Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to pla... See more...
Aliases for BLOC1S3 Gene
Aliases for BLOC1S3 Gene
- Biogenesis Of Lysosomal Organelles Complex 1 Subunit 3 2 3 5
- BLOC-1 Subunit 3 2 3 4
- Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 3 3 4
- BLOS3 3 4
- Biogenesis Of Lysosome-Related Organelles Complex-1, Subunit 3 3
- Biogenesis Of Lysosome-Related Organelles Complex-1 Subunit 3 2
- Reduced Pigmentation, Mouse, Homolog Of 3
External Ids for BLOC1S3 Gene
- HGNC: 20914
- Entrez Gene: 388552
- Ensembl: ENSG00000189114
- OMIM: 609762
- UniProtKB: Q6QNY0
Previous GeneCards Identifiers for BLOC1S3 Gene
- GC19P050373
- GC19P050374
- GC19P045682
- GC19P042112
Summaries for BLOC1S3 Gene
-
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
GeneCards Summary for BLOC1S3 Gene
BLOC1S3 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 3) is a Protein Coding gene. Diseases associated with BLOC1S3 include Hermansky-Pudlak Syndrome 8 and Hermansky-Pudlak Syndrome. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport.
UniProtKB/Swiss-Prot Summary for BLOC1S3 Gene
-
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.
Additional gene information for BLOC1S3 Gene
- Monarch Initiative
- Search for BLOC1S3 at DataMed
- Search for BLOC1S3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BLOC1S3 Gene
Genomics for BLOC1S3 Gene
GeneHancer (GH) Regulatory Elements for BLOC1S3 Gene
Promoters and enhancers for BLOC1S3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BLOC1S3 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BLOC1S3
- Top Transcription factor binding sites by QIAGEN in the BLOC1S3 gene promoter:
-
- AP-2rep
- c-Rel
- Elk-1
- ER-alpha
- NF-1
- NF-1/L
- PPAR-alpha
Genomic Locations for BLOC1S3 Gene
Genomic Locations for BLOC1S3 Gene
- chr19:45,178,745-45,217,078
- (GRCh38/hg38)
- Size:
- 38,334 bases
- Orientation:
- Plus strand
- chr19:45,682,003-45,685,059
- (GRCh37/hg19)
- Size:
- 3,057 bases
- Orientation:
- Plus strand
Genomic View for BLOC1S3 Gene
Genes around BLOC1S3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.32 by HGNC
- 19q13.32 by Entrez Gene
- 19q13.32 by Ensembl
BLOC1S3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BLOC1S3 Gene
Proteins for BLOC1S3 Gene
-
Protein details for BLOC1S3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6QNY0-BL1S3_HUMAN
- Recommended name:
- Biogenesis of lysosome-related organelles complex 1 subunit 3
- Protein Accession:
- Q6QNY0
- B2RXB8
Protein attributes for BLOC1S3 Gene
- Size:
- 202 amino acids
- Molecular mass:
- 21256 Da
- Quaternary structure:
-
- Interacts with BLOC1S4, BLOC1S5 and BLOC1S6 (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 BLOC1S2.
Protein Expression for BLOC1S3 Gene
Post-translational modifications for BLOC1S3 Gene
Other Protein References for BLOC1S3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-BLOC1S3 (aa 48-97) polyclonal antibody
- Novus Biologicals Antibodies for BLOC1S3
- Invitrogen Antibodies for BLOC1S3 (AFLGC-BLOC1S3)
-
Biorbyt antibodies for BLOC1S3
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for BLOC1S3
- Origene Custom Protein Services for BLOC1S3
- Novus Biologicals proteins for BLOC1S3
- antibodies-online: Show 5 available BLOC1S3 Proteins ranked by validation data
- Compare Top BLOC1S3 Proteins
-
Quality Products:
No data available for DME Specific Peptides for BLOC1S3 Gene
Domains & Families for BLOC1S3 Gene
Gene Families for BLOC1S3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for BLOC1S3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for BLOC1S3 Gene
- GenScript: Design optimal peptide antigens:
-
- Biogenesis of lysosome-related organelles complex 1 subunit 3 (BL1S3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6QNY0- Family:
-
- Belongs to the BLOC1S3 family.
Function for BLOC1S3 Gene
Molecular function for BLOC1S3 Gene
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for BLOC1S3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005515 | protein binding | IPI | 15102850 |
| GO:0008320 | protein transmembrane transporter activity | IEA | -- |
Phenotypes for BLOC1S3 Gene
- MGI mutant phenotypes for BLOC1S3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for BLOC1S3:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BLOC1S3 - Select products 50% OFF >
- * BLOC1S3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BLOC1S3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BLOC1S3
- genomics-online: gRNA clones - Search for available BLOC1S3 gRNA products
- Overview of 66 available BLOC1S3 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for BLOC1S3
miRNA for BLOC1S3 Gene
- miRTarBase miRNAs that target BLOC1S3
-
- hsa-mir-378a-3p (MIRT043947)
- hsa-mir-1247-3p (MIRT118004)
- hsa-mir-1273e (MIRT118006)
- hsa-mir-3940-3p (MIRT118010)
- hsa-mir-6746-5p (MIRT118013)
- hsa-mir-17-5p (MIRT151798)
- hsa-mir-20a-5p (MIRT151799)
- hsa-mir-93-5p (MIRT151801)
- hsa-mir-106b-5p (MIRT151807)
- hsa-mir-20b-5p (MIRT151815)
- hsa-mir-519d-3p (MIRT151826)
- hsa-mir-665 (MIRT151835)
- hsa-mir-6807-5p (MIRT508590)
- hsa-mir-6864-3p (MIRT508591)
- hsa-mir-3672 (MIRT508592)
- hsa-mir-1233-3p (MIRT508593)
- hsa-mir-1225-3p (MIRT508594)
- hsa-mir-4524a-3p (MIRT508595)
- hsa-mir-203b-3p (MIRT674155)
- hsa-mir-7158-3p (MIRT674156)
- hsa-mir-6771-5p (MIRT674157)
- hsa-mir-7160-5p (MIRT674158)
- hsa-mir-4722-5p (MIRT674159)
- hsa-mir-6884-5p (MIRT674160)
- hsa-mir-485-5p (MIRT674161)
- hsa-mir-1827 (MIRT674162)
- hsa-mir-4680-5p (MIRT674163)
- hsa-mir-4649-3p (MIRT674164)
- hsa-mir-4768-3p (MIRT674165)
- hsa-mir-4478 (MIRT674166)
- hsa-mir-4419b (MIRT674167)
- hsa-mir-3929 (MIRT674168)
- hsa-mir-940 (MIRT674169)
- hsa-mir-6893-5p (MIRT674170)
- hsa-mir-6808-5p (MIRT674171)
- hsa-mir-500a-5p (MIRT674172)
- hsa-mir-1268b (MIRT682783)
- hsa-mir-1268a (MIRT682784)
- hsa-mir-6514-3p (MIRT682785)
- hsa-mir-876-3p (MIRT682786)
- hsa-mir-323a-5p (MIRT682787)
- hsa-mir-6811-3p (MIRT682788)
- hsa-mir-214-5p (MIRT682789)
- hsa-mir-4755-3p (MIRT682790)
- hsa-mir-575 (MIRT682791)
- hsa-mir-4676-5p (MIRT682792)
- hsa-mir-6858-3p (MIRT682793)
- hsa-mir-562 (MIRT682794)
- hsa-mir-548n (MIRT682795)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BLOC1S3
- Browse OriGene Inhibitory RNA Products For BLOC1S3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BLOC1S3
- genomics-online: shRNA clones - Search for available BLOC1S3 shRNA products
- Overview of 66 available BLOC1S3 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for BLOC1S3 - Select products 50% OFF >
- * BLOC1S3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for BLOC1S3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BLOC1S3
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BLOC1S3 Gene
Localization for BLOC1S3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BLOC1S3 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 3 |
| endosome | 2 |
| lysosome | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0030133 | transport vesicle | IDA | 17182842 |
| GO:0031083 | BLOC-1 complex | IDA | 15102850 |
Pathways & Interactions for BLOC1S3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin derived vesicle budding | ||
| 2 | Vesicle-mediated transport | ||
Pathways by source for BLOC1S3 Gene
5 Reactome pathways for BLOC1S3 Gene
Interacting Proteins for BLOC1S3 Gene
Selected Interacting proteins:
Q6QNY0-BL1S3_HUMAN
ENSP00000393840
for BLOC1S3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BLOC1S3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001654 | eye development | IMP | 16385460 |
| GO:0007596 | blood coagulation | IEA | -- |
| GO:0008089 | anterograde axonal transport | ISS | -- |
| GO:0030168 | platelet activation | IMP | 16385460 |
| GO:0031175 | neuron projection development | ISS | -- |
No data available for SIGNOR curated interactions for BLOC1S3 Gene
Transcripts for BLOC1S3 Gene
mRNA/cDNA for BLOC1S3 Gene
- 1 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000433642 2601 bps (ENST00000433642.2)
- ENST00000587722 732 bps (ENST00000587722.1)
- ENST00000588362 473 bps (ENST00000588362.1)
- ENST00000591569 540 bps (ENST00000591569.1)
- ENST00000592910 469 bps (ENST00000592910.1)
- 3 RNACentral transcripts :
- 2 LncBook transcripts :
- 2 LNCipedia transcripts :
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BLOC1S3 - Select products 50% OFF >
- * BLOC1S3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BLOC1S3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BLOC1S3
- genomics-online: gRNA clones - Search for available BLOC1S3 gRNA products
- Overview of 66 available BLOC1S3 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for BLOC1S3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BLOC1S3
- Browse OriGene Inhibitory RNA Products For BLOC1S3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BLOC1S3
- genomics-online: shRNA clones - Search for available BLOC1S3 shRNA products
- Overview of 66 available BLOC1S3 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for BLOC1S3 - Select products 50% OFF >
- * BLOC1S3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for BLOC1S3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BLOC1S3
Relevant External Links for BLOC1S3 Gene
- GeneLoc Exon Structure for
- BLOC1S3
Expression for BLOC1S3 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (25.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BLOC1S3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BLOC1S3
SOURCE GeneReport for Unigene cluster for BLOC1S3 Gene:
Hs.103902Evidence on tissue expression from TISSUES for BLOC1S3 Gene
- Liver(4.1)
- Nervous system(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BLOC1S3 Gene
Germ Layers:
- ectoderm
Systems:
- integumentary
- nervous
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- head
General:
- hair
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for BLOC1S3
- genomics-online: primer clones - Search for available BLOC1S3 Primer products
- Overview of 66 available BLOC1S3 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BLOC1S3 Gene
Orthologs for BLOC1S3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BLOC1S3 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BLOC1S3 31 |
|
OneToOne | |
| LOC100847456 30 |
|
||||
| dog (Canis familiaris) |
Mammalia | BLOC1S3 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Bloc1s3 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Bloc1s3 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | BLOC1S3 31 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | BLOC1S3 31 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | bloc1s3 31 |
|
OneToOne |
- Species where no ortholog for BLOC1S3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for BLOC1S3 Gene
- ENSEMBL:
- Gene Tree for BLOC1S3 (if available)
- TreeFam:
- Gene Tree for BLOC1S3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BLOC1S3: view image
Paralogs for BLOC1S3 Gene
No data available for Paralogs for BLOC1S3 Gene
Variants for BLOC1S3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BLOC1S3 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 627065 | Uncertain Significance: Hermansky-Pudlak syndrome | 45,179,728(+) | T/TAGGCTGGCGGCAG | INFRAME_INSERTION | |
| 748524 | Likely Benign: not provided | 45,179,309(+) | G/A | MISSENSE_VARIANT | |
| rs111903160 | Likely Benign: Hermansky-Pudlak syndrome | 45,180,851(+) | C/T | THREE_PRIME_UTR_VARIANT | |
| rs115683085 | Likely Benign: Hermansky-Pudlak syndrome | 45,180,370(+) | A/T | THREE_PRIME_UTR_VARIANT | |
| rs116105443 | Likely Benign: Hermansky-Pudlak syndrome | 45,178,835(+) | C/G | INTRON_VARIANT |
Gene Damage Index Score:
1.79;
33.84% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BLOC1S3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLOC1S3 Gene
Disorders for BLOC1S3 Gene
(12) MalaCards diseases for BLOC1S3 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hermansky-pudlak syndrome 8 |
|
|
| hermansky-pudlak syndrome |
|
|
| oculocutaneous albinism |
|
|
| storage pool platelet disease |
|
|
| alzheimer's disease 1 |
|
|
Search BLOC1S3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
BL1S3_HUMAN- Hermansky-Pudlak syndrome 8 (HPS8) [MIM:614077]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269 PubMed:16385460}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for BLOC1S3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for BLOC1S3 Gene
Publications for BLOC1S3 Gene
- 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). (PMID: 15102850) Starcevic M … Dell'Angelica EC (The Journal of biological chemistry 2004) 2 3 4 23 54
- Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PMID: 22203680) Lee HH … Hurley JH (The Journal of biological chemistry 2012) 3 4 54
- Genome-wide analysis of genetic loci associated with Alzheimer disease. (PMID: 20460622) Seshadri S … EADI1 Consortium (JAMA 2010) 3 41 54
- Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PMID: 19197348) Lowe JK … Friedman JM (PLoS genetics 2009) 3 41 54
- BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. (PMID: 17182842) Setty SR … Marks MS (Molecular biology of the cell 2007) 3 4 54
ExternalLinks
Products for BLOC1S3 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for BLOC1S3
- Origene Custom Protein Services for BLOC1S3
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BLOC1S3
- Browse OriGene Inhibitory RNA Products For BLOC1S3
- OriGene qPCR primer pairs for BLOC1S3
- OriGene CRISPR knockouts for BLOC1S3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For BLOC1S3
- Sino Biological Human cDNA Clone for BLOC1S3
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for BLOC1S3
- Novus Biologicals proteins for BLOC1S3
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for BLOC1S3 (AFLGC-BLOC1S3)
- VectorBuilder Custom and pre-made DNA vectors for BLOC1S3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for BLOC1S3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for BLOC1S3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for BLOC1S3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for BLOC1S3
- antibodies-online: Show 9 available BLOC1S3 Antibodies ranked by validation data
- Compare Top BLOC1S3 Antibodies
- antibodies-online: Search results for available BLOC1S3 related products ranked by validation data
- antibodies-online: Show 5 available BLOC1S3 Proteins ranked by validation data
- Compare Top BLOC1S3 Proteins
- Quality Products:
- Browse Santa Cruz Biotechnology (SCBT) Antibodies
- Search Santa Cruz Biotechnology (SCBT) for BLOC1S3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for BLOC1S3
- genomics-online: cdna clones - Search for available BLOC1S3 CDNA products
- Overview of 66 available BLOC1S3 gene related products
- orf clones - Search for available BLOC1S3 ORF products
- Overview of 66 available BLOC1S3 gene related products
- genomics-online: gRNA clones - Search for available BLOC1S3 gRNA products
- Overview of 66 available BLOC1S3 gene related products
- genomics-online: primer clones - Search for available BLOC1S3 Primer products
- Overview of 66 available BLOC1S3 gene related products
- genomics-online: shRNA clones - Search for available BLOC1S3 shRNA products
- Overview of 66 available BLOC1S3 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BLOC1S3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BLOC1S3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for BLOC1S3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BLOC1S3
- Biorbyt antibodies for BLOC1S3
Sources for BLOC1S3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
- (118) Gene Damage Index
- (119) HPO
- (120) UDN
- (121) VISTA
- (122) FANTOM5
- (123) ENCODE
- (124) ProSci
- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
- (127) IID
- (128) VectorBuilder
- (129) SNPedia
- (130) BRCA Exchange
- (131) CIViC
- (132) ProteoGenix
- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
- (166) LncBase
- (167) LncBook
- (168) LNCipedia
- (169) LncRNAdb
- (170) Modomics
- (171) PDBe
- (172) Rfam
- (173) SILVA
- (174) snOPY
- (175) SRPDB
- (176) GENCODE
- (177) TarBase
- (178) MyBioSource
- (179) Signalway Antibody