatoriQ6QNY0.

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

WithEntry#Exp.IntActNotes
BLOC1S2Q6QNY13EBI-465930,EBI-465872
BLOC1S6Q9UL453EBI-465930,EBI-465781
DTNBP1Q96EV83EBI-465930,EBI-465804

Protein-protein interaction databases

BioGridi132736. 7 interactions.
IntActiQ6QNY0. 6 interactions.
STRINGi9606.ENSP00000343089.

Structurei

3D structure databases

ProteinModelPortaliQ6QNY0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the BLOC1S3 family.Curated

Phylogenomic databases

eggNOGiNOG45212.
GeneTreeiENSGT00390000008756.
HOGENOMiHOG000060304.
InParanoidiQ6QNY0.
OMAiQILPDIN.
OrthoDBiEOG7SFHZV.
PhylomeDBiQ6QNY0.
TreeFamiTF336303.

Family and domain databases

InterProiIPR017245. BLOC-1_complex_su-3.
[Graphical view]
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_212550.3.
UniGeneiHs.103902.

Genome annotation databases

EnsembliENST00000433642; ENSP00000393840; ENSG00000189114.
ENST00000587722; ENSP00000468281; ENSG00000189114.
GeneIDi388552.
KEGGihsa:388552.
UCSCiuc002pax.4. human.

Polymorphism databases

DMDMi74749299.

Cross-referencesi

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 .
CCDSi CCDS12656.1.
RefSeqi NP_997715.1. NM_212550.3.
UniGenei Hs.103902.

3D structure databases

ProteinModelPortali Q6QNY0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 132736. 7 interactions.
IntActi Q6QNY0. 6 interactions.
STRINGi 9606.ENSP00000343089.

PTM databases

PhosphoSitei Q6QNY0.

Polymorphism databases

DMDMi 74749299.

Proteomic databases

MaxQBi Q6QNY0.
PaxDbi Q6QNY0.
PRIDEi Q6QNY0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000433642 ; ENSP00000393840 ; ENSG00000189114 .
ENST00000587722 ; ENSP00000468281 ; ENSG00000189114 .
GeneIDi 388552.
KEGGi hsa:388552.
UCSCi uc002pax.4. human.

Organism-specific databases

CTDi 388552.
GeneCardsi GC19P045682.
GeneReviewsi BLOC1S3.
HGNCi HGNC:20914. BLOC1S3.
MIMi 609762. gene.
614077. phenotype.
neXtProti NX_Q6QNY0.
Orphaneti 231537. Hermansky-Pudlak syndrome type 8.
PharmGKBi PA134884924.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG45212.
GeneTreei ENSGT00390000008756.
HOGENOMi HOG000060304.
InParanoidi Q6QNY0.
OMAi QILPDIN.
OrthoDBi EOG7SFHZV.
PhylomeDBi Q6QNY0.
TreeFami TF336303.

Enzyme and pathway databases

Reactomei REACT_19400. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

GenomeRNAii 388552.
NextBioi 102134.
PROi Q6QNY0.
SOURCEi Search...

Gene expression databases

Bgeei Q6QNY0.
CleanExi HS_BLOC1S3.
ExpressionAtlasi Q6QNY0. baseline and differential.
Genevestigatori Q6QNY0.

Family and domain databases

InterProi IPR017245. BLOC-1_complex_su-3.
[Graphical view ]
PIRSFi PIRSF037630. BLOC-1_complex_subunit_3. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.

Entry informationi

Entry nameiBL1S3_HUMAN
AccessioniPrimary (citable) accession number: Q6QNY0
Secondary accession number(s): B2RXB8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: July 5, 2004
Last modified: October 29, 2014
This is version 96 of the entry and version 1 of the sequence. [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

External Data

Dasty 3