Q6QNY0 (BL1S3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 3
Short name=BLOC-1 subunit 3

Gene names

Name:	BLOC1S3
Synonyms:	BLOS3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	202 AA.
Sequence status	Complete.
Protein existence	Evidence 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.9
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 component	Cytoplasm
Disease	Albinism Hermansky-Pudlak syndrome
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterograde axon cargo transport Inferred from sequence or structural similarity. Source: UniProtKB anterograde synaptic vesicle transport Inferred from sequence or structural similarity. Source: UniProtKB cellular membrane organization Traceable author statement. Source: Reactome 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.9. Source: UniProtKB melanosome transport Inferred from direct assay Ref.5. Source: UniProtKB neuron projection development Inferred from sequence or structural similarity. 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: Compara post-Golgi vesicle-mediated transport Traceable author statement. Source: Reactome response to drug Inferred from electronic annotation. Source: Compara secretion of lysosomal enzymes Inferred from electronic annotation. Source: Compara
Cellular_component	BLOC-1 complex Inferred from direct assay Ref.1Ref.5Ref.9. Source: UniProtKB transport vesicle Inferred from direct assay Ref.5. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BLOC1S2	Q6QNY1	3	EBI-465930,EBI-465872
BLOC1S6	Q9UL45	3	EBI-465930,EBI-465781
DTNBP1	Q96EV8	3	EBI-465930,EBI-465804

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 202	202	Biogenesis of lysosome-related organelles complex 1 subunit 3		PRO_0000234548
Amino acid modifications
	Modified residue	63	1	Phosphothreonine Ref.6 Ref.7 Ref.8
	Modified residue	65	1	Phosphoserine Ref.6 Ref.7 Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Q6QNY0 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: EB072B856AB6B4CF	FASTA	202	21,256
	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

References

	« Hide 'large scale' referencesShow '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. , 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"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, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[8]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"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

GeneReviews

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.
IPI	IPI00397721.
RefSeq	NP_997715.1. NM_212550.3.
UniGene	Hs.103902.
3D structure databases
ProteinModelPortal	Q6QNY0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6QNY0. 6 interactions.
STRING	9606.ENSP00000343089.
PTM databases
PhosphoSite	Q6QNY0.
Polymorphism databases
DMDM	74749299.
Proteomic databases
PaxDb	Q6QNY0.
PRIDE	Q6QNY0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000433642; ENSP00000393840; ENSG00000189114. ENST00000587722; ENSP00000468281; ENSG00000189114.
GeneID	388552.
KEGG	hsa:388552.
UCSC	uc002pax.4. human.
Organism-specific databases
CTD	388552.
GeneCards	GC19P045682.
HGNC	HGNC:20914. BLOC1S3.
MIM	609762. gene. 614077. phenotype.
neXtProt	NX_Q6QNY0.
Orphanet	231537. Hermansky-Pudlak syndrome type 8.
PharmGKB	PA134884924.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG45212.
HOGENOM	HOG000060304.
InParanoid	Q6QNY0.
OMA	RPTGLRV.
OrthoDB	EOG46Q6TX.
PhylomeDB	Q6QNY0.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking.
Gene expression databases
Bgee	Q6QNY0.
CleanEx	HS_BLOC1S3.
Genevestigator	Q6QNY0.
GermOnline	ENSG00000189114. Homo sapiens.
Family and domain databases
InterPro	IPR017245. BLOC-1_complex_su-3. [Graphical view]
PIRSF	PIRSF037630. BLOC-1_complex_subunit_3. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	388552.
NextBio	102134.
SOURCE	Search...

Entry information

Entry name

BL1S3_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.