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Q6QNY1 (BL1S2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length142 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
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. 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

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. 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 componentCytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   PTMAcetylation
   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

extrinsic apoptotic signaling pathway via death domain receptors

Inferred from direct assay PubMed 18188704. Source: UniProtKB

melanosome organization

Non-traceable author statement Ref.1Ref.9. Source: UniProtKB

microtubule nucleation

Non-traceable author statement Ref.2. Source: UniProtKB

mitochondrial outer membrane permeabilization

Inferred from direct assay PubMed 18188704. 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-templated

Inferred from direct assay PubMed 18329849. Source: UniProtKB

   Cellular_componentBLOC-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

mitochondrion

Inferred from direct assay PubMed 18188704. Source: UniProtKB

nucleus

Inferred from direct assay PubMed 18329849. Source: UniProtKB

recycling endosome

Inferred from electronic annotation. Source: Ensembl

   Molecular_functiongamma-tubulin binding

Inferred from direct assay Ref.2. Source: UniProtKB

protein C-terminus binding

Inferred from physical interaction PubMed 18329849. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 18329849. Source: UniProtKB

Complete GO annotation...

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.10
Chain2 – 142141Biogenesis of lysosome-related organelles complex 1 subunit 2
PRO_0000234543

Regions

Coiled coil79 – 12749 Potential

Amino acid modifications

Modified residue21N-acetylalanine Ref.10

Natural variations

Alternative sequence1 – 4343Missing in isoform 2.
VSP_018350
Natural variant131S → R.
Corresponds to variant rs33965491 [ dbSNP | Ensembl ].
VAR_054068

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Ceap-16) [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 023DDBAC66E1912B

FASTA14215,961
        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 

« Hide

Isoform 2 (Ceap-11) [UniParc].

Checksum: 9F88B6AF46B7FCDA
Show »

FASTA9911,489

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] (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. 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] (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. expand/collapse author list , 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. expand/collapse author list , 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.
[10]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
+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.
CCDSCCDS7490.1. [Q6QNY1-1]
RefSeqNP_001001342.1. NM_001001342.2. [Q6QNY1-2]
NP_001269366.1. NM_001282437.1. [Q6QNY1-2]
NP_001269367.1. NM_001282438.1. [Q6QNY1-2]
NP_776170.2. NM_173809.4. [Q6QNY1-1]
UniGeneHs.34906.
Hs.715064.

3D structure databases

ProteinModelPortalQ6QNY1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129431. 18 interactions.
IntActQ6QNY1. 15 interactions.
MINTMINT-2812463.
STRING9606.ENSP00000351716.

PTM databases

PhosphoSiteQ6QNY1.

Polymorphism databases

DMDM74749300.

Proteomic databases

MaxQBQ6QNY1.
PaxDbQ6QNY1.
PeptideAtlasQ6QNY1.
PRIDEQ6QNY1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000370372; ENSP00000359398; ENSG00000196072. [Q6QNY1-1]
ENST00000441611; ENSP00000410865; ENSG00000196072. [Q6QNY1-2]
GeneID282991.
KEGGhsa:282991.
UCSCuc001kqw.2. human. [Q6QNY1-1]

Organism-specific databases

CTD282991.
GeneCardsGC10M102023.
HGNCHGNC:20984. BLOC1S2.
HPAHPA048088.
MIM609768. gene.
neXtProtNX_Q6QNY1.
PharmGKBPA134936108.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG251755.
HOGENOMHOG000111279.
HOVERGENHBG079627.
InParanoidQ6QNY1.
KOK16750.
OMANELCKDM.
OrthoDBEOG789CD7.
PhylomeDBQ6QNY1.
TreeFamTF313861.

Gene expression databases

ArrayExpressQ6QNY1.
BgeeQ6QNY1.
CleanExHS_BLOC1S2.
GenevestigatorQ6QNY1.

Family and domain databases

InterProIPR019269. BLOC1_su2.
[Graphical view]
PfamPF10046. BLOC1_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiBLOC1S2.
GenomeRNAi282991.
NextBio93554.
PROQ6QNY1.
SOURCESearch...

Entry information

Entry nameBL1S2_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 98 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM