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Aliases for BLOC1S3 Gene

Aliases for BLOC1S3 Gene

  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 3 2 3
  • BLOC-1 Subunit 3 2 3 4
  • BLOS3 3 4 6
  • HPS8 3 6
  • Biogenesis Of Lysosome-Related Organelles Complex-1, Subunit 3 3
  • Biogenesis Of Lysosome-Related Organelles Complex-1 Subunit 3 2
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 3 3
  • Reduced Pigmentation, Mouse, Homolog Of 3
  • Hermansky-Pudlak Syndrome 8 2
  • RP 3

External Ids for BLOC1S3 Gene

Summaries for BLOC1S3 Gene

Entrez Gene Summary 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 platelet storage pool deficiency. Among its related pathways are Clathrin derived vesicle budding and Clathrin derived vesicle budding.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLOC1S3 Gene

Genomics for BLOC1S3 Gene

Genomic Location for BLOC1S3 Gene

Start:
45,178,745 bp from pter
End:
45,181,801 bp from pter
Size:
3,057 bases
Orientation:
Plus strand

Genomic View for BLOC1S3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BLOC1S3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLOC1S3 Gene

Regulatory Elements 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
    Secondary Accessions:
    • 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.

neXtProt entry for BLOC1S3 Gene

Proteomics data for BLOC1S3 Gene at MOPED

Post-translational modifications for BLOC1S3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BLOC1S3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for BLOC1S3 Gene

Domains for BLOC1S3 Gene

Gene Families for BLOC1S3 Gene

HGNC:
  • BLOC1S :Biogenesis of lysosomal organelles complex-1 subunits

Protein Domains for BLOC1S3 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

BL1S3_HUMAN
Family:
  • Belongs to the BLOC1S3 family.:
    • Q6QNY0
genes like me logo Genes that share domains with BLOC1S3: view

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.

Gene Ontology (GO) - Molecular Function for BLOC1S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 15102850
genes like me logo Genes that share ontologies with BLOC1S3: view
genes like me logo Genes that share phenotypes with BLOC1S3: view

miRNA for BLOC1S3 Gene

miRTarBase miRNAs that target BLOC1S3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for BLOC1S3 Gene

Localization for BLOC1S3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLOC1S3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BLOC1S3 Gene COMPARTMENTS Subcellular localization image for BLOC1S3 gene
Compartment Confidence
cytosol 5
nucleus 3
lysosome 2
mitochondrion 2
vacuole 2

Gene Ontology (GO) - Cellular Components for BLOC1S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0030133 transport vesicle IDA 17182842
GO:0031083 BLOC-1 complex IDA 15102850
genes like me logo Genes that share ontologies with BLOC1S3: view

Pathways for BLOC1S3 Gene

genes like me logo Genes that share pathways with BLOC1S3: view

Gene Ontology (GO) - Biological Process for BLOC1S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IMP 16385460
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0007596 blood coagulation --
GO:0008089 anterograde axon cargo transport ISS --
GO:0030168 platelet activation IMP 16385460
genes like me logo Genes that share ontologies with BLOC1S3: view

Transcripts for BLOC1S3 Gene

Unigene Clusters for BLOC1S3 Gene

Biogenesis of lysosomal organelles complex-1, subunit 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S3 Gene

No ASD Table

Relevant External Links for BLOC1S3 Gene

GeneLoc Exon Structure for
BLOC1S3
ECgene alternative splicing isoforms for
BLOC1S3

Expression for BLOC1S3 Gene

mRNA expression in normal human tissues for BLOC1S3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BLOC1S3 Gene

SOURCE GeneReport for Unigene cluster for BLOC1S3 Gene Hs.103902

genes like me logo Genes that share expressions with BLOC1S3: view

Orthologs for BLOC1S3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BLOC1S3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BLOC1S3 36
  • 99.5 (n)
  • 99.5 (a)
BLOC1S3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BLOC1S3 37
  • 92 (a)
OneToOne
LOC100847456 36
  • 86.83 (n)
  • 91.5 (a)
dog
(Canis familiaris)
Mammalia BLOC1S3 36
  • 90.28 (n)
  • 93.47 (a)
BLOC1S3 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bloc1s3 36
  • 82.88 (n)
  • 91.8 (a)
Bloc1s3 16
Bloc1s3 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLOC1S3 37
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bloc1s3 36
  • 82.51 (n)
  • 91.8 (a)
lizard
(Anolis carolinensis)
Reptilia BLOC1S3 37
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bloc1s3 37
  • 34 (a)
OneToOne
Species with no ortholog for BLOC1S3:
  • 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)

Paralogs for BLOC1S3 Gene

No data available for Paralogs for BLOC1S3 Gene

Variants for BLOC1S3 Gene

Sequence variations from dbSNP and Humsavar for BLOC1S3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs7248168 -- 45,182,037(+) cagtc(C/T)ctgcc downstream-variant-500B
rs10404558 -- 45,181,553(+) CCTGG(A/G)TGCTA utr-variant-3-prime
rs10425237 -- 45,181,358(+) CCCCT(C/G)CAGGC utr-variant-3-prime
rs11669523 -- 45,181,203(+) TACTG(G/T)CTCCA utr-variant-3-prime
rs58074751 -- 45,180,577(+) TCTGA(A/G)TTTGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for BLOC1S3 Gene

Variant ID Type Subtype PubMed ID
nsv912142 CNV Loss 21882294
nsv833842 CNV Loss 17160897
nsv833843 CNV Loss 17160897
nsv912143 CNV Loss 21882294
nsv912144 CNV Loss 21882294
esv1005203 CNV Deletion 20482838
esv2422482 CNV Duplication 17116639
esv29928 CNV Loss 19812545
nsv833844 CNV Loss 17160897

Relevant External Links for BLOC1S3 Gene

HapMap Linkage Disequilibrium report
BLOC1S3
Human Gene Mutation Database (HGMD)
BLOC1S3

Disorders for BLOC1S3 Gene

(1) OMIM Diseases for BLOC1S3 Gene (609762)

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.

Relevant External Links for BLOC1S3

GeneTests
BLOC1S3
GeneReviews
BLOC1S3
Genetic Association Database (GAD)
BLOC1S3
Human Genome Epidemiology (HuGE) Navigator
BLOC1S3
genes like me logo Genes that share disorders with BLOC1S3: view

Publications for BLOC1S3 Gene

  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). (PMID: 15102850) Starcevic M. … Dell'Angelica E.C. (J. Biol. Chem. 2004) 2 3 4 23
  2. Genome-wide analysis of genetic loci associated with Alzheimer disease. (PMID: 20460622) Seshadri S. … . (JAMA 2010) 3 49
  3. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). (PMID: 16385460) Morgan N.V. … Maher E.R. (Am. J. Hum. Genet. 2006) 3 4
  4. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. (PMID: 17182842) Setty S.R. … Marks M.S. (Mol. Biol. Cell 2007) 3 4
  5. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PMID: 19197348) Lowe J.K. … Friedman J.M. (PLoS Genet. 2009) 3 49

Products for BLOC1S3 Gene

Sources for BLOC1S3 Gene

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