BLOC1S3 Gene
protein-coding GIFtS: 50
GCID: GC19P045682
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biogenesis of lysosomal organelles complex-1, subunit 3
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Aliases
for BLOC1S3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Biogenesis Of Lysosomal Organelles Complex-1, Subunit 31 2 | | RP2 | | BLOS31 2 3 5 | | Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 32 | | HPS81 2 5 | | Biogenesis Of Lysosome-Related Organelles Complex-1, Subunit 32 | | BLOC-1 Subunit 32 3 | | Reduced Pigmentation, Mouse, Homolog Of2 |
Export aliases for BLOC1S3 gene to outside databasesPrevious GC identifers: GC19P050373 GC19P050374 GC19P042112 |
Summaries
for BLOC1S3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BLOC1S3:
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessaryfor the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules andmelanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storagedefects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: BL1S3_HUMAN, Q6QNY0Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-relatedorganelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery intoneurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involvedin neurite extension. Plays a role in intracellular vesicle trafficking
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Genomic Views
for BLOC1S3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BLOC1S3 gene promoter:
AP-2rep PPAR-alpha ER-alpha c-Rel NF-1 NF-1/L Elk-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for BLOC1S3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BLOC1S3 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.32 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.32BLOC1S3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P045682: view genomic region
(about GC identifiers)
Start:
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45,682,003 bp from pter |
End:
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45,685,059 bp from pter |
Size:
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3,057 bases |
Orientation:
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plus strand |
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Proteins
for BLOC1S3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BL1S3_HUMAN, Q6QNY0 (See
protein sequence)Recommended Name: Biogenesis of lysosome-related organelles complex 1 subunit 3 Size: 202 amino acids; 21256 Da
Subunit: Interacts with BLOC1S4, BLOC1S5 and BLOC1S6 (By similarity). Component of the biogenesis of lysosome-relatedorganelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 andSNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interactsdirectly with BLOC1S2
Subcellular location: Cytoplasm (By similarity)
Secondary accessions: B2RXB8Explore the universe of human proteins at neXtProt for BLOC1S3: NX_Q6QNY0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6QNY0
BLOC1S3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_997715.1
ENSEMBL proteins: ENSP00000393840 ENSP00000468281 ENSP00000466798 Reactome Protein details: Q6QNY0
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
BLOC1S3 for ontologies About GeneDecksing
BLOC1S3 Antibody Products:
Assay Products for BLOC1S3: |
Protein
Domains /
Families
for BLOC1S3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BLOC1S3 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q6QNY0ProtoNet protein and cluster: Q6QNY0 UniProtKB/Swiss-Prot: BL1S3_HUMAN, Q6QNY0Similarity: Belongs to the BLOC1S3 family |
Function
for BLOC1S3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: BL1S3_HUMAN, Q6QNY0Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-relatedorganelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery intoneurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involvedin neurite extension. Plays a role in intracellular vesicle trafficking
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BLOC1S3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLOC1S3 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- | | GO:0005515 | protein binding |
IPI | -- |
BLOC1S3 for ontologies About GeneDecksing
Animal Models:
9 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Bloc1s3):
BLOC1S3 for phenotypes About GeneDecksing
|
Pathways & Interactions
for BLOC1S3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Clathrin derived vesicle budding | | | 2 | Membrane Trafficking | |
Pathway sources
See GeneCards unified pathways
Show all pathways
4 
Reactome Pathways for BLOC1S3
BLOC1S3 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BLOC1S3
5/6 Interacting proteins for BLOC1S3 (Q6QNY01, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 6)About this table
Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table
BLOC1S3 for ontologies About GeneDecksing
|
Drugs & Compounds
for BLOC1S3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BLOC1S3
Search CenterWatch for drugs/clinical trials and news about BLOC1S3 / BL1S3
|
Transcripts
for BLOC1S3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BLOC1S3 gene: NM_212550.3 Unigene Cluster for BLOC1S3: Biogenesis of lysosomal organelles complex-1, subunit 3 Hs.103902 [show with all ESTs]Unigene Representative Sequence: NM_2125504 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000433642(uc002pax.4) ENST00000587722 ENST00000592910 ENST00000588362
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BLOC1S3 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BLOC1S3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: BLOC1S3 (NM_212550) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BLOC1S3 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLOC1S3 |
Additional cDNA sequence: AK130151.1 AK130186.1 AK296695.1 AY531266.1 BC151151.1 BC151152.1 5 DOTS entries: DT.75101484 DT.97836392 DT.207472 DT.75119522 DT.92420260 24/62 AceView cDNA sequences (see all 62): AI202061 AW197592 AI360102 BE672856 AI817656 BU616355 AA436198 AI143668 CB142858 AI917188 CB132267 AI798038 BG260049 BF434644 BQ184431 AI828850 BI905960 AA436323 BF431122 AW291673 BF062383 AI968875 BF515258 BF059085
GeneLoc Exon Structure
|
Expression
for BLOC1S3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BLOC1S3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTTCCTTCC
About this image
See BLOC1S3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BLOC1S3
SOURCE GeneReport for Unigene cluster: Hs.103902
SABiosciences Custom PCR Arrays for BLOC1S3
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BLOC1S3
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BLOC1S3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BLOC1S3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BLOC1S3 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLOC1S3 |
Orthologs
for BLOC1S3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for BLOC1S3 gene from 4/9 species (see all 9) About this table
ENSEMBL Gene Tree for BLOC1S3 (if available)
TreeFam Gene Tree for BLOC1S3 (if available) |
Paralogs
for BLOC1S3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for BLOC1S3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BLOC1S3 (45682003 - 45685059 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for BLOC1S3
2 CNVs: 5103 5343
1 Indel: 67566
Human Gene Mutation Database (HGMD): BLOC1S3
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BLOC1S3 |
|
Disorders
/ Diseases
for BLOC1S3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BLOC1S3 for disorders About GeneDecksing
OMIM gene information: 609762
OMIM disorders: 203300
UniProtKB/Swiss-Prot: BL1S3_HUMAN, Q6QNY0
Defects in BLOC1S3 are the cause of Hermansky-Pudlak syndrome type 8 (HPS8) [MIM:614077]. Hermansky-Pudlaksyndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneousalbinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results fromdefects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storagein the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS
9  diseases for BLOC1S3: About MalaCardshermansky-pudlak syndrome 8 hermansky-pudlak syndrome platelet storage pool deficiency oculocutaneous albinism
albinism hemorrhoid shigellosis alzheimer's disease
schizophrenia
3 diseases from the University of Copenhagen DISEASES database for BLOC1S3:Hermansky-Pudlak syndrome Oculocutaneous albinism Platelet storage pool deficiency GeneTests: BLOC1S3
Hermansky-Pudlak Syndrome
Human Genome Epidemiology (HuGE) Navigator: BLOC1S3 (2 documents)
Export disorders for BLOC1S3 gene to outside databases
|
Publications
for BLOC1S3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BLOC1S3 gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with BLOC1S3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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). (PubMed id 15102850)1, 2, 3, 9 Starcevic M. and Dell'Angelica E.C. (2004)
- BLOC-1 is required for cargo-specific sorting from va cuolar early endosomes toward lysosome-related organelles. (PubMed id 17182842)1, 2 Setty S.R....Marks M.S. (2007)
- A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). (PubMed id 16385460)1, 2 Morgan N.V....Maher E.R. (2006)
- Assembly and architecture of biogenesis of lysosome-re lated organelles complex-1 (BLOC-1). (PubMed id 22203680)2 Lee H.H....Hurley J.H. (2012)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- Genome-wide analysis of genetic loci associated with Alzheimer disease. (PubMed id 20460622)1 Seshadri S....Breteler M.M. (2010)
- Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
- Genome-wide association studies in an isolated founde r population from the Pacific Island of Kosrae. (PubMed id 19197348)1 Lowe J.K....Friedman J.M. (2009)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (2006)
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External Searches for BLOC1S3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BLOC1S3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BLOC1S3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BLOC1S3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BLOC1S3 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BLOC1S3 |
|
| | |
About This Section
| Patent Information for BLOC1S3 gene:
Search GeneIP for patents involving BLOC1S3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BLOC1S3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLOC1S3 |
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