Q6QNY1 (BL1S2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 2
Short name=BLOC-1 subunit 2

Alternative name(s):
Centrosome-associated protein

Gene names

Name:	BLOC1S2
Synonyms:	BLOS2, CEAP

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	142 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. May play a role in cell proliferation. Ref.1 Ref.2 Ref.7
Subunit structure	Interacts with IFT57 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 BLOC1S1, BLOC1S3, BLOC1S4, BLOC1S5 and SNAPIN. Interacts with gamma-tubulin. Ref.1 Ref.2 Ref.9
Subcellular location	Cytoplasm › cytoskeleton › centrosome. Note: Localizes to the centrosomes in a microtubule-dependent manner. Ref.2
Tissue specificity	Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level). Ref.2
Sequence similarities	Belongs to the BLOC1S2 family.
Sequence caution	The sequence AAH20494.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAH72396.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAH72821.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
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 melanosome organization Non-traceable author statement Ref.1Ref.9. Source: UniProtKB microtubule nucleation Non-traceable author statement Ref.2. Source: UniProtKB neuron projection development Inferred from sequence or structural similarity. Source: UniProtKB platelet dense granule organization Non-traceable author statement Ref.1. Source: UniProtKB positive regulation of cell proliferation Inferred from direct assay Ref.2. Source: UniProtKB positive regulation of transcription from RNA polymerase II promoter Inferred from Biological aspect of Ancestor. Source: RefGenome positive regulation of transcription, DNA-dependent Inferred from direct assay PubMed 18329849. Source: UniProtKB regulation of apoptotic process Inferred from mutant phenotype PubMed 18188704. Source: UniProtKB
Cellular_component	BLOC-1 complex Inferred from direct assay Ref.1Ref.9. Source: UniProtKB centrosome Inferred from direct assay Ref.2. Source: UniProtKB gamma-tubulin complex Inferred from direct assay Ref.2. Source: UniProtKB nucleus Inferred from direct assay PubMed 18329849. Source: UniProtKB recycling endosome Inferred from electronic annotation. Source: Compara
Molecular_function	gamma-tubulin binding Inferred from direct assay Ref.2. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BLOC1S1	P78537	3	EBI-465872,EBI-348630
BLOC1S3	Q6QNY0	3	EBI-465872,EBI-465930
BLOC1S5	Q8TDH9	2	EBI-465872,EBI-465861
BLOC1S6	Q9UL45	3	EBI-465872,EBI-465781
DTNBP1	Q96EV8	6	EBI-465872,EBI-465804
IFT57	Q9NWB7	3	EBI-465872,EBI-725672
SNAPIN	O95295	7	EBI-465872,EBI-296723

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6QNY1-1)

Also known as: Ceap-16;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q6QNY1-2)

Also known as: Ceap-11;

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 142	142	Biogenesis of lysosome-related organelles complex 1 subunit 2		PRO_0000234543
Regions
	Coiled coil	79 – 127	49	Potential
Natural variations
	Alternative sequence	1 – 43	43	Missing in isoform 2.		VSP_018350
	Natural variant	13	1	S → R. Corresponds to variant rs33965491 [ dbSNP | Ensembl ].		VAR_054068

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Ceap-16) [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 023DDBAC66E1912B	FASTA	142	15,961
	10 20 30 40 50 60 MAAAAEGVLA TRSDEPARDD AAVETAEEAK EPAEADITEL CRDMFSKMAT YLTGELTATS 70 80 90 100 110 120 EDYKLLENMN KLTSLKYLEM KDIAINISRN LKDLNQKYAG LQPYLDQINV IEEQVAALEQ 130 140 AAYKLDAYSK KLEAKYKKLE KR
	Isoform 2 (Ceap-11) [UniParc]. Checksum: 9F88B6AF46B7FCDA	FASTA	99	11,489
	10 20 30 40 50 60 MFSKMATYLT GELTATSEDY KLLENMNKLT SLKYLEMKDI AINISRNLKD LNQKYAGLQP 70 80 90 YLDQINVIEE QVAALEQAAY KLDAYSKKLE AKYKKLEKR

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] (ISOFORM 1), IDENTIFICATION IN THE BLOC-1 COMPLEX, FUNCTION, INTERACTION WITH BLOC1S1; BLOC1S3; BLOC1S4; BLOC1S5 AND SNAPIN. Tissue: Cervix carcinoma.
[2]	"Characterization of Ceap-11 and Ceap-16, two novel splicing-variant-proteins, associated with centrosome, microtubule aggregation and cell proliferation." Wang Z., Wei H., Yu Y., Sun J., Yang Y., Xing G., Wu S., Zhou Y., Zhu Y., Zhang C., Zhou T., Zhao X., Sun Q., He F. J. Mol. Biol. 343:71-82(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH GAMMA-TUBULIN, ALTERNATIVE SPLICING (ISOFORM 1). Tissue: Fetal liver.
[3]	"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] (ISOFORM 1).
[4]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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] OF 27-142 (ISOFORM 1). Tissue: Pancreas.
[7]	"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.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY531265 mRNA. Translation: AAT00461.1. AY278457 mRNA. Translation: AAQ19606.1. AK298969 mRNA. Translation: BAG61064.1. AL138921, AL139819 Genomic DNA. Translation: CAH72396.1. Sequence problems. AL139819, AL138921 Genomic DNA. Translation: CAH72821.1. Sequence problems. CH471066 Genomic DNA. Translation: EAW49836.1. BC020494 mRNA. Translation: AAH20494.1. Different initiation.
IPI	IPI00163483. IPI00411983.
RefSeq	NP_776170.2. NM_173809.4.
UniGene	Hs.34906.
3D structure databases
ProteinModelPortal	Q6QNY1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6QNY1. 9 interactions.
MINT	MINT-2812463.
STRING	9606.ENSP00000351716.
PTM databases
PhosphoSite	Q6QNY1.
Polymorphism databases
DMDM	74749300.
Proteomic databases
PaxDb	Q6QNY1.
PeptideAtlas	Q6QNY1.
PRIDE	Q6QNY1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370372; ENSP00000359398; ENSG00000196072. ENST00000441611; ENSP00000410865; ENSG00000196072.
GeneID	282991.
KEGG	hsa:282991.
UCSC	uc001kqv.1. human.
Organism-specific databases
CTD	282991.
GeneCards	GC10M102023.
HGNC	HGNC:20984. BLOC1S2.
HPA	HPA048088.
MIM	609768. gene.
neXtProt	NX_Q6QNY1.
PharmGKB	PA134936108.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG251755.
HOGENOM	HOG000111279.
HOVERGEN	HBG079627.
InParanoid	Q6QNY1.
KO	K16750.
OMA	IALENRV.
PhylomeDB	Q6QNY1.
Gene expression databases
ArrayExpress	Q6QNY1.
Bgee	Q6QNY1.
CleanEx	HS_BLOC1S2.
Genevestigator	Q6QNY1.
GermOnline	ENSG00000196072. Homo sapiens.
Family and domain databases
InterPro	IPR019269. BLOC1_su2. [Graphical view]
Pfam	PF10046. BLOC1_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	282991.
NextBio	93554.
SOURCE	Search...

Entry information

Entry name

BL1S2_HUMAN

Accession

Primary (citable) accession number: Q6QNY1
Secondary accession number(s): B4DQV2, Q5W040, Q8WUI8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 16, 2006
Last sequence update:	July 5, 2004
Last modified:	May 29, 2013
This is version 87 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.