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Q6QNY1

- BL1S2_HUMAN

UniProt

Q6QNY1 - BL1S2_HUMAN

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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 2

Gene

BLOC1S2

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. May play a role in cell proliferation.3 Publications

GO - Molecular functioni

  1. gamma-tubulin binding Source: UniProtKB
  2. protein C-terminus binding Source: UniProtKB

GO - Biological processi

  1. anterograde axon cargo transport Source: UniProtKB
  2. anterograde synaptic vesicle transport Source: UniProtKB
  3. extrinsic apoptotic signaling pathway via death domain receptors Source: UniProtKB
  4. melanosome organization Source: UniProtKB
  5. microtubule nucleation Source: UniProtKB
  6. mitochondrial outer membrane permeabilization Source: UniProtKB
  7. neuron projection development Source: UniProtKB
  8. platelet dense granule organization Source: UniProtKB
  9. positive regulation of cell proliferation Source: UniProtKB
  10. positive regulation of transcription, DNA-templated Source: UniProtKB
  11. positive regulation of transcription from RNA polymerase II promoter Source: RefGenome
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 2
Short name:
BLOC-1 subunit 2
Alternative name(s):
Centrosome-associated protein
Gene namesi
Name:BLOC1S2
Synonyms:BLOS2, CEAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:20984. BLOC1S2.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 1 Publication
Note: Localizes to the centrosomes in a microtubule-dependent manner.

GO - Cellular componenti

  1. BLOC-1 complex Source: UniProtKB
  2. centrosome Source: UniProtKB
  3. gamma-tubulin complex Source: UniProtKB
  4. mitochondrion Source: UniProtKB
  5. nucleus Source: UniProtKB
  6. recycling endosome Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134936108.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 142141Biogenesis of lysosome-related organelles complex 1 subunit 2PRO_0000234543Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ6QNY1.
PaxDbiQ6QNY1.
PeptideAtlasiQ6QNY1.
PRIDEiQ6QNY1.

PTM databases

PhosphoSiteiQ6QNY1.

Expressioni

Tissue specificityi

Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level).1 Publication

Gene expression databases

BgeeiQ6QNY1.
CleanExiHS_BLOC1S2.
ExpressionAtlasiQ6QNY1. baseline and differential.
GenevestigatoriQ6QNY1.

Organism-specific databases

HPAiHPA048088.

Interactioni

Subunit structurei

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.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BLOC1S1P785373EBI-465872,EBI-348630
BLOC1S3Q6QNY03EBI-465872,EBI-465930
BLOC1S5Q8TDH92EBI-465872,EBI-465861
BLOC1S6Q9UL453EBI-465872,EBI-465781
DTNBP1Q96EV86EBI-465872,EBI-465804
IFT57Q9NWB73EBI-465872,EBI-725672
SNAPINO952957EBI-465872,EBI-296723

Protein-protein interaction databases

BioGridi129431. 22 interactions.
IntActiQ6QNY1. 15 interactions.
MINTiMINT-2812463.
STRINGi9606.ENSP00000351716.

Structurei

3D structure databases

ProteinModelPortaliQ6QNY1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili79 – 12749Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the BLOC1S2 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG251755.
GeneTreeiENSGT00390000005889.
HOGENOMiHOG000111279.
HOVERGENiHBG079627.
InParanoidiQ6QNY1.
KOiK16750.
OMAiNELCKDM.
OrthoDBiEOG789CD7.
PhylomeDBiQ6QNY1.
TreeFamiTF313861.

Family and domain databases

InterProiIPR019269. BLOC1_su2.
[Graphical view]
PfamiPF10046. BLOC1_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6QNY1-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAAAAEGVLA TRSDEPARDD AAVETAEEAK EPAEADITEL CRDMFSKMAT
60 70 80 90 100
YLTGELTATS EDYKLLENMN KLTSLKYLEM KDIAINISRN LKDLNQKYAG
110 120 130 140
LQPYLDQINV IEEQVAALEQ AAYKLDAYSK KLEAKYKKLE KR
Length:142
Mass (Da):15,961
Last modified:July 5, 2004 - v1
Checksum:i023DDBAC66E1912B
GO
Isoform 2 (identifier: Q6QNY1-2) [UniParc]FASTAAdd to Basket

Also known as: Ceap-11

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

Show »
Length:99
Mass (Da):11,489
Checksum:i9F88B6AF46B7FCDA
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131S → R.
Corresponds to variant rs33965491 [ dbSNP | Ensembl ].
VAR_054068

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4343Missing in isoform 2. 1 PublicationVSP_018350Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS7490.1. [Q6QNY1-1]
RefSeqiNP_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]
UniGeneiHs.34906.
Hs.715064.

Genome annotation databases

EnsembliENST00000370372; ENSP00000359398; ENSG00000196072. [Q6QNY1-1]
ENST00000441611; ENSP00000410865; ENSG00000196072. [Q6QNY1-2]
ENST00000614731; ENSP00000481847; ENSG00000196072. [Q6QNY1-2]
GeneIDi282991.
KEGGihsa:282991.
UCSCiuc001kqw.2. human. [Q6QNY1-1]

Polymorphism databases

DMDMi74749300.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS7490.1. [Q6QNY1-1 ]
RefSeqi NP_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 ]
UniGenei Hs.34906.
Hs.715064.

3D structure databases

ProteinModelPortali Q6QNY1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129431. 22 interactions.
IntActi Q6QNY1. 15 interactions.
MINTi MINT-2812463.
STRINGi 9606.ENSP00000351716.

PTM databases

PhosphoSitei Q6QNY1.

Polymorphism databases

DMDMi 74749300.

Proteomic databases

MaxQBi Q6QNY1.
PaxDbi Q6QNY1.
PeptideAtlasi Q6QNY1.
PRIDEi Q6QNY1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000370372 ; ENSP00000359398 ; ENSG00000196072 . [Q6QNY1-1 ]
ENST00000441611 ; ENSP00000410865 ; ENSG00000196072 . [Q6QNY1-2 ]
ENST00000614731 ; ENSP00000481847 ; ENSG00000196072 . [Q6QNY1-2 ]
GeneIDi 282991.
KEGGi hsa:282991.
UCSCi uc001kqw.2. human. [Q6QNY1-1 ]

Organism-specific databases

CTDi 282991.
GeneCardsi GC10M102023.
HGNCi HGNC:20984. BLOC1S2.
HPAi HPA048088.
MIMi 609768. gene.
neXtProti NX_Q6QNY1.
PharmGKBi PA134936108.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG251755.
GeneTreei ENSGT00390000005889.
HOGENOMi HOG000111279.
HOVERGENi HBG079627.
InParanoidi Q6QNY1.
KOi K16750.
OMAi NELCKDM.
OrthoDBi EOG789CD7.
PhylomeDBi Q6QNY1.
TreeFami TF313861.

Miscellaneous databases

GeneWikii BLOC1S2.
GenomeRNAii 282991.
NextBioi 93554.
PROi Q6QNY1.
SOURCEi Search...

Gene expression databases

Bgeei Q6QNY1.
CleanExi HS_BLOC1S2.
ExpressionAtlasi Q6QNY1. baseline and differential.
Genevestigatori Q6QNY1.

Family and domain databases

InterProi IPR019269. BLOC1_su2.
[Graphical view ]
Pfami PF10046. BLOC1_2. 1 hit.
[Graphical view ]
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] (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. 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. 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. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiBL1S2_HUMAN
AccessioniPrimary (citable) accession number: Q6QNY1
Secondary accession number(s): B4DQV2, Q5W040, Q8WUI8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: July 5, 2004
Last modified: October 29, 2014
This is version 100 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 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3