Human Gene BLOC1S2 (uc001kqw.2) Description and Page Index
  Description: Homo sapiens biogenesis of lysosomal organelles complex-1, subunit 2 (BLOC1S2), transcript variant 1, mRNA.
RefSeq Summary (NM_173809): This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012].
Transcript (Including UTRs)
   Position: hg19 chr10:102,033,035-102,046,469 Size: 13,435 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr10:102,035,219-102,046,416 Size: 11,198 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr10:102,033,035-102,046,469)mRNA (may differ from genome)Protein (142 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 2; Short=BLOC-1 subunit 2; AltName: Full=Centrosome-associated protein;
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.
SUBUNIT: 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.
INTERACTION: P78537:BLOC1S1; NbExp=3; IntAct=EBI-465872, EBI-348630; Q6QNY0:BLOC1S3; NbExp=3; IntAct=EBI-465872, EBI-465930; Q96EV8:DTNBP1; NbExp=6; IntAct=EBI-465872, EBI-465804; Q9NWB7:IFT57; NbExp=3; IntAct=EBI-465872, EBI-725672; Q8TDH9:MUTED; NbExp=2; IntAct=EBI-465872, EBI-465861; Q9UL45:PLDN; NbExp=3; IntAct=EBI-465872, EBI-465781; O95295:SNAPIN; NbExp=7; IntAct=EBI-465872, EBI-296723;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Note=Localizes to the centrosomes in a microtubule-dependent manner.
TISSUE SPECIFICITY: Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level).
SIMILARITY: Belongs to the BLOC1S2 family.
SEQUENCE CAUTION: Sequence=AAH20494.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH72396.1; Type=Erroneous gene model prediction; Sequence=CAH72821.1; Type=Erroneous gene model prediction;

-  MalaCards Disease Associations
  MalaCards Gene Search: BLOC1S2
Diseases sorted by gene-association score: vein disease (3), taylor's syndrome (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.36 RPKM in Brain - Hypothalamus
Total median expression: 710.03 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.5053-0.406 Picture PostScript Text
3' UTR -578.202184-0.265 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019269 - BLOC1_su2

Pfam Domains:
PF10046 - Biogenesis of lysosome-related organelles complex-1 subunit 2

ModBase Predicted Comparative 3D Structure on Q6QNY1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0016491 oxidoreductase activity
GO:0043015 gamma-tubulin binding

Biological Process:
GO:0007020 microtubule nucleation
GO:0008089 anterograde axonal transport
GO:0008284 positive regulation of cell proliferation
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0031175 neuron projection development
GO:0032418 lysosome localization
GO:0032438 melanosome organization
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048490 anterograde synaptic vesicle transport
GO:0055114 oxidation-reduction process
GO:0060155 platelet dense granule organization
GO:0097345 mitochondrial outer membrane permeabilization

Cellular Component:
GO:0000930 gamma-tubulin complex
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0031083 BLOC-1 complex
GO:0099078 BORC complex
GO:1904115 axon cytoplasm

-  Descriptions from all associated GenBank mRNAs
  JD546448 - Sequence 527472 from Patent EP1572962.
AK054697 - Homo sapiens cDNA FLJ30135 fis, clone BRACE2000061.
BC020494 - Homo sapiens biogenesis of lysosomal organelles complex-1, subunit 2, mRNA (cDNA clone MGC:10120 IMAGE:3900723), complete cds.
AB593084 - Homo sapiens BLOC1S2 mRNA for biogenesis of lysosome-related organelles complex 1 subunit 2, complete cds, clone: HP05843-RBb25C08.
JD244241 - Sequence 225265 from Patent EP1572962.
AK298969 - Homo sapiens cDNA FLJ54853 complete cds, highly similar to Biogenesis of lysosome-related organellescomplex-1 subunit 2.
JD314438 - Sequence 295462 from Patent EP1572962.
JD524386 - Sequence 505410 from Patent EP1572962.
JD430694 - Sequence 411718 from Patent EP1572962.
JD147244 - Sequence 128268 from Patent EP1572962.
AY278457 - Homo sapiens 11 kDa centrosome associated protein (CEAP11) mRNA, complete cds, alternatively spliced.
JD062479 - Sequence 43503 from Patent EP1572962.
AY531265 - Homo sapiens biogenesis of lysosome-related organelles complex 1 subunit 2 mRNA, complete cds.
KJ900539 - Synthetic construct Homo sapiens clone ccsbBroadEn_09933 BLOC1S2 gene, encodes complete protein.
AB463442 - Synthetic construct DNA, clone: pF1KB8225, Homo sapiens BLOC1S2 gene for biogenesis of lysosome-related organelles complex-1, subunit 2, without stop codon, in Flexi system.
JD197500 - Sequence 178524 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DQV2, BL1S2_HUMAN, BLOS2, CEAP, NM_173809, NP_776170, Q5W040, Q6QNY1, Q8WUI8, uc001kqw.1
UCSC ID: uc001kqw.2
RefSeq Accession: NM_173809
Protein: Q6QNY1 (aka BL1S2_HUMAN)
CCDS: CCDS7490.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_173809.4
exon count: 5CDS single in 3' UTR: no RNA size: 2679
ORF size: 429CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1038.00frame shift in genome: no % Coverage: 99.51
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.